Variant report

Variant	rs2670884
Chromosome Location	chr8:131255834-131255835
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	chr8:131251770..131253963-chr8:131254539..131258197,4	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10091313	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10113410	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11775292	0.84[YRI][hapmap];0.81[ASN][1000 genomes]
rs12677193	0.81[JPT][hapmap]
rs13269464	0.94[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17212137	0.81[ASN][1000 genomes]
rs17282526	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2005040	0.89[ASN][1000 genomes]
rs2045092	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2123870	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2305513	0.80[JPT][hapmap]
rs2554373	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2554374	0.82[CEU][hapmap];0.80[JPT][hapmap]
rs2894508	0.83[ASN][1000 genomes]
rs4733568	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4733764	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4733776	0.81[ASN][1000 genomes]
rs6470799	0.84[ASN][1000 genomes]
rs6470800	0.94[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs6470802	0.84[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6988261	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6991975	0.81[CHB][hapmap]
rs6992305	0.94[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs6996422	0.87[ASN][1000 genomes]
rs7014800	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7015970	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7386417	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs7460645	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7816255	0.83[ASN][1000 genomes]
rs7832651	0.84[ASN][1000 genomes]
rs7833007	0.89[CEU][hapmap];0.94[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7834461	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7837226	0.81[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs966185	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]

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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
2	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131225800-131274800	Weak transcription	Hela-S3	cervix
5	chr8:131232200-131257000	Weak transcription	Lung	lung
6	chr8:131232400-131261200	Weak transcription	Fetal Stomach	stomach
7	chr8:131237400-131268000	Weak transcription	Fetal Lung	lung
8	chr8:131237600-131258000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:131238600-131257000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr8:131242400-131268200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:131244000-131262400	Weak transcription	Fetal Brain Female	brain
12	chr8:131244400-131259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:131246200-131257200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:131246400-131257000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:131247000-131257000	Weak transcription	Liver	Liver
16	chr8:131247000-131258200	Weak transcription	Pancreas	Pancrea
17	chr8:131248400-131256400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr8:131248400-131256400	Weak transcription	Psoas Muscle	Psoas
19	chr8:131248400-131257000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:131248400-131257000	Weak transcription	Dnd41	blood
21	chr8:131248400-131258600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:131248600-131256600	Weak transcription	Fetal Thymus	thymus
23	chr8:131248800-131256000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:131249000-131259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:131249200-131256000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:131250000-131267000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:131250600-131256400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr8:131250600-131256400	Weak transcription	HSMMtube	muscle
29	chr8:131250600-131256800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:131250600-131256800	Weak transcription	NHEK	skin
31	chr8:131250600-131259200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:131250800-131256400	Weak transcription	Ovary	ovary
33	chr8:131250800-131260200	Weak transcription	HMEC	breast
34	chr8:131250800-131266800	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:131250800-131270600	Weak transcription	NH-A	brain
36	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:131251200-131258200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:131251600-131257000	Enhancers	Primary T cells from cord blood	blood
39	chr8:131251600-131257000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:131251600-131257000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr8:131251600-131257000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:131251600-131257400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:131251600-131257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:131251800-131260200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr8:131252000-131256600	Weak transcription	HUVEC	blood vessel
46	chr8:131252000-131257000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:131252000-131262800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:131252000-131263000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:131252200-131270400	Weak transcription	Aorta	Aorta
50	chr8:131252400-131259800	Enhancers	Primary neutrophils fromperipheralblood	blood

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