Variant report

Variant	rs876575
Chromosome Location	chr8:131210851-131210852
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	chr8:131209387..131211593-chr8:131215187..131218348,4	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1017281	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10956511	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10956514	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1118887	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1123205	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs11774690	0.86[CHB][hapmap];0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs11774947	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs11775292	0.86[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs12546206	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12548888	0.98[ASN][1000 genomes]
rs12549794	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677193	0.81[CHB][hapmap]
rs12680942	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13258946	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs1340021	0.80[CHB][hapmap];0.86[JPT][hapmap]
rs1469288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1538728	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs16904190	0.87[JPT][hapmap]
rs16904191	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17212137	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs17284725	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17285138	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1978550	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2005030	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2033059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2085066	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs2114196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2305513	0.81[CHB][hapmap]
rs2554374	0.81[CHB][hapmap]
rs2894508	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs34656350	0.90[ASN][1000 genomes]
rs3935174	0.86[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs4733571	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs4733572	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733768	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4733770	0.82[ASN][1000 genomes]
rs4733775	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4733776	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4733777	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4733780	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4733781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62524650	0.98[ASN][1000 genomes]
rs62525919	0.91[ASN][1000 genomes]
rs6470805	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs6470815	0.86[CHB][hapmap];0.87[JPT][hapmap]
rs6991975	0.82[CHB][hapmap]
rs7012705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7018225	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs72722365	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7464885	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs747498	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs747499	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs750677	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs7832651	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs7834461	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs7837226	0.82[CHB][hapmap];0.84[ASN][1000 genomes]
rs7839155	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs874617	0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9643252	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
3	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
4	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
5	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:131195200-131212400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr8:131199200-131216800	Weak transcription	Stomach Mucosa	stomach
8	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
9	chr8:131200200-131212600	Weak transcription	Liver	Liver
10	chr8:131200600-131211000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:131200600-131215600	Weak transcription	Fetal Muscle Leg	muscle
12	chr8:131200600-131218400	Weak transcription	HepG2	liver
13	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
15	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
16	chr8:131205200-131215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:131206000-131212200	Enhancers	Brain Substantia Nigra	brain
18	chr8:131206200-131213400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr8:131206600-131211800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:131207000-131211600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:131207000-131212000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:131207000-131212600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr8:131207200-131211000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:131207200-131211200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr8:131207200-131211200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:131207200-131211400	Weak transcription	HSMMtube	muscle
27	chr8:131207200-131211400	Enhancers	Osteobl	bone
28	chr8:131207200-131211600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:131207200-131211600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:131207200-131213200	Weak transcription	GM12878-XiMat	blood
31	chr8:131207200-131215600	Weak transcription	Lung	lung
32	chr8:131207400-131212200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr8:131207600-131211000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:131207600-131212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:131207600-131212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:131207600-131212400	Weak transcription	Small Intestine	intestine
37	chr8:131207800-131211200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr8:131207800-131211200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr8:131207800-131211800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:131207800-131212000	Weak transcription	Primary B cells from cord blood	blood
41	chr8:131207800-131212400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:131207800-131218400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:131208000-131211000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:131208000-131211800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:131208000-131213000	Weak transcription	NHDF-Ad	bronchial
46	chr8:131208000-131213200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:131208200-131211000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:131208200-131211200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr8:131208200-131214800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr8:131208400-131214200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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