Variant report

Variant	rs3757648
Chromosome Location	chr7:111382324-111382325
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	FOXM1	chr7:111381717-111382327	GM12878	blood:	n/a	n/a
2	CTCF	chr7:111382180-111382330	GM06990	blood:	n/a	n/a
3	CTCF	chr7:111381332-111382539	A549	lung:	n/a	chr7:111381974-111381995 chr7:111381972-111381990 chr7:111381973-111381989
4	RAD21	chr7:111381251-111382756	SK-N-SH	brain:	n/a	chr7:111381973-111381992
5	CTCF	chr7:111381666-111382370	MCF-7	breast:	n/a	chr7:111381974-111381995 chr7:111381972-111381990 chr7:111381973-111381989
6	CTCF	chr7:111381645-111382379	K562	blood:	n/a	chr7:111381974-111381995 chr7:111381972-111381990 chr7:111381973-111381989
7	RAD21	chr7:111381714-111382384	MCF-7	breast:	n/a	chr7:111381973-111381992
8	CTCF	chr7:111381419-111382553	SK-N-SH	brain:	n/a	chr7:111381974-111381995 chr7:111381972-111381990 chr7:111381973-111381989
9	RAD21	chr7:111381748-111382345	HCT-116	colon:	n/a	chr7:111381973-111381992
10	CTCF	chr7:111381730-111382347	K562	blood:	n/a	chr7:111381974-111381995 chr7:111381972-111381990 chr7:111381973-111381989
11	SMC3	chr7:111381383-111382946	SK-N-SH	brain:	n/a	chr7:111381445-111381452 chr7:111381974-111381988

No.	Distal block	Cell Line	Cell type
1	chr7:111381604..111382495-chr7:111494972..111496598,8	MCF-7	breast:
2	chr7:111374582..111377494-chr7:111380762..111382882,2	K562	blood:
3	chr7:111381523..111382478-chr7:112135251..112136853,11	K562	blood:
4	chr7:111381965..111384735-chr7:111387573..111389766,2	K562	blood:
5	chr7:111381701..111382455-chr7:111391667..111392480,3	K562	blood:
6	chr7:111381392..111383489-chr7:112089378..112092065,2	K562	blood:
7	chr7:111381905..111382512-chr7:112154969..112155687,2	K562	blood:
8	chr7:111381582..111382456-chr7:112054719..112055629,4	K562	blood:
9	chr7:111381542..111382436-chr7:112135847..112136539,2	MCF-7	breast:
10	chr7:111381574..111382446-chr7:112050983..112051661,3	MCF-7	breast:

Variant related genes	Relation type
DOCK4	TF binding region
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10246451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10275090	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1054188	0.89[ASN][1000 genomes]
rs11767617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11971917	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12705797	0.95[ASN][1000 genomes]
rs17545234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2078984	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2097712	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2301678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779458	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3801792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4416770	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4730498	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6950977	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73432043	0.89[ASN][1000 genomes]
rs757031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7803753	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs867915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9641464	0.89[ASN][1000 genomes]
rs9641471	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9691349	1.00[CHB][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	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer 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
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111366600-111383000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:111366800-111384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:111366800-111394200	Weak transcription	Gastric	stomach
5	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
6	chr7:111368800-111383000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:111368800-111383200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:111368800-111383200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:111369200-111384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:111369200-111386000	Weak transcription	Spleen	Spleen
11	chr7:111370000-111383400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:111371200-111383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:111371600-111384600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:111371800-111383200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:111371800-111384600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:111373000-111383200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:111373400-111384200	Weak transcription	NHDF-Ad	bronchial
18	chr7:111373400-111384200	Weak transcription	NHLF	lung
19	chr7:111373600-111383000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:111373600-111383400	Weak transcription	Aorta	Aorta
21	chr7:111373600-111389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:111373600-111390200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
24	chr7:111373800-111387200	Weak transcription	Placenta	Placenta
25	chr7:111373800-111390000	Weak transcription	Psoas Muscle	Psoas
26	chr7:111374200-111383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:111375800-111383400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:111375800-111394200	Weak transcription	Fetal Heart	heart
29	chr7:111376000-111387200	Weak transcription	Fetal Brain Male	brain
30	chr7:111376000-111389000	Weak transcription	Fetal Muscle Leg	muscle
31	chr7:111376000-111399600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:111376600-111386600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:111376600-111397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:111376600-111398200	Weak transcription	A549	lung
35	chr7:111376800-111389200	Weak transcription	HSMMtube	muscle
36	chr7:111377000-111383600	Weak transcription	Left Ventricle	heart
37	chr7:111377000-111384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:111377000-111384200	Weak transcription	NH-A	brain
39	chr7:111377000-111384200	Weak transcription	NHEK	skin
40	chr7:111377000-111384400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:111377000-111390000	Weak transcription	Hela-S3	cervix
42	chr7:111377000-111396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:111377000-111396800	Weak transcription	HMEC	breast
44	chr7:111377800-111384200	Strong transcription	HUVEC	blood vessel
45	chr7:111378400-111384000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:111378400-111384600	Strong transcription	Adipose Nuclei	Adipose
47	chr7:111378600-111390200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:111378800-111389400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr7:111379400-111386400	Weak transcription	HepG2	liver
50	chr7:111379400-111393200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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