Variant report

Variant	rs316000
Chromosome Location	chr6:160642528-160642529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr6:160642475-160642881	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr6:160642501-160642869	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr6:160642486-160642830	ECC-1	luminal epithelium:	n/a	n/a
4	SPI1	chr6:160642417-160642723	GM12878	blood:	n/a	n/a
5	CTCF	chr6:160642471-160642916	HCT-116	colon:	n/a	n/a
6	CTCF	chr6:160642526-160643006	A549	lung:	n/a	n/a
7	MAX	chr6:160642527-160642761	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr6:160642500-160642650	NHDF-neo	bronchial:	n/a	n/a
9	RAD21	chr6:160642462-160642925	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr6:160642413-160642886	HCT-116	colon:	n/a	n/a
11	STAT3	chr6:160642490-160642900	Hela-S3	cervix:	n/a	n/a
12	RAD21	chr6:160642414-160642956	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZKSCAN1	chr6:160642474-160642728	Hela-S3	cervix:	n/a	n/a
14	RAD21	chr6:160642492-160642817	HepG2	liver:	n/a	n/a
15	CEBPB	chr6:160642517-160642900	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr6:160642350-160642918	HCT-116	colon:	n/a	n/a
17	YY1	chr6:160642526-160642807	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:160642480-160642630	NHEK	skin:	n/a	n/a
19	CTCF	chr6:160642500-160642650	HMEC	breast:	n/a	n/a
20	RAD21	chr6:160642432-160642944	A549	lung:	n/a	n/a
21	STAT3	chr6:160642406-160642810	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr6:160642428-160642947	A549	lung:	n/a	n/a
23	GTF2F1	chr6:160642458-160642874	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr6:160642517-160642900	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr6:160642484-160642814	GM12878	blood:	n/a	n/a
26	RAD21	chr6:160642502-160642837	HepG2	liver:	n/a	n/a
27	CTCF	chr6:160642501-160642791	A549	lung:	n/a	n/a
28	SPI1	chr6:160642405-160642833	HL-60	blood:	n/a	n/a
29	CEBPB	chr6:160642442-160642922	A549	lung:	n/a	n/a
30	CTCF	chr6:160642510-160642813	K562	blood:	n/a	n/a
31	CTCF	chr6:160642528-160642773	HCT-116	colon:	n/a	n/a
32	SMC3	chr6:160642472-160642900	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr6:160642437-160642931	HCT-116	colon:	n/a	n/a
34	ZNF143	chr6:160642522-160642805	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:160642201..160643043-chr6:160717927..160719056,3	MCF-7	breast:

No data

Variant related genes	Relation type
SLC22A2	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10755577	0.86[CHB][hapmap]
rs2448295	0.86[CEU][hapmap];0.94[GIH][hapmap];0.82[EUR][1000 genomes]
rs2450975	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619264	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2619270	0.80[CEU][hapmap]
rs2634654	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2774218	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2928034	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928035	0.86[CHB][hapmap]
rs315979	0.82[EUR][1000 genomes]
rs315981	0.82[EUR][1000 genomes]
rs315983	0.82[EUR][1000 genomes]
rs315984	0.80[CEU][hapmap];0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs315985	0.82[EUR][1000 genomes]
rs315987	0.82[EUR][1000 genomes]
rs315988	0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs315989	0.82[EUR][1000 genomes]
rs315990	0.82[EUR][1000 genomes]
rs315993	0.81[EUR][1000 genomes]
rs315994	0.82[EUR][1000 genomes]
rs315995	0.80[CEU][hapmap];0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs315999	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316001	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs316003	0.80[CEU][hapmap];0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs316004	0.80[CEU][hapmap];0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs316005	0.80[CEU][hapmap];0.97[GIH][hapmap];0.82[EUR][1000 genomes]
rs316006	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs316012	0.86[GIH][hapmap]
rs316013	0.86[GIH][hapmap]
rs316015	0.86[GIH][hapmap]
rs316016	0.86[GIH][hapmap]
rs316018	0.86[GIH][hapmap]
rs316021	0.94[GIH][hapmap]
rs34360089	0.81[EUR][1000 genomes]
rs3798160	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs479078	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs515140	0.97[GIH][hapmap];0.81[EUR][1000 genomes]
rs543435	0.82[EUR][1000 genomes]
rs582158	0.81[EUR][1000 genomes]
rs590726	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs595374	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs610206	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs617217	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs625438	0.81[EUR][1000 genomes]
rs657051	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs9457875	0.82[EUR][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	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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 target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv35098	chr6:160422589-161070870	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv2757197	chr6:160432331-161070870	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv818463	chr6:160435569-161025547	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1030746	chr6:160592321-160867031	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv538493	chr6:160592321-160867031	Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv886808	chr6:160625978-160652929	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160637400-160642800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:160640200-160643400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:160640200-160643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:160640200-160643400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:160640200-160643400	Weak transcription	Gastric	stomach
6	chr6:160640200-160643400	Weak transcription	Pancreas	Pancrea
7	chr6:160640200-160645600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:160640400-160651200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:160640600-160642800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:160640800-160643400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:160641200-160643000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:160641800-160643600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:160641800-160643600	Enhancers	Fetal Intestine Large	intestine
14	chr6:160641800-160644000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:160642000-160643600	Enhancers	Fetal Intestine Small	intestine
16	chr6:160642200-160643600	Enhancers	Stomach Mucosa	stomach
17	chr6:160642200-160644200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:160642400-160643600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr6:160642400-160643800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr6:160642400-160644600	Enhancers	HUES64 Cell Line	embryonic stem cell

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