Variant report

Variant	rs3093021
Chromosome Location	chr6:167535914-167535915
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:167535760-167536013	GM12878	blood:	n/a	n/a
2	CUX1	chr6:167535526-167536892	GM12878	blood:	n/a	n/a
3	ZNF143	chr6:167535679-167536296	GM12878	blood:	n/a	n/a
4	EBF1	chr6:167535296-167536730	GM12878	blood:	n/a	chr6:167535493-167535504
5	MTA3	chr6:167535013-167536792	GM12878	blood:	n/a	n/a
6	BCLAF1	chr6:167535685-167536283	GM12878	blood:	n/a	n/a
7	MAZ	chr6:167535044-167536952	GM12878	blood:	n/a	n/a
8	RUNX3	chr6:167535438-167536737	GM12878	blood:	n/a	n/a
9	MXI1	chr6:167535479-167536212	GM12878	blood:	n/a	n/a
10	POLR2A	chr6:167534450-167536886	GM18951	blood:	n/a	n/a
11	POLR2A	chr6:167531624-167537352	GM12891	blood:	n/a	n/a
12	RUNX3	chr6:167535385-167536699	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:167533275-167536808	GM12892	blood:	n/a	n/a
14	POLR2A	chr6:167533605-167537411	GM19099	blood:	n/a	n/a
15	SMC3	chr6:167535531-167536543	GM12878	blood:	n/a	n/a
16	POLR2A	chr6:167534549-167536830	GM15510	blood:	n/a	n/a
17	RELA	chr6:167535678-167536758	GM10847	blood:	n/a	n/a
18	TBP	chr6:167535661-167537058	GM12878	blood:	n/a	n/a
19	WRNIP1	chr6:167535636-167536876	GM12878	blood:	n/a	n/a
20	RELA	chr6:167535231-167537024	GM19099	blood:	n/a	n/a
21	RCOR1	chr6:167535225-167536629	GM12878	blood:	n/a	n/a
22	POLR2A	chr6:167534387-167536835	GM19193	blood:	n/a	n/a
23	RELA	chr6:167534929-167536753	GM18951	blood:	n/a	n/a
24	EP300	chr6:167535556-167536897	GM12878	blood:	n/a	chr6:167535646-167535662
25	POLR2A	chr6:167534848-167536815	GM18505	blood:	n/a	n/a
26	POLR2A	chr6:167535508-167536999	GM12878	blood:	n/a	n/a
27	EP300	chr6:167535552-167536723	GM12878	blood:	n/a	chr6:167535646-167535662
28	PAX5	chr6:167535292-167535916	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:167533281-167537302	GM12878	blood:	n/a	n/a
30	MAX	chr6:167535160-167536708	GM12878	blood:	n/a	n/a
31	POLR2A	chr6:167534908-167536439	GM12878	blood:	n/a	n/a
32	CHD1	chr6:167535647-167536217	GM12878	blood:	n/a	n/a
33	BHLHE40	chr6:167535456-167536226	GM12878	blood:	n/a	n/a
34	EP300	chr6:167535590-167536066	GM12878	blood:	n/a	chr6:167535646-167535662
35	ZNF384	chr6:167535559-167536048	GM12878	blood:	n/a	n/a
36	IKZF1	chr6:167535671-167537091	GM12878	blood:	n/a	n/a
37	CHD2	chr6:167534501-167536686	GM12878	blood:	n/a	n/a
38	RELA	chr6:167534880-167536898	GM15510	blood:	n/a	n/a
39	POLR2A	chr6:167535037-167536325	GM12892	blood:	n/a	n/a
40	STAT5A	chr6:167535630-167536165	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:167535909-167535959	ECC-1	luminal epithelium:	n/a
2	chr6:167535909-167535959	GM12891	blood:	n/a
3	chr6:167535909-167535959	NHBE	bronchial:	n/a
4	chr6:167535909-167535959	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:167535909-167535959	HCF	heart:	n/a
6	chr6:167535909-167535959	RPTEC	kidney:	n/a
7	chr6:167535909-167535959	Jurkat	blood:	n/a
8	chr6:167535909-167535959	AG10803	skin:	n/a
9	chr6:167535909-167535959	Hela-S3	cervix:	n/a
10	chr6:167535909-167535959	SK-N-SH_RA	brain:	n/a
11	chr6:167535909-167535959	HepG2	liver:	n/a
12	chr6:167535909-167535959	T-47D	breast:	n/a
13	chr6:167535909-167535959	U87	brain:	n/a
14	chr6:167535909-167535959	ProgFib	skin:	n/a
15	chr6:167535909-167535959	SK-N-SH	brain:	n/a
16	chr6:167535909-167535959	HUVEC	blood vessel:	n/a
17	chr6:167535909-167535959	ovcar-3	ovarian:	n/a
18	chr6:167535909-167535959	GM19239	blood:	n/a
19	chr6:167535909-167535959	GM06990	blood:	n/a
20	chr6:167535909-167535959	PrEC	prostate:	n/a
21	chr6:167535909-167535959	NB4	blood:	n/a
22	chr6:167535909-167535959	IMR90	lung:	fetal
23	chr6:167535909-167535959	BJ	skin:	n/a
24	chr6:167535909-167535959	AoSMC	blood vessel:	n/a
25	chr6:167535909-167535959	AG04449	skin:	fetal
26	chr6:167535909-167535959	HRPEpiC	eye:	n/a
27	chr6:167535909-167535959	HCM	heart:	n/a
28	chr6:167535909-167535959	Caco-2	colon:	n/a
29	chr6:167535909-167535959	HIPEpiC	eye:	n/a
30	chr6:167535909-167535959	HCPEpiC	choroid plexus:	n/a
31	chr6:167535909-167535959	HMEC	breast:	n/a
32	chr6:167535909-167535959	MCF10A-Er-Src	breast:	n/a
33	chr6:167535909-167535959	NH-A	brain:	n/a
34	chr6:167535909-167535959	GM12892	blood:	n/a
35	chr6:167535909-167535959	H1-hESC	embryonic stem cell:	embryo
36	chr6:167535909-167535959	K562	blood:	n/a
37	chr6:167535909-167535959	SKMC	muscle:	n/a
38	chr6:167535909-167535959	GM12878	blood:	n/a
39	chr6:167535909-167535959	PANC-1	pancreas:	n/a
40	chr6:167535909-167535959	Hepatocyte	liver:	n/a
41	chr6:167535909-167535959	HCT-116	colon:	n/a
42	chr6:167535909-167535959	NHDF-neo	bronchial:	n/a
43	chr6:167535909-167535959	PFSK-1	brain:	n/a
44	chr6:167535909-167535959	A549	lung:	n/a
45	chr6:167535909-167535959	HEEpiC	esophagus:	n/a
46	chr6:167535909-167535959	LNCaP	prostate:	n/a
47	chr6:167535909-167535959	MCF-7	breast:	n/a
48	chr6:167535909-167535959	AG09309	skin:	n/a
49	chr6:167535909-167535959	CMK	blood:	n/a
50	chr6:167535909-167535959	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
CCR6	TF binding region
CCR6	CpG island

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11575077	0.96[EUR][1000 genomes]
rs17550857	0.92[ASN][1000 genomes]
rs1999459	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs3093016	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs3093020	0.98[ASN][1000 genomes]
rs3093022	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs33985243	0.98[ASN][1000 genomes]
rs34393102	0.98[ASN][1000 genomes]
rs36226075	0.98[ASN][1000 genomes]
rs36226079	0.98[ASN][1000 genomes]
rs3756845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3756847	0.98[ASN][1000 genomes]
rs41427544	0.90[ASN][1000 genomes]
rs41451345	0.98[ASN][1000 genomes]
rs41451644	0.96[EUR][1000 genomes]
rs41479146	0.90[ASN][1000 genomes]
rs41487948	0.96[EUR][1000 genomes]
rs41518347	0.98[ASN][1000 genomes]
rs4710184	0.90[ASN][1000 genomes]
rs56155472	0.93[EUR][1000 genomes]
rs57161866	0.82[ASN][1000 genomes]
rs60646330	0.98[ASN][1000 genomes]
rs61357184	0.96[ASN][1000 genomes]
rs61582484	0.87[ASN][1000 genomes]
rs6938521	0.86[CHB][hapmap]
rs976417	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
6	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	esv2752099	chr6:167448181-167579102	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1018193	chr6:167491589-167797294	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv538544	chr6:167491589-167797294	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv469673	chr6:167500376-167658532	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv482439	chr6:167500376-167658532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv2758094	chr6:167501204-167845935	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2759492	chr6:167501204-168176733	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv482873	chr6:167521620-167679133	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1024657	chr6:167526198-167555488	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167527600-167536200	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr6:167530200-167543200	Weak transcription	Spleen	Spleen
3	chr6:167530400-167538200	Weak transcription	Gastric	stomach
4	chr6:167530800-167542800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:167531400-167536400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr6:167532200-167536000	Enhancers	Primary T cells from cord blood	blood
7	chr6:167532600-167536000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr6:167532800-167536400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:167532800-167536600	Weak transcription	Colonic Mucosa	Colon
10	chr6:167533200-167536400	Enhancers	Fetal Intestine Large	intestine
11	chr6:167533200-167536400	Enhancers	Fetal Intestine Small	intestine
12	chr6:167533400-167536600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:167533800-167536000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:167533800-167536000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:167533800-167537200	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr6:167534000-167536000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:167534000-167536000	Enhancers	Duodenum Mucosa	Duodenum
18	chr6:167534000-167536200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:167534000-167537200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr6:167534000-167573400	Weak transcription	Right Atrium	heart
21	chr6:167534400-167537800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr6:167534800-167536200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr6:167534800-167538800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:167534800-167539000	Flanking Active TSS	GM12878-XiMat	blood
25	chr6:167535000-167537000	Enhancers	Fetal Thymus	thymus
26	chr6:167535200-167536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:167535200-167536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:167535200-167537600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:167535400-167537000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr6:167535600-167536000	Enhancers	HepG2	liver
31	chr6:167535600-167536200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr6:167535600-167537200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr6:167535600-167537400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr6:167535600-167554000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:167535800-167536800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr6:167535800-167537000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr6:167535800-167537000	Enhancers	Stomach Mucosa	stomach

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