Variant report

Variant	rs4657609
Chromosome Location	chr1:166839174-166839175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166820509..166822405-chr1:166838571..166841698,3	MCF-7	breast:
2	chr1:166825697..166827506-chr1:166838804..166841521,2	MCF-7	breast:
3	chr1:166820820..166822581-chr1:166839055..166840808,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10800270	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10800276	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11576455	0.88[EUR][1000 genomes]
rs11583927	0.98[ASN][1000 genomes]
rs11584352	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12062326	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12562794	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1476347	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1543313	0.99[ASN][1000 genomes]
rs2072740	0.99[ASN][1000 genomes]
rs2075946	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2223221	0.96[ASN][1000 genomes]
rs2235184	0.83[EUR][1000 genomes]
rs2280995	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2294195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34381372	0.98[ASN][1000 genomes]
rs3820387	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4656516	0.98[ASN][1000 genomes]
rs4657612	0.96[ASN][1000 genomes]
rs4657613	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7513457	0.96[ASN][1000 genomes]
rs9633326	0.97[ASN][1000 genomes]

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	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 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	chr1:166809600-166844400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:166810800-166839200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:166810800-166839200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:166811200-166839800	Strong transcription	Primary T cells from cord blood	blood
5	chr1:166813200-166840600	Strong transcription	Dnd41	blood
6	chr1:166813600-166839200	Strong transcription	Duodenum Mucosa	Duodenum
7	chr1:166819400-166841400	Weak transcription	Stomach Mucosa	stomach
8	chr1:166819800-166842600	Weak transcription	Small Intestine	intestine
9	chr1:166825000-166844400	Weak transcription	HSMMtube	muscle
10	chr1:166825600-166839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:166827000-166840800	Weak transcription	Psoas Muscle	Psoas
12	chr1:166829200-166843400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:166829200-166844200	Weak transcription	Fetal Heart	heart
14	chr1:166829200-166844400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:166829400-166840600	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:166831000-166841400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr1:166831600-166839200	Weak transcription	Brain Substantia Nigra	brain
18	chr1:166831600-166841800	Weak transcription	Esophagus	oesophagus
19	chr1:166831600-166844600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:166831800-166839200	Weak transcription	Brain Angular Gyrus	brain
21	chr1:166831800-166844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:166831800-166844400	Weak transcription	Fetal Kidney	kidney
23	chr1:166833800-166839200	Weak transcription	Pancreas	Pancrea
24	chr1:166834000-166839200	Weak transcription	Ovary	ovary
25	chr1:166834200-166843800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:166834200-166844800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:166835400-166841200	Weak transcription	Right Atrium	heart
28	chr1:166835600-166842600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:166836200-166839800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:166836800-166840000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr1:166836800-166844400	Weak transcription	NH-A	brain
32	chr1:166837800-166843800	Weak transcription	Fetal Brain Male	brain
33	chr1:166837800-166843800	Weak transcription	HUVEC	blood vessel
34	chr1:166837800-166844200	Weak transcription	NHDF-Ad	bronchial
35	chr1:166838000-166839200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:166838000-166842600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:166838000-166843800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:166838000-166844200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:166838200-166839200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:166838200-166839200	Enhancers	Liver	Liver
41	chr1:166838200-166839200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr1:166838200-166839200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:166838200-166839200	Weak transcription	Fetal Brain Female	brain
44	chr1:166838200-166839200	Weak transcription	Left Ventricle	heart
45	chr1:166838200-166839200	Weak transcription	Right Ventricle	heart
46	chr1:166838200-166839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:166838200-166839800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:166838200-166839800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:166838200-166840800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr1:166838200-166841200	Weak transcription	Primary B cells from cord blood	blood

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