Variant report

Variant	rs9986766
Chromosome Location	chr7:38237291-38237292
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38233687..38235953-chr7:38237022..38238979,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1014136	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10224886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10234310	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10254082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10282163	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10464362	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11766931	0.99[ASN][1000 genomes]
rs11773477	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669726	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12670582	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17410426	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270165	0.99[ASN][1000 genomes]
rs2392540	0.99[ASN][1000 genomes]
rs28664954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778894	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55915216	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56147907	0.99[ASN][1000 genomes]
rs56228793	0.98[ASN][1000 genomes]
rs60713125	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62443299	0.91[ASN][1000 genomes]
rs62443315	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9638935	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639788	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016355	chr7:38168232-38372719	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv830963	chr7:38172988-38344779	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv830964	chr7:38218708-38390518	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1030349	chr7:38227528-38372719	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv538818	chr7:38227528-38372719	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
9	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv433041	chr7:38229107-38358728	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38218600-38259200	Weak transcription	Colonic Mucosa	Colon
2	chr7:38219600-38241400	Weak transcription	Fetal Intestine Large	intestine
3	chr7:38220200-38246600	Weak transcription	Fetal Thymus	thymus
4	chr7:38220200-38254800	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:38220400-38247000	Weak transcription	Fetal Intestine Small	intestine
6	chr7:38221000-38246800	Weak transcription	Primary T cells from cord blood	blood
7	chr7:38223600-38255600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:38225000-38247000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:38227000-38237400	Weak transcription	Aorta	Aorta
10	chr7:38227600-38238400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:38228000-38256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:38228200-38237400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:38228200-38237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:38228200-38239400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:38228200-38241400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr7:38228200-38254400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:38228800-38239600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:38228800-38247200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:38229200-38249200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:38229600-38246600	Weak transcription	Primary B cells from cord blood	blood
21	chr7:38229800-38237400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:38229800-38246400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:38230200-38259200	Weak transcription	K562	blood
24	chr7:38230600-38241200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:38231400-38241800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:38231600-38247200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:38231800-38238800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:38232000-38246800	Weak transcription	Fetal Lung	lung
29	chr7:38232400-38247200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:38232400-38255000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:38232800-38255200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr7:38232800-38256000	Weak transcription	Fetal Brain Male	brain
33	chr7:38234400-38247200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:38235000-38239400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:38235200-38237600	Enhancers	Dnd41	blood
36	chr7:38235200-38238600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:38235200-38238600	Enhancers	HSMMtube	muscle
38	chr7:38235200-38251400	Weak transcription	Brain Angular Gyrus	brain
39	chr7:38235400-38237600	Enhancers	NHLF	lung
40	chr7:38235400-38238000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:38235400-38238400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr7:38235400-38238400	Enhancers	NHDF-Ad	bronchial
43	chr7:38235400-38238600	Enhancers	Muscle Satellite Cultured Cells	--
44	chr7:38235400-38238600	Enhancers	NH-A	brain
45	chr7:38235400-38239200	Enhancers	Osteobl	bone
46	chr7:38235400-38240400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:38235400-38240600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:38235400-38240800	Enhancers	Colon Smooth Muscle	Colon
49	chr7:38235600-38239800	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr7:38235800-38237400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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