Variant report

Variant	rs1514362
Chromosome Location	chr6:68599400-68599401
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:68590134-68600167	K562	blood:	n/a	n/a
2	STAT2	chr6:68598493-68599444	K562	blood:	n/a	n/a
3	MYC	chr6:68596865-68599806	K562	blood:	n/a	n/a
4	MYC	chr6:68597308-68599508	K562	blood:	n/a	n/a
5	PML	chr6:68590743-68599789	K562	blood:	n/a	n/a
6	MAX	chr6:68598369-68599464	K562	blood:	n/a	n/a
7	POLR2A	chr6:68598863-68599446	HL-60	blood:	n/a	n/a
8	POLR2A	chr6:68590570-68599492	K562	blood:	n/a	n/a
9	GATA2	chr6:68598822-68599509	K562	blood:	n/a	n/a
10	STAT5A	chr6:68598865-68599457	K562	blood:	n/a	n/a
11	RCOR1	chr6:68597839-68599436	K562	blood:	n/a	n/a
12	BCL3	chr6:68598839-68599484	K562	blood:	n/a	n/a
13	JUND	chr6:68595055-68599580	K562	blood:	n/a	chr6:68599546-68599555
14	PML	chr6:68590653-68599548	K562	blood:	n/a	n/a
15	BHLHE40	chr6:68597358-68599424	K562	blood:	n/a	n/a
16	TBL1XR1	chr6:68597534-68599405	K562	blood:	n/a	n/a
17	REST	chr6:68598352-68599414	K562	blood:	n/a	chr6:68598841-68598855
18	CEBPD	chr6:68598363-68599520	K562	blood:	n/a	n/a
19	TAL1	chr6:68597319-68599730	K562	blood:	n/a	n/a
20	MAZ	chr6:68596053-68599745	K562	blood:	n/a	n/a
21	ETS1	chr6:68598612-68599454	K562	blood:	n/a	n/a
22	CBX3	chr6:68598810-68599526	K562	blood:	n/a	n/a
23	HEY1	chr6:68590821-68599514	K562	blood:	n/a	n/a
24	CTCF	chr6:68598223-68599570	K562	blood:	n/a	n/a
25	MAFF	chr6:68598673-68599597	K562	blood:	n/a	n/a
26	POLR2A	chr6:68590125-68599480	K562	blood:	n/a	n/a
27	GATA2	chr6:68598916-68599438	K562	blood:	n/a	n/a
28	IRF1	chr6:68596980-68600987	K562	blood:	n/a	chr6:68600609-68600623 chr6:68600490-68600502 chr6:68600491-68600501 chr6:68600613-68600627 chr6:68600611-68600621 chr6:68600607-68600621 chr6:68600611-68600625 chr6:68600612-68600623 chr6:68600611-68600622 chr6:68600609-68600629 chr6:68600489-68600502
29	JUN	chr6:68596951-68599861	K562	blood:	n/a	chr6:68599546-68599555
30	RUNX3	chr6:68598968-68599418	GM12878	blood:	n/a	n/a
31	BCLAF1	chr6:68597199-68599447	K562	blood:	n/a	n/a
32	POLR2A	chr6:68590133-68599717	K562	blood:	n/a	n/a
33	CEBPD	chr6:68597793-68599579	K562	blood:	n/a	n/a
34	JUN	chr6:68597810-68599441	K562	blood:	n/a	n/a
35	CBX3	chr6:68598539-68599422	K562	blood:	n/a	n/a
36	TRIM28	chr6:68598873-68599469	K562	blood:	n/a	n/a
37	NR2F2	chr6:68598545-68599858	K562	blood:	n/a	n/a
38	SP1	chr6:68598793-68599588	K562	blood:	n/a	n/a
39	ZNF143	chr6:68597845-68599430	K562	blood:	n/a	n/a
40	ATF3	chr6:68598808-68599434	K562	blood:	n/a	n/a
41	FOXP2	chr6:68599139-68599439	PFSK-1	brain:	n/a	n/a
42	CCNT2	chr6:68597646-68599928	K562	blood:	n/a	n/a
43	EP300	chr6:68598519-68599658	K562	blood:	n/a	n/a
44	TEAD4	chr6:68596734-68599639	K562	blood:	n/a	n/a
45	MAX	chr6:68598819-68599473	K562	blood:	n/a	n/a
46	IRF1	chr6:68597862-68599422	K562	blood:	n/a	n/a
47	ZBTB7A	chr6:68599275-68599438	K562	blood:	n/a	n/a
48	TEAD4	chr6:68590763-68599915	K562	blood:	n/a	n/a
49	MAFK	chr6:68597382-68599413	K562	blood:	n/a	n/a
50	CEBPB	chr6:68598861-68599502	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:68599358-68599408	NHBE	bronchial:	n/a
2	chr6:68599358-68599408	AG10803	skin:	n/a
3	chr6:68599358-68599408	HEK293	kidney:	embryo
4	chr6:68599358-68599408	NH-A	brain:	n/a
5	chr6:68599358-68599408	GM12878	blood:	n/a
6	chr6:68599358-68599408	T-47D	breast:	n/a
7	chr6:68599358-68599408	AG04450	lung:	fetal
8	chr6:68599358-68599408	GM06990	blood:	n/a
9	chr6:68599358-68599408	HL-60	blood:	n/a
10	chr6:68599358-68599408	ECC-1	luminal epithelium:	n/a
11	chr6:68599358-68599408	GM12891	blood:	n/a
12	chr6:68599358-68599408	ProgFib	skin:	n/a
13	chr6:68599358-68599408	K562	blood:	n/a
14	chr6:68599358-68599408	HCT-116	colon:	n/a
15	chr6:68599358-68599408	SK-N-MC	brain:	n/a
16	chr6:68599358-68599408	HPAEpiC	pulmonary alveolar:	n/a
17	chr6:68599358-68599408	HCM	heart:	n/a
18	chr6:68599358-68599408	SK-N-SH_RA	brain:	n/a
19	chr6:68599358-68599408	HRPEpiC	eye:	n/a
20	chr6:68599358-68599408	PANC-1	pancreas:	n/a
21	chr6:68599358-68599408	RPTEC	kidney:	n/a
22	chr6:68599358-68599408	GM19239	blood:	n/a
23	chr6:68599358-68599408	PrEC	prostate:	n/a
24	chr6:68599358-68599408	A549	lung:	n/a
25	chr6:68599358-68599408	H1-hESC	embryonic stem cell:	embryo
26	chr6:68599358-68599408	AG09309	skin:	n/a
27	chr6:68599358-68599408	IMR90	lung:	fetal
28	chr6:68599358-68599408	Caco-2	colon:	n/a
29	chr6:68599358-68599408	SKMC	muscle:	n/a
30	chr6:68599358-68599408	BJ	skin:	n/a
31	chr6:68599358-68599408	U87	brain:	n/a
32	chr6:68599358-68599408	PFSK-1	brain:	n/a
33	chr6:68599358-68599408	HUVEC	blood vessel:	n/a
34	chr6:68599358-68599408	HCF	heart:	n/a
35	chr6:68599358-68599408	ovcar-3	ovarian:	n/a
36	chr6:68599358-68599408	AoSMC	blood vessel:	n/a
37	chr6:68599358-68599408	Jurkat	blood:	n/a
38	chr6:68599358-68599408	BE2_C	brain:	n/a
39	chr6:68599358-68599408	AG09319	gingival:	n/a
40	chr6:68599358-68599408	SAEC	small airway:	n/a
41	chr6:68599358-68599408	GM12892	blood:	n/a
42	chr6:68599358-68599408	HEEpiC	esophagus:	n/a
43	chr6:68599358-68599408	Hepatocyte	liver:	n/a
44	chr6:68599358-68599408	AG04449	skin:	fetal
45	chr6:68599358-68599408	LNCaP	prostate:	n/a
46	chr6:68599358-68599408	SK-N-SH	brain:	n/a
47	chr6:68599358-68599408	MCF-7	breast:	n/a
48	chr6:68599358-68599408	Hela-S3	cervix:	n/a
49	chr6:68599358-68599408	HRE	kidney:	n/a
50	chr6:68599358-68599408	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:68597581..68600256-chr6:68643014..68644581,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000227706	TF binding region
ENSG00000227706	CpG island
ENSG00000270509	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10214556	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1079471	0.93[CHB][hapmap]
rs10945033	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.82[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12178826	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1514350	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1547547	1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2048704	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2090115	0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2102680	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2137885	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6912774	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6913938	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6915750	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6918745	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6919995	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6940958	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7755930	0.93[CHB][hapmap]
rs7771084	0.93[CHB][hapmap]
rs9294781	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9294782	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9342670	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9342677	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9346088	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9346098	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9346101	0.93[CHB][hapmap];0.81[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9346108	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9351686	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9363824	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9363827	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9363833	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9363839	0.91[CEU][hapmap];0.93[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9445935	0.90[AFR][1000 genomes]
rs9445939	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027923	chr6:67830533-68828337	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1016471	chr6:67854363-68708368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv538292	chr6:67854363-68708368	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv603589	chr6:67975166-68865718	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv886115	chr6:68341629-68644319	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv886116	chr6:68356291-68607744	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv603599	chr6:68518857-68609707	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv603600	chr6:68526511-68601405	Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv603601	chr6:68530199-68609591	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv463146	chr6:68532965-68601405	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv603602	chr6:68532965-68601405	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3415097	chr6:68536406-69244164	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv3368842	chr6:68544280-68616669	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1030673	chr6:68545302-68642745	ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv603603	chr6:68549996-68648868	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv886127	chr6:68549996-68658266	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1027600	chr6:68561483-68642745	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	esv3382545	chr6:68562280-68605871	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv520584	chr6:68563328-68644319	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv603604	chr6:68563328-68644319	Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68598400-68601400	Active TSS	K562	blood
2	chr6:68598800-68599600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr6:68598800-68599800	Enhancers	Hela-S3	cervix
4	chr6:68598800-68600200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr6:68599200-68599800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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