Variant report

Variant	rs67844427
Chromosome Location	chr6:25931020-25931021
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	RXRA	chr6:25930817-25931211	HepG2	liver:	n/a	n/a
2	NFIC	chr6:25930598-25931333	HepG2	liver:	n/a	n/a
3	FOXA1	chr6:25930746-25931326	HepG2	liver:	n/a	n/a
4	FOXA1	chr6:25930635-25931317	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:25930695-25931342	HepG2	liver:	n/a	n/a
6	NFIC	chr6:25930576-25931257	HepG2	liver:	n/a	n/a
7	USF1	chr6:25930756-25931026	HepG2	liver:	n/a	chr6:25930888-25930899
8	ARID3A	chr6:25930894-25931730	HepG2	liver:	n/a	n/a
9	MBD4	chr6:25930641-25931338	HepG2	liver:	n/a	n/a
10	MYBL2	chr6:25930432-25931332	HepG2	liver:	n/a	n/a
11	MAX	chr6:25930259-25931362	HepG2	liver:	n/a	chr6:25930885-25930904 chr6:25930889-25930900 chr6:25930890-25930899 chr6:25930889-25930899 chr6:25930888-25930901 chr6:25930889-25930899 chr6:25930889-25930900
12	MAX	chr6:25930722-25931108	HepG2	liver:	n/a	chr6:25930885-25930904 chr6:25930889-25930900 chr6:25930890-25930899 chr6:25930889-25930899 chr6:25930888-25930901 chr6:25930889-25930899 chr6:25930889-25930900
13	EP300	chr6:25930704-25931273	HepG2	liver:	n/a	n/a
14	MYC	chr6:25930672-25931097	K562	blood:	n/a	chr6:25930885-25930904 chr6:25930889-25930900 chr6:25930890-25930899 chr6:25930889-25930899 chr6:25930888-25930901 chr6:25930889-25930899 chr6:25930889-25930900
15	MAX	chr6:25930598-25931518	HepG2	liver:	n/a	chr6:25930885-25930904 chr6:25930889-25930900 chr6:25930890-25930899 chr6:25930889-25930899 chr6:25930888-25930901 chr6:25930889-25930899 chr6:25930889-25930900
16	JUND	chr6:25930760-25931201	HepG2	liver:	n/a	n/a
17	FOXA2	chr6:25930156-25931505	HepG2	liver:	n/a	n/a
18	SP1	chr6:25930671-25931320	HepG2	liver:	n/a	n/a
19	FOXA1	chr6:25930757-25931307	HepG2	liver:	n/a	n/a
20	HEY1	chr6:25930664-25931311	HepG2	liver:	n/a	n/a
21	FOXA2	chr6:25930829-25931196	HepG2	liver:	n/a	n/a
22	MXI1	chr6:25930740-25931243	HepG2	liver:	n/a	chr6:25930889-25930898

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:25931017-25931067	SKMC	muscle:	n/a
2	chr6:25931017-25931067	PrEC	prostate:	n/a
3	chr6:25931017-25931067	HIPEpiC	eye:	n/a
4	chr6:25931017-25931067	HCF	heart:	n/a
5	chr6:25931017-25931067	HPAEpiC	pulmonary alveolar:	n/a
6	chr6:25931017-25931067	HepG2	liver:	n/a
7	chr6:25931017-25931067	ovcar-3	ovarian:	n/a
8	chr6:25931017-25931067	AG04450	lung:	fetal
9	chr6:25931017-25931067	Jurkat	blood:	n/a
10	chr6:25931017-25931067	Caco-2	colon:	n/a
11	chr6:25931017-25931067	Hela-S3	cervix:	n/a
12	chr6:25931017-25931067	AG09319	gingival:	n/a
13	chr6:25931017-25931067	HEEpiC	esophagus:	n/a
14	chr6:25931017-25931067	SK-N-SH	brain:	n/a
15	chr6:25931017-25931067	SAEC	small airway:	n/a
16	chr6:25931017-25931067	AG04449	skin:	fetal
17	chr6:25931017-25931067	GM12891	blood:	n/a
18	chr6:25931017-25931067	GM06990	blood:	n/a
19	chr6:25931017-25931067	SK-N-SH_RA	brain:	n/a
20	chr6:25931017-25931067	K562	blood:	n/a
21	chr6:25931017-25931067	NHDF-neo	bronchial:	n/a
22	chr6:25931017-25931067	Hepatocyte	liver:	n/a
23	chr6:25931017-25931067	BJ	skin:	n/a
24	chr6:25931017-25931067	NH-A	brain:	n/a
25	chr6:25931017-25931067	SK-N-MC	brain:	n/a
26	chr6:25931017-25931067	HEK293	kidney:	embryo
27	chr6:25931017-25931067	MCF10A-Er-Src	breast:	n/a
28	chr6:25931017-25931067	HRE	kidney:	n/a
29	chr6:25931017-25931067	HRCEpiC	kidney:	n/a
30	chr6:25931017-25931067	A549	lung:	n/a
31	chr6:25931017-25931067	H1-hESC	embryonic stem cell:	embryo
32	chr6:25931017-25931067	PFSK-1	brain:	n/a
33	chr6:25931017-25931067	HMEC	breast:	n/a
34	chr6:25931017-25931067	HNPCEpiC	eye:	n/a
35	chr6:25931017-25931067	AG09309	skin:	n/a
36	chr6:25931017-25931067	HAEpiC	amniotic membrane:	n/a
37	chr6:25931017-25931067	GM12892	blood:	n/a
38	chr6:25931017-25931067	AoSMC	blood vessel:	n/a
39	chr6:25931017-25931067	BE2_C	brain:	n/a
40	chr6:25931017-25931067	CMK	blood:	n/a
41	chr6:25931017-25931067	NT2-D1	testis:	n/a
42	chr6:25931017-25931067	AG10803	skin:	n/a
43	chr6:25931017-25931067	T-47D	breast:	n/a
44	chr6:25931017-25931067	PANC-1	pancreas:	n/a
45	chr6:25931017-25931067	GM12878	blood:	n/a
46	chr6:25931017-25931067	MCF-7	breast:	n/a
47	chr6:25931017-25931067	HCM	heart:	n/a
48	chr6:25931017-25931067	GM19239	blood:	n/a
49	chr6:25931017-25931067	LNCaP	prostate:	n/a
50	chr6:25931017-25931067	HL-60	blood:	n/a

Variant related genes	Relation type
SLC17A2	TF binding region
SLC17A2	CpG island

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1045537	0.81[ASN][1000 genomes]
rs10484433	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10484435	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13191776	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13192365	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13192713	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13193424	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13195279	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13195692	0.81[ASN][1000 genomes]
rs13196552	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13197334	0.81[ASN][1000 genomes]
rs13200797	0.81[ASN][1000 genomes]
rs13200888	0.81[ASN][1000 genomes]
rs13201821	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13202371	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13203673	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13206443	0.81[ASN][1000 genomes]
rs13206501	0.81[ASN][1000 genomes]
rs13207673	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13210399	0.81[ASN][1000 genomes]
rs13214169	0.87[EUR][1000 genomes]
rs13214280	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13216785	0.81[ASN][1000 genomes]
rs13220395	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13220488	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16891235	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16891261	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16891264	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16891315	0.81[ASN][1000 genomes]
rs16891334	0.81[ASN][1000 genomes]
rs17526722	0.82[EUR][1000 genomes]
rs17586553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17586784	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17587226	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17587597	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2051539	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28360595	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34027471	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34116162	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34233736	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34525648	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34791189	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34804024	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35069699	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35116528	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35169013	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35249036	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35335639	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35378061	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35402046	0.81[ASN][1000 genomes]
rs35484309	0.81[ASN][1000 genomes]
rs35528636	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35778245	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35825164	0.81[ASN][1000 genomes]
rs36012762	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36014129	0.80[EUR][1000 genomes]
rs3734523	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734528	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3752417	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3884025	0.82[EUR][1000 genomes]
rs56195001	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56294283	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60512607	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs66790453	0.81[ASN][1000 genomes]
rs67296946	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs67491322	0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs67554133	0.80[EUR][1000 genomes]
rs68149500	0.81[ASN][1000 genomes]
rs68194335	0.84[EUR][1000 genomes]
rs6903228	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6931120	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940007	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557316	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72832596	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72834617	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72834623	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7748167	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7749414	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7750960	0.87[EUR][1000 genomes]
rs7766531	0.87[EUR][1000 genomes]
rs9295675	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9461222	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9461223	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9467632	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9467635	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv5229	chr6:25912151-25956558	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2755446	chr6:25924513-25981648	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25928400-25934400	Weak transcription	Small Intestine	intestine
2	chr6:25929000-25931600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:25929800-25934400	Weak transcription	Fetal Intestine Large	intestine
4	chr6:25930800-25933800	Enhancers	HepG2	liver
5	chr6:25931000-25931400	Flanking Active TSS	Liver	Liver
6	chr6:25931000-25931600	Enhancers	Fetal Intestine Small	intestine

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