Variant report

Variant	rs4629900
Chromosome Location	chr8:117767621-117767622
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117766167..117768500-chr8:117885619..117887391,2	K562	blood:
2	chr8:117767454..117768307-chr8:117778310..117778850,2	MCF-7	breast:
3	chr8:117766057..117771164-chr8:117775647..117780363,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264875	Chromatin interaction
ENSG00000147677	Chromatin interaction
ENSG00000147679	Chromatin interaction
ENSG00000164754	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085939	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10086419	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10088177	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10093551	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10096134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10105610	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10112279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10112604	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10505282	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[ASN][1000 genomes]
rs10505287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10808484	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11781970	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12547058	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1317271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13258529	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13262725	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13277714	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13277958	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13279543	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1347626	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1436765	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1436766	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1529945	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17811708	0.83[AFR][1000 genomes]
rs2118108	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3088140	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34038266	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs34519652	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35338453	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35905748	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4256624	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4278180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4289846	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4289847	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4335152	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4335153	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4422805	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4472547	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4601347	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4623456	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4645587	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs55951040	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469656	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6469657	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6980504	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6983032	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6988841	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7001938	0.86[AFR][1000 genomes]
rs7007250	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7013617	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7464414	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7820778	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7830860	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7833054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7836549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837313	0.81[JPT][hapmap]
rs7843852	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7846316	0.81[JPT][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117766200-117768600	Active TSS	GM12878-XiMat	blood
2	chr8:117766400-117769200	Active TSS	K562	blood
3	chr8:117766600-117768600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:117766600-117768800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:117766600-117768800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:117766600-117768800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:117766800-117767800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:117766800-117767800	Flanking Active TSS	Liver	Liver
9	chr8:117766800-117768000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:117766800-117768600	Active TSS	H1 Cell Line	embryonic stem cell
11	chr8:117766800-117768600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:117766800-117768600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr8:117766800-117768600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr8:117766800-117768600	Active TSS	Right Ventricle	heart
15	chr8:117766800-117768600	Active TSS	HSMMtube	muscle
16	chr8:117766800-117768800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:117766800-117768800	Active TSS	A549	lung
18	chr8:117767000-117767800	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr8:117767000-117768400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:117767000-117768400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:117767000-117768600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:117767000-117768600	Active TSS	Fetal Intestine Large	intestine
23	chr8:117767000-117768600	Active TSS	Fetal Muscle Leg	muscle
24	chr8:117767000-117768600	Active TSS	Placenta	Placenta
25	chr8:117767000-117768600	Active TSS	Psoas Muscle	Psoas
26	chr8:117767000-117768600	Active TSS	HSMM	muscle
27	chr8:117767000-117768600	Active TSS	NHEK	skin
28	chr8:117767000-117768800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:117767000-117768800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:117767000-117768800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr8:117767000-117768800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr8:117767000-117768800	Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:117767000-117768800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr8:117767000-117768800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:117767000-117768800	Active TSS	Fetal Kidney	kidney
36	chr8:117767000-117768800	Active TSS	HMEC	breast
37	chr8:117767000-117768800	Active TSS	NHDF-Ad	bronchial
38	chr8:117767200-117767800	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr8:117767200-117767800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr8:117767200-117767800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:117767200-117767800	Flanking Active TSS	Thymus	Thymus
42	chr8:117767200-117768400	Active TSS	Stomach Mucosa	stomach
43	chr8:117767200-117768600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr8:117767200-117768600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr8:117767200-117768600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:117767200-117768600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:117767200-117768600	Active TSS	Fetal Muscle Trunk	muscle
48	chr8:117767200-117768600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr8:117767200-117768600	Active TSS	Right Atrium	heart
50	chr8:117767200-117768600	Active TSS	Hela-S3	cervix

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