Variant report

Variant	rs612187
Chromosome Location	chr8:61437455-61437456
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61434949..61437571-chr8:61440518..61442116,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17292465	1.00[AFR][1000 genomes]
rs28572193	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:61432000-61437600	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:61432000-61440200	Enhancers	Liver	Liver
9	chr8:61432200-61437800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
12	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:61432800-61437800	Enhancers	Osteobl	bone
14	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:61433000-61438400	Enhancers	Fetal Heart	heart
16	chr8:61433200-61441600	Enhancers	Adipose Nuclei	Adipose
17	chr8:61433400-61438000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr8:61433600-61438800	Weak transcription	Fetal Thymus	thymus
19	chr8:61433800-61446600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:61433800-61472600	Weak transcription	HUVEC	blood vessel
21	chr8:61434000-61438400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:61434000-61447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:61434200-61437800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:61434400-61438200	Enhancers	Primary T cells from cord blood	blood
25	chr8:61434400-61438400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:61434600-61438200	Enhancers	Stomach Mucosa	stomach
27	chr8:61434600-61439200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:61434600-61467600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:61434600-61472600	Weak transcription	Placenta	Placenta
30	chr8:61434800-61438600	Weak transcription	Lung	lung
31	chr8:61434800-61438800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:61434800-61438800	Weak transcription	Esophagus	oesophagus
33	chr8:61434800-61438800	Weak transcription	Gastric	stomach
34	chr8:61434800-61438800	Weak transcription	Left Ventricle	heart
35	chr8:61434800-61438800	Weak transcription	Pancreas	Pancrea
36	chr8:61434800-61438800	Weak transcription	Right Atrium	heart
37	chr8:61434800-61445000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:61434800-61446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr8:61434800-61446600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:61434800-61452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:61434800-61458000	Weak transcription	Dnd41	blood
42	chr8:61434800-61480600	Weak transcription	HMEC	breast
43	chr8:61435000-61437600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:61435000-61440600	Weak transcription	K562	blood
45	chr8:61435400-61445800	Weak transcription	Fetal Intestine Large	intestine
46	chr8:61435400-61470800	Weak transcription	NHEK	skin
47	chr8:61435400-61471800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr8:61435600-61446600	Weak transcription	A549	lung
49	chr8:61435800-61437800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:61435800-61438200	Enhancers	Primary T cells fromperipheralblood	blood

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