Variant report

Variant	rs73924971
Chromosome Location	chr2:37272628-37272629
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	chr2:37258831..37261022-chr2:37271777..37274021,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1019311	1.00[EUR][1000 genomes]
rs11892892	1.00[EUR][1000 genomes]
rs11896317	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2110943	1.00[EUR][1000 genomes]
rs2160378	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2247610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540927	1.00[EUR][1000 genomes]
rs2540928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540932	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2540935	1.00[EUR][1000 genomes]
rs2540937	0.83[AMR][1000 genomes]
rs2541003	1.00[EUR][1000 genomes]
rs2541005	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691103	1.00[EUR][1000 genomes]
rs2691108	1.00[EUR][1000 genomes]
rs2691113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2691121	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706810	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2706812	1.00[EUR][1000 genomes]
rs2706816	1.00[EUR][1000 genomes]
rs2717498	1.00[EUR][1000 genomes]
rs2717499	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717502	1.00[EUR][1000 genomes]
rs2717504	1.00[EUR][1000 genomes]
rs2717506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717514	1.00[EUR][1000 genomes]
rs2717515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2717521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2949393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57644053	1.00[AMR][1000 genomes]
rs59709996	1.00[AMR][1000 genomes]
rs61085492	1.00[EUR][1000 genomes]
rs61382980	0.83[AMR][1000 genomes]
rs61561618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6708710	1.00[EUR][1000 genomes]
rs6734109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6738016	1.00[EUR][1000 genomes]
rs6750356	1.00[EUR][1000 genomes]
rs6758058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723674	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73924930	1.00[EUR][1000 genomes]
rs73924969	1.00[EUR][1000 genomes]
rs73924989	1.00[EUR][1000 genomes]
rs7593646	1.00[AMR][1000 genomes]
rs964853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1820206	chr2:37236821-37277811	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
2	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:37246800-37279800	Weak transcription	Pancreas	Pancrea
16	chr2:37247000-37279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:37248800-37279200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
19	chr2:37249000-37277400	Weak transcription	NHLF	lung
20	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:37252000-37279400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr2:37253400-37279400	Weak transcription	NHEK	skin
24	chr2:37253600-37278800	Weak transcription	Right Ventricle	heart
25	chr2:37253800-37289600	Weak transcription	Spleen	Spleen
26	chr2:37253800-37291000	Weak transcription	Aorta	Aorta
27	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:37254000-37279400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:37254200-37277000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:37254800-37279200	Weak transcription	A549	lung
31	chr2:37255200-37278800	Weak transcription	Colonic Mucosa	Colon
32	chr2:37255200-37279400	Weak transcription	Fetal Kidney	kidney
33	chr2:37255200-37279400	Weak transcription	K562	blood
34	chr2:37255200-37284400	Weak transcription	Ovary	ovary
35	chr2:37255400-37278800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:37255400-37279200	Weak transcription	HepG2	liver
37	chr2:37255400-37279400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:37257600-37273000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:37258200-37275600	Weak transcription	Fetal Heart	heart
40	chr2:37258400-37279200	Weak transcription	Gastric	stomach
41	chr2:37258400-37291800	Weak transcription	Esophagus	oesophagus
42	chr2:37260000-37279200	Weak transcription	Brain Substantia Nigra	brain
43	chr2:37261800-37273000	Strong transcription	Primary B cells from cord blood	blood
44	chr2:37263600-37275600	Weak transcription	Hela-S3	cervix
45	chr2:37263600-37279200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:37263600-37285000	Weak transcription	Fetal Brain Male	brain
47	chr2:37263800-37277800	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:37263800-37289400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:37264400-37279400	Weak transcription	HSMMtube	muscle
50	chr2:37265400-37276800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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