Variant report

Variant	rs7314152
Chromosome Location	chr12:58017701-58017702
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr12:58017379-58017798	HL-60	blood:	n/a	n/a
2	BCL3	chr12:58017597-58019167	A549	lung:	n/a	n/a
3	PBX3	chr12:58017465-58018060	A549	lung:	n/a	n/a
4	POLR2A	chr12:58017645-58017921	A549	lung:	n/a	n/a
5	BCL3	chr12:58017060-58019246	A549	lung:	n/a	n/a
6	PBX3	chr12:58017438-58019541	A549	lung:	n/a	n/a
7	POLR2A	chr12:58017539-58017793	HepG2	liver:	n/a	n/a
8	POLR2A	chr12:58017366-58019421	A549	lung:	n/a	n/a
9	POLR2A	chr12:58017607-58017841	A549	lung:	n/a	n/a
10	CTCF	chr12:58017560-58017710	GM12864	blood:	n/a	n/a
11	POLR2A	chr12:58017386-58020181	K562	blood:	n/a	n/a
12	POLR2A	chr12:58017576-58020018	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr12:58017691-58017847	HepG2	liver:	n/a	n/a
14	POLR2A	chr12:58017188-58020079	K562	blood:	n/a	n/a
15	POLR2A	chr12:58017627-58019708	PANC-1	pancreas:	n/a	n/a
16	TCF12	chr12:58017559-58018139	A549	lung:	n/a	n/a
17	POLR2A	chr12:58017483-58018604	H1-neurons	neurons:	n/a	n/a
18	POLR2A	chr12:58017597-58017921	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:58017653-58017703	HCM	heart:	n/a
2	chr12:58017653-58017703	SK-N-SH_RA	brain:	n/a
3	chr12:58017653-58017703	HepG2	liver:	n/a
4	chr12:58017653-58017703	HIPEpiC	eye:	n/a
5	chr12:58017653-58017703	GM19239	blood:	n/a
6	chr12:58017653-58017703	T-47D	breast:	n/a
7	chr12:58017653-58017703	HL-60	blood:	n/a
8	chr12:58017653-58017703	BE2_C	brain:	n/a
9	chr12:58017653-58017703	HCT-116	colon:	n/a
10	chr12:58017653-58017703	RPTEC	kidney:	n/a
11	chr12:58017653-58017703	A549	lung:	n/a
12	chr12:58017653-58017703	K562	blood:	n/a
13	chr12:58017653-58017703	HEK293	kidney:	embryo
14	chr12:58017653-58017703	SKMC	muscle:	n/a
15	chr12:58017653-58017703	BJ	skin:	n/a
16	chr12:58017653-58017703	PANC-1	pancreas:	n/a
17	chr12:58017653-58017703	HRE	kidney:	n/a
18	chr12:58017653-58017703	HCPEpiC	choroid plexus:	n/a
19	chr12:58017653-58017703	AG04449	skin:	fetal
20	chr12:58017653-58017703	HUVEC	blood vessel:	n/a
21	chr12:58017653-58017703	Jurkat	blood:	n/a
22	chr12:58017653-58017703	AG09319	gingival:	n/a
23	chr12:58017653-58017703	ovcar-3	ovarian:	n/a
24	chr12:58017653-58017703	LNCaP	prostate:	n/a
25	chr12:58017653-58017703	ECC-1	luminal epithelium:	n/a
26	chr12:58017653-58017703	NH-A	brain:	n/a
27	chr12:58017653-58017703	Hela-S3	cervix:	n/a
28	chr12:58017653-58017703	HRCEpiC	kidney:	n/a
29	chr12:58017653-58017703	U87	brain:	n/a
30	chr12:58017653-58017703	MCF10A-Er-Src	breast:	n/a
31	chr12:58017653-58017703	AG10803	skin:	n/a
32	chr12:58017653-58017703	PrEC	prostate:	n/a
33	chr12:58017653-58017703	NT2-D1	testis:	n/a
34	chr12:58017653-58017703	AG09309	skin:	n/a
35	chr12:58017653-58017703	SK-N-MC	brain:	n/a
36	chr12:58017653-58017703	SAEC	small airway:	n/a
37	chr12:58017653-58017703	SK-N-SH	brain:	n/a
38	chr12:58017653-58017703	Caco-2	colon:	n/a
39	chr12:58017653-58017703	AG04450	lung:	fetal
40	chr12:58017653-58017703	H1-hESC	embryonic stem cell:	embryo
41	chr12:58017653-58017703	HAEpiC	amniotic membrane:	n/a
42	chr12:58017653-58017703	GM12891	blood:	n/a
43	chr12:58017653-58017703	MCF-7	breast:	n/a
44	chr12:58017653-58017703	HEEpiC	esophagus:	n/a
45	chr12:58017653-58017703	PFSK-1	brain:	n/a
46	chr12:58017653-58017703	NHDF-neo	bronchial:	n/a
47	chr12:58017653-58017703	GM06990	blood:	n/a
48	chr12:58017653-58017703	CMK	blood:	n/a
49	chr12:58017653-58017703	Hepatocyte	liver:	n/a
50	chr12:58017653-58017703	NHBE	bronchial:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58007372..58011848-chr12:58013286..58019253,6	MCF-7	breast:
2	chr12:58016846..58018792-chr12:58129433..58131831,2	K562	blood:
3	chr12:58015983..58018978-chr12:58164900..58166825,2	K562	blood:
4	chr12:58015842..58017854-chr12:58020361..58022669,3	MCF-7	breast:
5	chr12:57911911..57916321-chr12:58013702..58018076,7	K562	blood:
6	chr12:58017301..58018862-chr12:58026279..58027788,2	MCF-7	breast:
7	chr12:57912625..57916215-chr12:58016074..58021603,6	K562	blood:

No data

Variant related genes	Relation type
SLC26A10	TF binding region
ENSG00000224713	TF binding region
ENSG00000224713	CpG island
SLC26A10	CpG island
ENSG00000135439	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000123427	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000135452	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10082911	0.88[EUR][1000 genomes]
rs10083154	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10783836	0.86[EUR][1000 genomes]
rs10783842	0.83[EUR][1000 genomes]
rs10783844	0.88[EUR][1000 genomes]
rs1082502	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1082503	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10876993	0.92[CEU][hapmap]
rs10877001	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs10877006	0.88[EUR][1000 genomes]
rs10877007	0.87[EUR][1000 genomes]
rs10877008	0.89[EUR][1000 genomes]
rs1092472	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11172277	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11172306	0.88[EUR][1000 genomes]
rs12302351	0.83[EUR][1000 genomes]
rs12302451	0.85[EUR][1000 genomes]
rs12314562	0.90[EUR][1000 genomes]
rs12316021	0.83[EUR][1000 genomes]
rs12809742	0.85[EUR][1000 genomes]
rs1585781	0.90[EUR][1000 genomes]
rs1628552	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs1629032	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1678504	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs1678505	0.82[EUR][1000 genomes]
rs1678511	0.90[EUR][1000 genomes]
rs1678512	0.91[EUR][1000 genomes]
rs1678513	0.91[EUR][1000 genomes]
rs1678515	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1678516	0.96[CEU][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1678519	0.82[ASN][1000 genomes]
rs1678520	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1678522	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1678527	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1678529	0.89[EUR][1000 genomes]
rs1678530	0.90[EUR][1000 genomes]
rs1678531	0.90[EUR][1000 genomes]
rs1678532	0.90[EUR][1000 genomes]
rs1678534	0.89[EUR][1000 genomes]
rs1678539	0.90[EUR][1000 genomes]
rs1678540	0.95[CEU][hapmap]
rs1689584	0.89[EUR][1000 genomes]
rs1689585	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1689586	0.88[EUR][1000 genomes]
rs1689592	0.91[EUR][1000 genomes]
rs1689594	0.91[EUR][1000 genomes]
rs1689595	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs1689596	0.90[EUR][1000 genomes]
rs1689597	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1689600	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1689601	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1689604	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1871417	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2169987	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2277322	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2619441	0.88[EUR][1000 genomes]
rs2619466	0.90[EUR][1000 genomes]
rs2640629	0.92[CEU][hapmap]
rs2640630	0.89[EUR][1000 genomes]
rs2640631	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2928053	0.89[EUR][1000 genomes]
rs2928054	0.83[EUR][1000 genomes]
rs2928055	0.85[EUR][1000 genomes]
rs2928061	0.89[EUR][1000 genomes]
rs2928062	0.82[EUR][1000 genomes]
rs2928064	0.82[EUR][1000 genomes]
rs3825078	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs4760164	0.88[EUR][1000 genomes]
rs4760165	0.89[EUR][1000 genomes]
rs4760168	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs703832	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136269	0.90[EUR][1000 genomes]
rs774887	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs774888	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs774890	0.92[CEU][hapmap]
rs774891	0.89[EUR][1000 genomes]
rs7976852	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs7979246	0.83[CEU][hapmap];0.85[EUR][1000 genomes]
rs799575	0.90[EUR][1000 genomes]
rs810204	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7314152	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs7314152	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs7314152	SLC26A10	cis	Heart Left Ventricle	GTEx
rs7314152	DKFZP586D0919	cis	multi-tissue	Pritchard

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58011600-58018000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58011800-58018800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:58012000-58019000	Weak transcription	Aorta	Aorta
4	chr12:58015600-58021400	Weak transcription	Gastric	stomach
5	chr12:58015800-58017800	Weak transcription	Left Ventricle	heart
6	chr12:58016000-58019600	Weak transcription	A549	lung
7	chr12:58016000-58020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:58016000-58021200	Weak transcription	Pancreas	Pancrea
9	chr12:58016200-58018600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:58016200-58020000	Weak transcription	Spleen	Spleen
11	chr12:58016200-58021400	Weak transcription	Right Ventricle	heart
12	chr12:58017000-58025000	Weak transcription	K562	blood
13	chr12:58017600-58017800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr12:58017600-58017800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:58017600-58018000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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