Variant report

Variant	rs7017626
Chromosome Location	chr8:62052388-62052389
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61589463..61592430-chr8:62051338..62054107,2	K562	blood:

Variant related genes	Relation type
ENSG00000171316	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10104116	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs10108726	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10112795	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13278769	1.00[JPT][hapmap]
rs1347004	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1367973	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs1367974	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17831345	0.82[CEU][hapmap];0.83[EUR][1000 genomes]
rs2007873	0.82[ASN][1000 genomes]
rs2052993	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2919303	0.82[JPT][hapmap]
rs2919305	0.82[JPT][hapmap]
rs2931292	0.82[JPT][hapmap]
rs2931322	1.00[JPT][hapmap]
rs2931323	1.00[JPT][hapmap]
rs2978498	1.00[JPT][hapmap]
rs2978558	0.82[JPT][hapmap]
rs56699308	0.81[EUR][1000 genomes]
rs6983455	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017483	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7824081	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650205	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv465698	chr8:62036793-62179465	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv611426	chr8:62036793-62179465	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1026243	chr8:62039073-62101123	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62051000-62052600	Enhancers	Fetal Heart	heart
2	chr8:62051400-62052400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:62051400-62052400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr8:62051400-62052400	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr8:62051400-62052400	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr8:62051400-62052400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:62051400-62052400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:62051400-62052400	Active TSS	Brain Substantia Nigra	brain
9	chr8:62051400-62052400	Active TSS	Fetal Brain Male	brain
10	chr8:62051400-62052600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:62051400-62052600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:62051400-62052800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:62051400-62052800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr8:62051400-62052800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:62051400-62052800	Active TSS	Brain Cingulate Gyrus	brain
16	chr8:62051400-62052800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
17	chr8:62051400-62053000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr8:62051600-62052400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr8:62051600-62052400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:62051600-62052400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
21	chr8:62051600-62052400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr8:62051600-62052400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
23	chr8:62051600-62052400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
24	chr8:62051600-62052400	Bivalent/Poised TSS	HSMM	muscle
25	chr8:62051600-62052400	Bivalent/Poised TSS	NHLF	lung
26	chr8:62051600-62052600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:62051600-62052600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr8:62051600-62052600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:62051600-62052600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:62051600-62052600	Flanking Active TSS	Primary B cells from peripheral blood	blood
31	chr8:62051600-62052600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
32	chr8:62051600-62052600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:62051600-62052600	Active TSS	Fetal Kidney	kidney
34	chr8:62051600-62052600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
35	chr8:62051600-62052600	Active TSS	Right Atrium	heart
36	chr8:62051600-62052600	Enhancers	Spleen	Spleen
37	chr8:62051600-62052600	Flanking Bivalent TSS/Enh	HMEC	breast
38	chr8:62051600-62052600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
39	chr8:62051600-62052600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr8:62051600-62052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr8:62051600-62052800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:62051600-62053000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr8:62051800-62052400	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr8:62051800-62052400	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
45	chr8:62051800-62052400	Active TSS	Brain Angular Gyrus	brain
46	chr8:62051800-62052400	Active TSS	Brain Anterior Caudate	brain
47	chr8:62051800-62052400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr8:62051800-62052400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr8:62051800-62052400	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr8:62051800-62052400	Bivalent/Poised TSS	HSMMtube	muscle

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