Variant report

Variant	rs4651210
Chromosome Location	chr1:184448410-184448411
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	chr1:184442540..184447165-chr1:184447352..184452325,7	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1007224	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs10737253	0.98[ASN][1000 genomes]
rs10797971	0.90[ASN][1000 genomes]
rs10797972	1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.86[ASN][1000 genomes]
rs10797977	0.89[EUR][1000 genomes]
rs10911606	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs11588922	0.84[ASN][1000 genomes]
rs12125349	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12127674	0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339563	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.80[GIH][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1339564	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1339565	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339566	0.92[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs1339567	0.88[EUR][1000 genomes]
rs1416752	0.84[CEU][hapmap];0.91[GIH][hapmap];0.83[TSI][hapmap]
rs1569842	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs1884200	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2001270	1.00[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs2038307	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038308	0.92[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs2144294	0.84[EUR][1000 genomes]
rs2180073	0.92[CEU][hapmap];0.87[CHB][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs2180077	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2207528	0.98[ASN][1000 genomes]
rs2378888	0.84[ASN][1000 genomes]
rs2890015	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4650667	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4651208	0.88[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4651211	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4651213	0.89[CEU][hapmap];0.89[GIH][hapmap];0.83[TSI][hapmap];0.82[EUR][1000 genomes]
rs4651216	0.86[ASN][1000 genomes]
rs4651217	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4651219	0.89[EUR][1000 genomes]
rs55729410	0.98[ASN][1000 genomes]
rs6661707	0.95[ASN][1000 genomes]
rs6666704	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7517518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7533466	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7544240	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9633308	0.82[GIH][hapmap]
rs9970984	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9970990	0.90[EUR][1000 genomes];0.84[ASN][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184429000-184454800	Weak transcription	Aorta	Aorta
2	chr1:184429400-184449600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:184430600-184449800	Weak transcription	Right Ventricle	heart
4	chr1:184430600-184450000	Weak transcription	Fetal Stomach	stomach
5	chr1:184433600-184449600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:184438000-184450600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:184439200-184453600	Weak transcription	Fetal Brain Female	brain
8	chr1:184441000-184452000	Weak transcription	Colonic Mucosa	Colon
9	chr1:184442800-184449200	Weak transcription	Placenta	Placenta
10	chr1:184442800-184449600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:184444200-184449000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:184444200-184449800	Weak transcription	Ovary	ovary
13	chr1:184444200-184449800	Weak transcription	Right Atrium	heart
14	chr1:184444200-184450400	Weak transcription	Pancreas	Pancrea
15	chr1:184444200-184453400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:184444400-184450400	Weak transcription	NHDF-Ad	bronchial
17	chr1:184444400-184452000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:184444600-184449800	Weak transcription	Adipose Nuclei	Adipose
19	chr1:184444600-184452600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:184444600-184460400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:184444800-184450000	Weak transcription	Fetal Lung	lung
22	chr1:184444800-184450400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:184444800-184451600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:184444800-184452200	Weak transcription	Fetal Kidney	kidney
25	chr1:184445400-184449000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:184445400-184449600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:184445600-184448800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:184445600-184449200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:184445600-184449400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:184445600-184449800	Weak transcription	Psoas Muscle	Psoas
31	chr1:184445800-184450200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:184446400-184449400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr1:184446400-184450600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:184446400-184452000	Weak transcription	Osteobl	bone
35	chr1:184446600-184450000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:184446600-184450000	Weak transcription	Lung	lung
37	chr1:184446600-184450000	Weak transcription	NHEK	skin
38	chr1:184446600-184450000	Weak transcription	NHLF	lung
39	chr1:184446800-184448600	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:184446800-184448800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:184446800-184449000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:184446800-184449000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:184446800-184449600	Weak transcription	Esophagus	oesophagus
44	chr1:184446800-184450800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:184446800-184451800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:184446800-184453000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:184447000-184454600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr1:184447200-184449400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:184447200-184452200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:184447400-184453600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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