Variant report

Variant	rs686236
Chromosome Location	chr7:63794017-63794018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:63766509..63769383-chr7:63791477..63794071,2	K562	blood:

Variant related genes	Relation type
ENSG00000234444	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11763268	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs12672662	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2082661	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs2091267	0.89[ASN][1000 genomes]
rs2618262	1.00[ASN][1000 genomes]
rs2692110	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs34764583	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs4562194	0.92[ASN][1000 genomes]
rs581612	1.00[ASN][1000 genomes]
rs583281	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs587711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs590890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs599238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600417	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs600443	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602605	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs605615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607988	1.00[ASN][1000 genomes]
rs610780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615957	1.00[ASN][1000 genomes]
rs616074	0.87[ASN][1000 genomes]
rs618757	0.91[ASN][1000 genomes]
rs620631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs623717	0.98[ASN][1000 genomes]
rs624320	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs62461462	1.00[ASN][1000 genomes]
rs628142	0.92[ASN][1000 genomes]
rs628388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs630324	0.92[ASN][1000 genomes]
rs630376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs633702	0.98[ASN][1000 genomes]
rs636404	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs636413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639274	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs641215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642158	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642524	0.84[ASN][1000 genomes]
rs657683	0.89[ASN][1000 genomes]
rs657733	0.87[AFR][1000 genomes]
rs659055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659604	1.00[ASN][1000 genomes]
rs661173	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs662978	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs663869	1.00[ASN][1000 genomes]
rs664631	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs673182	0.82[ASN][1000 genomes]
rs676535	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs682158	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs682587	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs684437	1.00[ASN][1000 genomes]
rs685617	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686539	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs687484	1.00[ASN][1000 genomes]
rs688262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776294	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776295	1.00[ASN][1000 genomes]
rs776298	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9647726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888255	chr7:63175168-63990100	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv534361	chr7:63328472-63955286	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv888259	chr7:63363001-64009193	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv464514	chr7:63383123-63847894	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv607304	chr7:63383123-63847894	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1016466	chr7:63438466-63969492	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1019217	chr7:63520745-63802106	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv522412	chr7:63599625-63889709	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	esv3440559	chr7:63610519-63904964	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3491487	chr7:63610542-63904912	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3491488	chr7:63610542-63904912	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3422236	chr7:63610554-63907181	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv1018858	chr7:63610707-63903255	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1032542	chr7:63617828-63898016	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv538891	chr7:63617828-63898016	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
16	nsv429759	chr7:63662150-64110550	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	nsv429760	chr7:63687850-64110550	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
19	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
20	nsv429761	chr7:63747498-64096138	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv888269	chr7:63758482-63866003	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv482324	chr7:63764660-63934144	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	esv2764000	chr7:63766980-64275251	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
24	esv1804676	chr7:63779013-63819849	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv1811140	chr7:63781729-63807332	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
26	esv1822387	chr7:63785789-63840059	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
27	nsv429762	chr7:63790450-64110550	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:63775600-63798800	Weak transcription	Right Ventricle	heart
2	chr7:63776600-63817800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:63785200-63797200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr7:63788000-63797200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:63788000-63812800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
6	chr7:63789400-63794800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr7:63789600-63794400	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr7:63789600-63794600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:63790000-63794400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr7:63790000-63794400	ZNF genes & repeats	Left Ventricle	heart
11	chr7:63790000-63794600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:63790000-63797400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr7:63790000-63797800	ZNF genes & repeats	Liver	Liver
14	chr7:63790200-63795000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:63790200-63816600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:63790200-63820200	ZNF genes & repeats	Adipose Nuclei	Adipose
17	chr7:63790200-63826600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:63791400-63794800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:63791600-63797200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:63792000-63797200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:63792000-63797200	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:63792200-63798800	Weak transcription	Brain Angular Gyrus	brain
23	chr7:63792400-63797200	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr7:63792400-63797200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:63792400-63800000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:63792400-63800400	Weak transcription	Pancreas	Pancrea
27	chr7:63792600-63797200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:63792600-63797200	Weak transcription	Gastric	stomach
29	chr7:63792600-63797200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:63792600-63797400	Weak transcription	Osteobl	bone
31	chr7:63792800-63798800	Weak transcription	Thymus	Thymus
32	chr7:63793800-63795400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:63793800-63797200	Weak transcription	Ovary	ovary
34	chr7:63793800-63800400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:63794000-63795800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:63794000-63795800	Weak transcription	Dnd41	blood
37	chr7:63794000-63796000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:63794000-63796200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:63794000-63796200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:63794000-63804400	Weak transcription	Placenta	Placenta

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