Variant report

Variant	rs1481167
Chromosome Location	chr4:1110735-1110736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr4:1110519-1111071	HCT-116	colon:	n/a	n/a
2	RAD21	chr4:1110655-1110905	H1-hESC	embryonic stem cell:	n/a	n/a
3	ESR1	chr4:1110562-1110864	ECC-1	luminal epithelium:	n/a	n/a
4	CTCF	chr4:1110700-1110850	AG09319	gingival:	n/a	n/a
5	CTCF	chr4:1110720-1110870	RPTEC	kidney:	n/a	n/a
6	CTCF	chr4:1110660-1110810	NHLF	lung:	n/a	n/a
7	CTCF	chr4:1110700-1110850	AG10803	skin:	n/a	n/a
8	CTCF	chr4:1110660-1110810	NHEK	skin:	n/a	n/a
9	CTCF	chr4:1110680-1110830	HPAF	blood vessel:	n/a	n/a
10	CTCF	chr4:1110700-1110850	A549	lung:	n/a	n/a
11	CTCF	chr4:1110533-1110958	HCT-116	colon:	n/a	n/a
12	CTCF	chr4:1110680-1110830	HBMEC	blood vessel:	n/a	n/a
13	CTCF	chr4:1110700-1110850	HPAF	blood vessel:	n/a	n/a
14	CTCF	chr4:1110718-1110871	K562	blood:	n/a	n/a
15	NFIC	chr4:1110505-1111061	ECC-1	luminal epithelium:	n/a	n/a
16	CTCF	chr4:1110700-1110850	AG04450	lung:	n/a	n/a
17	RAD21	chr4:1110703-1110924	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr4:1110700-1110850	AoAF	blood vessel:	n/a	n/a
19	CTCF	chr4:1110700-1110850	AG04449	skin:	n/a	n/a
20	CTCF	chr4:1110680-1110830	RPTEC	kidney:	n/a	n/a
21	CTCF	chr4:1110700-1110850	WERI-Rb-1	eye:	n/a	n/a
22	CTCF	chr4:1110720-1110870	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr4:1110660-1110810	HRE	kidney:	n/a	n/a
24	CTCF	chr4:1110710-1110853	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr4:1110680-1110830	HCM	heart:	n/a	n/a
26	CTCF	chr4:1110700-1110850	K562	blood:	n/a	n/a
27	RAD21	chr4:1110650-1110933	MCF-7	breast:	n/a	n/a
28	CTCF	chr4:1110720-1110870	HAc	cerebellar:	n/a	n/a
29	CTCF	chr4:1110720-1110870	NB4	blood:	n/a	n/a
30	CTCF	chr4:1110680-1110830	HMEC	breast:	n/a	n/a
31	CTCF	chr4:1110636-1110919	K562	blood:	n/a	n/a
32	CTCF	chr4:1110700-1110850	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr4:1110640-1110790	HCT-116	colon:	n/a	n/a
34	CTCF	chr4:1110660-1110810	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr4:1110600-1110750	NHDF-neo	bronchial:	n/a	n/a
36	CTCF	chr4:1110579-1110986	MCF-7	breast:	n/a	n/a
37	CTCF	chr4:1110720-1110870	AG09319	gingival:	n/a	n/a
38	CTCF	chr4:1110720-1110870	HVMF	connective:	n/a	n/a
39	CTCF	chr4:1110640-1110790	HA-sp	spinal cord:	n/a	n/a
40	CTCF	chr4:1110680-1110830	BJ	skin:	n/a	n/a
41	RAD21	chr4:1110644-1110930	HepG2	liver:	n/a	n/a
42	RAD21	chr4:1110604-1110893	HCT-116	colon:	n/a	n/a
43	CTCF	chr4:1110700-1110850	HCM	heart:	n/a	n/a
44	STAT3	chr4:1110480-1110760	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr4:1110620-1111008	ECC-1	luminal epithelium:	n/a	n/a
46	RAD21	chr4:1110725-1110847	K562	blood:	n/a	n/a
47	RAD21	chr4:1110686-1110921	HepG2	liver:	n/a	n/a
48	CTCF	chr4:1110719-1110904	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:1066387..1067317-chr4:1110360..1111212,5	MCF-7	breast:
2	chr4:1108188..1111933-chr4:1241185..1244027,3	MCF-7	breast:
3	chr4:1052019..1052816-chr4:1110312..1111250,2	MCF-7	breast:
4	chr4:1065925..1067549-chr4:1109315..1111845,2	MCF-7	breast:
5	chr4:1109287..1111564-chr4:1115263..1117535,2	K562	blood:
6	chr4:1109287..1111934-chr4:1115263..1117139,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212458	TF binding region
RNF212	TF binding region
ENSG00000159692	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000178222	Chromatin interaction
ENSG00000215367	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10002248	1.00[CEU][hapmap]
rs10002437	1.00[CEU][hapmap]
rs10003030	0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs10014245	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs10015944	0.97[AFR][1000 genomes]
rs10016588	0.90[YRI][hapmap];0.91[AFR][1000 genomes]
rs10032349	0.83[EUR][1000 genomes]
rs10032470	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs10033163	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11724989	0.88[CEU][hapmap]
rs11726554	0.94[AFR][1000 genomes]
rs11728360	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11731643	0.85[AFR][1000 genomes]
rs11731685	0.95[AFR][1000 genomes]
rs11736950	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13119696	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1383660	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs17164384	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs28540372	0.81[AFR][1000 genomes]
rs28621675	0.98[AFR][1000 genomes]
rs28785628	0.98[AFR][1000 genomes]
rs28856334	0.88[AFR][1000 genomes]
rs2924495	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs3775111	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs4246683	0.85[EUR][1000 genomes]
rs4246684	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4974561	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4974569	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4974571	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4974573	0.88[CEU][hapmap]
rs4974628	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4974637	0.83[EUR][1000 genomes]
rs4974639	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4974642	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4974643	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4974644	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs588824	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs589660	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs59465697	0.95[AFR][1000 genomes]
rs604526	0.85[CEU][hapmap]
rs606327	0.88[CEU][hapmap]
rs608066	0.87[CEU][hapmap]
rs614945	0.88[CEU][hapmap]
rs615381	0.88[CEU][hapmap]
rs616569	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs619407	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs620398	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs629638	0.88[CEU][hapmap]
rs632319	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs633087	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs633141	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs633599	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs633954	0.88[CEU][hapmap]
rs643043	1.00[CEU][hapmap]
rs646117	0.83[EUR][1000 genomes]
rs647828	0.83[EUR][1000 genomes]
rs648640	0.83[EUR][1000 genomes]
rs649243	0.88[CEU][hapmap]
rs649258	0.83[EUR][1000 genomes]
rs649616	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs6599282	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6599283	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6599284	1.00[CEU][hapmap]
rs6599285	0.88[CEU][hapmap]
rs661364	0.83[EUR][1000 genomes]
rs671790	0.88[CEU][hapmap]
rs6812059	0.82[AFR][1000 genomes]
rs6814094	0.83[EUR][1000 genomes]
rs6817989	0.88[CEU][hapmap]
rs681857	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs682243	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs682787	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs6831018	0.90[AFR][1000 genomes]
rs6836158	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6836335	0.88[CEU][hapmap]
rs6839768	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs6840162	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs73067706	0.86[AFR][1000 genomes]
rs73067775	0.94[AFR][1000 genomes]
rs73067776	0.94[AFR][1000 genomes]
rs7661069	0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs7669287	0.89[YRI][hapmap];0.82[AFR][1000 genomes]
rs7676956	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7679718	1.00[CEU][hapmap]
rs7684536	0.85[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7685051	0.98[AFR][1000 genomes]
rs7690300	0.88[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7690832	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs878324	0.85[AFR][1000 genomes]
rs9992322	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv536980	chr4:827866-1167377	Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv1009619	chr4:901897-1215657	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1003876	chr4:927509-1191316	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1000381	chr4:927509-1198766	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv1004727	chr4:1015652-1158207	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv536984	chr4:1015652-1158207	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv1005990	chr4:1015652-1167619	Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv1000594	chr4:1045099-1129975	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1001165	chr4:1051512-1129975	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv1012892	chr4:1086871-1176630	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 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	chr4:1108800-1115800	Weak transcription	Pancreas	Pancrea
2	chr4:1109600-1110800	Enhancers	Fetal Kidney	kidney
3	chr4:1109600-1110800	Enhancers	HepG2	liver
4	chr4:1109800-1110800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr4:1110200-1110800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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