Variant report

Variant	rs36004599
Chromosome Location	chr8:131281579-131281580
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	chr8:131281505..131283976-chr8:131286919..131289472,2	K562	blood:
2	chr8:131279813..131282288-chr8:131286775..131289036,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1008819	0.81[AFR][1000 genomes]
rs1030386	0.82[ASN][1000 genomes]
rs11993716	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12676014	0.93[ASN][1000 genomes]
rs12676536	0.83[EUR][1000 genomes]
rs12676977	0.83[EUR][1000 genomes]
rs12681590	0.82[ASN][1000 genomes]
rs13253189	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13256967	0.82[EUR][1000 genomes]
rs13269931	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16904220	0.93[ASN][1000 genomes]
rs16904228	0.93[ASN][1000 genomes]
rs2114197	0.93[ASN][1000 genomes]
rs34387098	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34857454	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55815182	0.85[ASN][1000 genomes]
rs56086422	0.82[ASN][1000 genomes]
rs58012966	0.85[ASN][1000 genomes]
rs61558949	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66488832	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6986746	0.93[ASN][1000 genomes]
rs7006658	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7014715	0.85[ASN][1000 genomes]
rs7018391	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836536	0.85[ASN][1000 genomes]
rs7837833	0.80[EUR][1000 genomes]
rs897050	0.80[EUR][1000 genomes]
rs9942745	0.81[EUR][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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131250800-131289200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr8:131257400-131281600	Weak transcription	Gastric	stomach
3	chr8:131268400-131281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131268400-131291400	Weak transcription	Fetal Intestine Large	intestine
5	chr8:131270600-131283600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:131270600-131291200	Weak transcription	Liver	Liver
7	chr8:131272200-131286600	Weak transcription	Primary B cells from cord blood	blood
8	chr8:131275400-131283000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:131275600-131289000	Weak transcription	Fetal Intestine Small	intestine
10	chr8:131276800-131282000	Enhancers	NHDF-Ad	bronchial
11	chr8:131276800-131288800	Weak transcription	Placenta	Placenta
12	chr8:131277000-131282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:131277000-131288200	Weak transcription	K562	blood
14	chr8:131277400-131291200	Weak transcription	Thymus	Thymus
15	chr8:131277600-131282200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:131278000-131288800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:131278200-131288800	Weak transcription	Esophagus	oesophagus
18	chr8:131278400-131289200	Weak transcription	Fetal Thymus	thymus
19	chr8:131278600-131281600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:131278600-131282000	Weak transcription	Lung	lung
21	chr8:131278600-131282200	Enhancers	A549	lung
22	chr8:131278600-131283200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:131278600-131283200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:131278600-131289000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:131278600-131289200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr8:131278800-131283000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:131279000-131282800	Weak transcription	HMEC	breast
28	chr8:131279200-131282600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr8:131279400-131282000	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:131279600-131282000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:131279600-131282400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:131279600-131282400	Enhancers	Fetal Stomach	stomach
33	chr8:131279600-131282600	Enhancers	Colon Smooth Muscle	Colon
34	chr8:131279600-131282600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr8:131279600-131282800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:131279600-131284000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr8:131279800-131281600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:131279800-131281600	Enhancers	HSMMtube	muscle
39	chr8:131279800-131282400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr8:131279800-131282400	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr8:131279800-131282400	Enhancers	Adipose Nuclei	Adipose
42	chr8:131279800-131283600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:131280000-131281600	Enhancers	Fetal Lung	lung
44	chr8:131280000-131282200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:131280000-131282200	Enhancers	Ovary	ovary
46	chr8:131280000-131282400	Enhancers	Brain Substantia Nigra	brain
47	chr8:131280000-131282400	Enhancers	Right Atrium	heart
48	chr8:131280000-131282600	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:131280000-131282600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr8:131280200-131281600	Enhancers	Pancreatic Islets	Pancreatic Islet

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