Variant report

Variant	rs7844231
Chromosome Location	chr8:59506032-59506033
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59464523..59466345-chr8:59503286..59506269,2	K562	blood:
2	chr8:59503947..59506105-chr8:59507137..59508940,2	K562	blood:
3	chr8:59501580..59503825-chr8:59505050..59507030,2	K562	blood:

Variant related genes	Relation type
ENSG00000035681	Chromatin interaction
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10085973	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs10090425	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.87[EUR][1000 genomes]
rs10090964	0.84[CEU][hapmap]
rs10094910	0.88[EUR][1000 genomes]
rs10099153	0.87[CEU][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs10099240	0.88[EUR][1000 genomes]
rs10099912	0.88[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs10102709	0.83[CEU][hapmap]
rs10104292	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes]
rs10107530	0.87[EUR][1000 genomes]
rs10111052	0.96[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs10111180	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs10113323	0.80[CEU][hapmap]
rs10113750	0.83[CEU][hapmap]
rs10504256	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.96[EUR][1000 genomes]
rs1050488	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1050504	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs11774558	0.88[EUR][1000 genomes]
rs11776003	0.84[CEU][hapmap]
rs11782455	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11783174	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs11785141	0.88[EUR][1000 genomes]
rs12335008	0.80[EUR][1000 genomes]
rs12674568	0.83[CEU][hapmap]
rs12676593	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs12677290	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes]
rs12679938	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs12680996	0.83[CEU][hapmap]
rs16923588	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16923594	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs17263989	0.84[CEU][hapmap]
rs17272151	0.87[CEU][hapmap]
rs1976162	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1991359	0.84[CEU][hapmap]
rs2255834	0.90[JPT][hapmap]
rs2279460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2279462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2634527	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2634530	0.91[JPT][hapmap]
rs2634531	0.87[JPT][hapmap]
rs2680897	0.91[JPT][hapmap]
rs2680899	0.90[JPT][hapmap]
rs28711402	0.80[EUR][1000 genomes]
rs3739327	0.89[EUR][1000 genomes]
rs3808609	0.83[CEU][hapmap]
rs3816846	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4282557	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.88[EUR][1000 genomes]
rs4400366	0.96[EUR][1000 genomes]
rs4400367	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes]
rs4579515	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[EUR][1000 genomes]
rs4737504	0.81[JPT][hapmap]
rs56249776	0.88[EUR][1000 genomes]
rs59979442	0.81[EUR][1000 genomes]
rs6471729	0.84[CEU][hapmap]
rs6471731	0.83[EUR][1000 genomes]
rs6981601	0.83[CEU][hapmap]
rs6987187	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs6991020	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6995115	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.97[EUR][1000 genomes]
rs7009248	0.84[CEU][hapmap]
rs7009374	0.84[CEU][hapmap]
rs7011095	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs72647435	0.80[EUR][1000 genomes]
rs72647437	0.80[EUR][1000 genomes]
rs72647443	0.95[EUR][1000 genomes]
rs7820921	0.80[JPT][hapmap]
rs7825996	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs7826122	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7827910	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs7840932	0.96[EUR][1000 genomes]
rs7843989	0.84[EUR][1000 genomes]
rs9297996	0.96[EUR][1000 genomes]
rs9297997	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs9297998	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[EUR][1000 genomes]
rs9297999	0.87[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59473000-59506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:59473200-59508600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:59477000-59508200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr8:59477200-59506200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:59477800-59508800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:59478000-59506400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:59478000-59508200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr8:59478000-59508600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr8:59478000-59508800	Strong transcription	Fetal Intestine Large	intestine
13	chr8:59479600-59508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:59483200-59508800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr8:59483800-59528000	Strong transcription	Dnd41	blood
17	chr8:59494000-59507000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:59494400-59506400	Weak transcription	Colonic Mucosa	Colon
19	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
20	chr8:59495800-59506400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:59496000-59507000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr8:59496000-59507600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:59496800-59507800	Weak transcription	Small Intestine	intestine
24	chr8:59498200-59507400	Strong transcription	Placenta	Placenta
25	chr8:59498600-59506400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:59498600-59507000	Weak transcription	Fetal Kidney	kidney
27	chr8:59498600-59511200	Weak transcription	Right Ventricle	heart
28	chr8:59498600-59511800	Weak transcription	Brain Germinal Matrix	brain
29	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
30	chr8:59498800-59507000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:59499200-59506400	Weak transcription	NHEK	skin
32	chr8:59499800-59506200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:59500000-59506600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr8:59500200-59506200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr8:59500200-59524600	Weak transcription	HepG2	liver
36	chr8:59500400-59506400	Weak transcription	Lung	lung
37	chr8:59500400-59506400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:59500600-59506200	Weak transcription	Brain Angular Gyrus	brain
39	chr8:59500600-59506200	Weak transcription	Brain Hippocampus Middle	brain
40	chr8:59500600-59506200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr8:59500600-59506400	Weak transcription	Aorta	Aorta
42	chr8:59500600-59506400	Weak transcription	Fetal Stomach	stomach
43	chr8:59500600-59506400	Weak transcription	Gastric	stomach
44	chr8:59500600-59506400	Weak transcription	Ovary	ovary
45	chr8:59500600-59506400	Weak transcription	Pancreas	Pancrea
46	chr8:59500600-59506400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr8:59500600-59506400	Weak transcription	Spleen	Spleen
48	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
49	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr8:59501600-59507800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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