Variant report

Variant	rs510714
Chromosome Location	chr12:298500-298501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:298153-298548	MCF-7	breast:	n/a	n/a
2	CTCF	chr12:298360-298510	HRPEpiC	eye:	n/a	chr12:298430-298443 chr12:298428-298446
3	USF2	chr12:298317-298507	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr12:298108-298882	SK-N-SH	brain:	n/a	chr12:298428-298440 chr12:298706-298720
5	CTCF	chr12:298400-298550	GM12868	blood:	n/a	chr12:298430-298443 chr12:298428-298446
6	MAX	chr12:298260-298543	K562	blood:	n/a	n/a
7	CTCF	chr12:298292-298579	GM12878	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
8	RAD21	chr12:298100-298611	H1-hESC	embryonic stem cell:	n/a	chr12:298428-298440
9	CTCF	chr12:298360-298510	HEEpiC	esophagus:	n/a	chr12:298430-298443 chr12:298428-298446
10	CTCF	chr12:298380-298530	HUVEC	blood vessel:	n/a	chr12:298430-298443 chr12:298428-298446
11	MAX	chr12:297680-298674	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr12:298380-298530	HL-60	blood:	n/a	chr12:298430-298443 chr12:298428-298446
13	CTCF	chr12:298280-298583	MCF-7	breast:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
14	JUN	chr12:298383-298524	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr12:298360-298510	GM12872	blood:	n/a	chr12:298430-298443 chr12:298428-298446
16	CTCF	chr12:298440-298590	GM06990	blood:	n/a	n/a
17	CTCF	chr12:298360-298510	HAc	cerebellar:	n/a	chr12:298430-298443 chr12:298428-298446
18	CTCF	chr12:298400-298550	AG10803	skin:	n/a	chr12:298430-298443 chr12:298428-298446
19	E2F6	chr12:298004-298681	H1-hESC	embryonic stem cell:	n/a	chr12:298012-298019 chr12:298012-298019 chr12:298402-298411 chr12:298324-298336 chr12:298012-298019
20	CTCF	chr12:298360-298510	GM12874	blood:	n/a	chr12:298430-298443 chr12:298428-298446
21	CTCF	chr12:298420-298570	GM12872	blood:	n/a	chr12:298430-298443 chr12:298428-298446
22	CTCF	chr12:298400-298550	NHLF	lung:	n/a	chr12:298430-298443 chr12:298428-298446
23	CTCF	chr12:298193-298744	K562	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
24	CTCF	chr12:298360-298510	HFF-Myc	foreskin:	n/a	chr12:298430-298443 chr12:298428-298446
25	CTCF	chr12:298380-298530	GM12873	blood:	n/a	chr12:298430-298443 chr12:298428-298446
26	CTCF	chr12:298369-298514	Hela-S3	cervix:	n/a	chr12:298430-298443 chr12:298428-298446
27	RAD21	chr12:298212-298632	SK-N-SH_RA	brain:	n/a	chr12:298428-298440
28	MAZ	chr12:298220-298597	K562	blood:	n/a	n/a
29	MAX	chr12:298035-298687	H1-hESC	embryonic stem cell:	n/a	n/a
30	TCF12	chr12:298154-298791	ECC-1	luminal epithelium:	n/a	chr12:298706-298716
31	RAD21	chr12:298134-298734	ECC-1	luminal epithelium:	n/a	chr12:298428-298440 chr12:298706-298720
32	CTCF	chr12:298236-298587	T-47D	breast:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
33	EBF1	chr12:298230-298560	GM12878	blood:	n/a	n/a
34	SMC3	chr12:297963-298793	SK-N-SH	brain:	n/a	chr12:298353-298363 chr12:298430-298444
35	HDAC2	chr12:298207-298560	HepG2	liver:	n/a	chr12:298528-298542
36	CTCF	chr12:298400-298550	GM12864	blood:	n/a	chr12:298430-298443 chr12:298428-298446
37	EP300	chr12:298343-298534	HepG2	liver:	n/a	chr12:298390-298406 chr12:298347-298363 chr12:298438-298447
38	RAD21	chr12:298335-298531	GM12878	blood:	n/a	chr12:298428-298440
39	RAD21	chr12:298214-298658	HepG2	liver:	n/a	chr12:298428-298440
40	CTCF	chr12:298420-298570	HPF	lung:	n/a	chr12:298430-298443 chr12:298428-298446
41	CTCF	chr12:298301-298568	GM12892	blood:	n/a	chr12:298430-298443 chr12:298428-298446 chr12:298350-298363
42	CTCF	chr12:298360-298510	GM12873	blood:	n/a	chr12:298430-298443 chr12:298428-298446
43	CTCF	chr12:298380-298530	GM12875	blood:	n/a	chr12:298430-298443 chr12:298428-298446
44	MYC	chr12:298355-298542	K562	blood:	n/a	n/a
45	MAX	chr12:298087-298546	A549	lung:	n/a	n/a
46	CTCF	chr12:298400-298550	HPAF	blood vessel:	n/a	chr12:298430-298443 chr12:298428-298446
47	CTCF	chr12:298400-298550	AoAF	blood vessel:	n/a	chr12:298430-298443 chr12:298428-298446
48	CTCF	chr12:298380-298530	BE2_C	brain:	n/a	chr12:298430-298443 chr12:298428-298446
49	MAZ	chr12:297905-298760	IMR90	lung:	n/a	chr12:298716-298726
50	CTCF	chr12:298400-298550	K562	blood:	n/a	chr12:298430-298443 chr12:298428-298446

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:298484-298534	ProgFib	skin:	n/a
2	chr12:298484-298534	SKMC	muscle:	n/a
3	chr12:298484-298534	NT2-D1	testis:	n/a
4	chr12:298484-298534	HMEC	breast:	n/a
5	chr12:298484-298534	A549	lung:	n/a
6	chr12:298484-298534	AG09319	gingival:	n/a
7	chr12:298484-298534	HRPEpiC	eye:	n/a
8	chr12:298484-298534	MCF10A-Er-Src	breast:	n/a
9	chr12:298484-298534	HAEpiC	amniotic membrane:	n/a
10	chr12:298484-298534	ECC-1	luminal epithelium:	n/a
11	chr12:298484-298534	SK-N-SH_RA	brain:	n/a
12	chr12:298484-298534	U87	brain:	n/a
13	chr12:298484-298534	LNCaP	prostate:	n/a
14	chr12:298484-298534	RPTEC	kidney:	n/a
15	chr12:298484-298534	T-47D	breast:	n/a
16	chr12:298484-298534	HCF	heart:	n/a
17	chr12:298484-298534	HIPEpiC	eye:	n/a
18	chr12:298484-298534	BE2_C	brain:	n/a
19	chr12:298484-298534	MCF-7	breast:	n/a
20	chr12:298484-298534	Caco-2	colon:	n/a
21	chr12:298484-298534	HCPEpiC	choroid plexus:	n/a
22	chr12:298484-298534	AG04450	lung:	fetal
23	chr12:298484-298534	HEEpiC	esophagus:	n/a
24	chr12:298484-298534	NHDF-neo	bronchial:	n/a
25	chr12:298484-298534	K562	blood:	n/a
26	chr12:298484-298534	NB4	blood:	n/a
27	chr12:298484-298534	GM12891	blood:	n/a
28	chr12:298484-298534	HRCEpiC	kidney:	n/a
29	chr12:298484-298534	NH-A	brain:	n/a
30	chr12:298484-298534	Hepatocyte	liver:	n/a
31	chr12:298484-298534	SAEC	small airway:	n/a
32	chr12:298484-298534	AG04449	skin:	fetal
33	chr12:298484-298534	AG10803	skin:	n/a
34	chr12:298484-298534	HepG2	liver:	n/a
35	chr12:298484-298534	HL-60	blood:	n/a
36	chr12:298484-298534	GM12878	blood:	n/a
37	chr12:298484-298534	HCT-116	colon:	n/a
38	chr12:298484-298534	PFSK-1	brain:	n/a
39	chr12:298484-298534	HNPCEpiC	eye:	n/a
40	chr12:298484-298534	CMK	blood:	n/a
41	chr12:298484-298534	HRE	kidney:	n/a
42	chr12:298484-298534	SK-N-MC	brain:	n/a
43	chr12:298484-298534	AoSMC	blood vessel:	n/a
44	chr12:298484-298534	H1-hESC	embryonic stem cell:	embryo
45	chr12:298484-298534	PANC-1	pancreas:	n/a
46	chr12:298484-298534	SK-N-SH	brain:	n/a
47	chr12:298484-298534	Hela-S3	cervix:	n/a
48	chr12:298484-298534	Jurkat	blood:	n/a
49	chr12:298484-298534	BJ	skin:	n/a
50	chr12:298484-298534	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:298095..299012-chr12:328485..329986,6	MCF-7	breast:
2	chr12:297600..300406-chr12:301639..304265,3	K562	blood:
3	chr12:296668..298848-chr12:310032..311975,2	K562	blood:
4	chr12:297600..300406-chr12:301338..304265,4	K562	blood:
5	chr12:297943..299013-chr12:328724..329295,3	K562	blood:
6	chr12:297965..298734-chr12:308100..308686,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255671	TF binding region
ENSG00000255671	CpG island
ENSG00000255671	Chromatin interaction
ENSG00000111181	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1051104	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10848520	0.85[EUR][1000 genomes]
rs12422447	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs183355	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2075228	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs216227	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs502783	0.84[CEU][hapmap];0.85[CHD][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs515932	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs542736	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs559759	0.85[CEU][hapmap]
rs57052808	0.83[EUR][1000 genomes]
rs61907087	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61907088	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs633159	0.85[CHD][hapmap]
rs7959974	1.00[CEU][hapmap];0.87[CHD][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7960096	0.92[CEU][hapmap];0.87[CHD][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs797736	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1041243	chr12:150430-310571	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv898552	chr12:154752-303320	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv515938	chr12:282465-303320	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv468945	chr12:282465-310334	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv556854	chr12:282465-310334	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898559	chr12:282465-310334	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv1036669	chr12:282465-310571	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv1044922	chr12:282465-310571	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1047614	chr12:282465-316360	Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv556856	chr12:282465-327421	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv468946	chr12:282465-335922	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv556855	chr12:282465-335922	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv898561	chr12:282465-335922	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1051166	chr12:282465-341144	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv898560	chr12:282465-349298	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
20	nsv898557	chr12:282465-367902	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv491944	chr12:282465-369192	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv468947	chr12:282465-377904	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv556857	chr12:282465-377904	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1037090	chr12:282465-387718	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1042229	chr12:282465-387718	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv541303	chr12:282465-387718	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv1046121	chr12:282465-416134	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv531957	chr12:282465-465789	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv1049579	chr12:282465-471163	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv949498	chr12:282465-493900	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	nsv1051726	chr12:282465-511843	Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
32	nsv541304	chr12:282465-635505	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
33	nsv1042991	chr12:282465-666255	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
34	nsv1041574	chr12:282465-812000	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
35	nsv541305	chr12:282465-1016828	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
36	nsv869390	chr12:282465-1045994	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
37	nsv1049944	chr12:282465-1232077	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
38	nsv541306	chr12:282465-1232077	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
39	nsv898562	chr12:285110-318366	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
40	nsv569	chr12:288974-305724	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
41	esv3502258	chr12:291441-298695	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
42	esv3517243	chr12:291491-298695	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
43	esv3517242	chr12:291491-300289	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
44	nsv556860	chr12:293513-298500	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
45	nsv556861	chr12:293513-360614	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
46	nsv556865	chr12:295367-298500	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
47	nsv1036580	chr12:295971-365820	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
48	nsv1054973	chr12:296179-464439	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
49	nsv541321	chr12:296179-464439	Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs510714	HM13	trans	parietal	SCAN
rs510714	PARP11	cis	cerebellum	SCAN
rs510714	ITFG2	cis	parietal	SCAN
rs510714	ZSCAN18	trans	parietal	SCAN
rs510714	IQSEC3	cis	parietal	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:297200-298600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr12:297600-298600	Active TSS	Ovary	ovary
3	chr12:297600-298800	Enhancers	Spleen	Spleen
4	chr12:297800-298600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:297800-298600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:297800-298600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:297800-298600	Flanking Active TSS	Right Ventricle	heart
8	chr12:297800-298600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr12:297800-298800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:297800-298800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
11	chr12:297800-298800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:297800-298800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr12:297800-298800	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr12:297800-298800	Active TSS	Osteobl	bone
15	chr12:297800-299000	Enhancers	Fetal Heart	heart
16	chr12:297800-299200	Enhancers	Fetal Brain Male	brain
17	chr12:298000-298600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:298000-298600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:298000-298600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:298000-298600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:298000-298600	Active TSS	Primary hematopoietic stem cells	blood
22	chr12:298000-298600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:298000-298600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:298000-298600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:298000-298600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr12:298000-298600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr12:298000-298600	Bivalent/Poised TSS	Thymus	Thymus
28	chr12:298000-298800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:298000-298800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr12:298000-298800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:298000-298800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:298000-298800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:298000-298800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:298000-298800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr12:298000-298800	Active TSS	HSMM	muscle
36	chr12:298000-299000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr12:298200-298600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr12:298200-298600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr12:298200-298600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr12:298200-298600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:298200-298600	Active TSS	Colon Smooth Muscle	Colon
42	chr12:298200-298600	Active TSS	Duodenum Mucosa	Duodenum
43	chr12:298200-298600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr12:298200-298800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
45	chr12:298200-298800	Enhancers	GM12878-XiMat	blood
46	chr12:298200-298800	Active TSS	HSMMtube	muscle
47	chr12:298200-299000	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:298400-298600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
49	chr12:298400-298600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr12:298400-298600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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