Variant report

Variant	rs7006336
Chromosome Location	chr8:131153067-131153068
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	chr8:131140935..131143868-chr8:131153030..131155718,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10505548	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10505549	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs10956513	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.83[ASN][1000 genomes]
rs10956515	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs10956517	0.84[ASN][1000 genomes]
rs11781752	0.89[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12541083	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs12542411	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12545910	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12546088	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.90[TSI][hapmap]
rs12546603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12547397	0.83[ASN][1000 genomes]
rs12547540	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs12675543	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12675865	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12676836	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12679283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681954	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12681955	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1417007	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1467048	0.92[CEU][hapmap];0.86[GIH][hapmap]
rs1469286	0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1549455	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16893271	0.81[ASN][1000 genomes]
rs16904190	0.83[CHB][hapmap]
rs16904197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs16904199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16904204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904208	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16904212	0.86[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16904219	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16904223	0.86[ASN][1000 genomes]
rs16904231	1.00[ASW][hapmap];0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs16904239	0.80[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs16904241	0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs16904249	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1960661	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1974313	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2027377	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2045091	1.00[CEU][hapmap]
rs2305511	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2395989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs36004574	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3812476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4236749	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.87[TSI][hapmap]
rs4461944	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4733569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4733573	0.80[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs4733771	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4733772	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4733782	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4733783	1.00[ASW][hapmap];0.80[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.84[TSI][hapmap]
rs4733788	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs55759245	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55993168	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs57198371	0.84[ASN][1000 genomes]
rs59297824	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62524627	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62524628	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62524629	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62524632	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62524635	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524643	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62524644	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62524647	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524649	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62525884	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62525885	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62525888	0.87[ASN][1000 genomes]
rs62525889	0.87[ASN][1000 genomes]
rs62525921	0.81[ASN][1000 genomes]
rs62525922	0.82[ASN][1000 genomes]
rs6415511	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6470813	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6470814	0.80[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs6991714	1.00[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6996106	0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6996469	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs716077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72722330	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72722366	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs72722371	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72724420	0.80[ASN][1000 genomes]
rs7462286	0.93[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs754021	0.80[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
4	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
5	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
7	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
11	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
12	chr8:131143000-131153200	Strong transcription	Placenta	Placenta
13	chr8:131143000-131155200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:131143400-131153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:131144000-131156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:131145800-131155400	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:131146400-131154800	Weak transcription	Gastric	stomach
18	chr8:131146400-131158200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:131146600-131153400	Weak transcription	Right Ventricle	heart
20	chr8:131146600-131178800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:131147200-131163800	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:131147400-131194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr8:131147600-131154200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:131147600-131154800	Weak transcription	Stomach Mucosa	stomach
26	chr8:131147600-131155800	Weak transcription	Fetal Kidney	kidney
27	chr8:131147600-131159800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr8:131147600-131162000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:131147600-131170400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:131147600-131199800	Weak transcription	Pancreas	Pancrea
31	chr8:131147800-131156200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:131148000-131183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr8:131148000-131194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:131148200-131154800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:131148400-131154800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:131148400-131169800	Weak transcription	K562	blood
37	chr8:131148600-131153400	Weak transcription	Right Atrium	heart
38	chr8:131148600-131153800	Strong transcription	HUVEC	blood vessel
39	chr8:131148600-131154400	Weak transcription	GM12878-XiMat	blood
40	chr8:131148600-131164800	Weak transcription	Brain Anterior Caudate	brain
41	chr8:131148600-131169800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:131148600-131170200	Weak transcription	Fetal Intestine Small	intestine
43	chr8:131149000-131154800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:131149000-131162000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:131149000-131168000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:131149000-131170600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:131149000-131178400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:131149200-131153600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:131149200-131156800	Weak transcription	Liver	Liver
50	chr8:131149200-131158600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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