Variant report

Variant	rs764386
Chromosome Location	chr2:149285506-149285507
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	chr2:149282589..149285549-chr2:149375360..149378026,2	MCF-7	breast:
2	chr2:149281731..149283651-chr2:149284269..149286431,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1020468	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1031290	0.93[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs10454124	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10928399	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12468186	0.86[ASN][1000 genomes]
rs12472155	0.83[EUR][1000 genomes]
rs12616115	0.86[ASN][1000 genomes]
rs12619201	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12997473	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12997838	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13003132	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs13004738	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13008203	0.84[ASN][1000 genomes]
rs13029692	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16828791	0.89[ASN][1000 genomes]
rs16828816	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16829006	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1809051	0.84[ASN][1000 genomes]
rs2382231	0.94[ASN][1000 genomes]
rs34324924	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34881950	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4972285	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs4972369	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4972380	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972381	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972383	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6743835	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746352	0.90[CHB][hapmap]
rs6756002	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6761549	0.93[CEU][hapmap];0.91[CHB][hapmap]
rs720844	0.86[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7571333	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7590549	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7599758	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149267000-149286200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:149267200-149285600	Weak transcription	HSMMtube	muscle
4	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
5	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
6	chr2:149270600-149288400	Weak transcription	Fetal Heart	heart
7	chr2:149272400-149288800	Weak transcription	Left Ventricle	heart
8	chr2:149272600-149287600	Weak transcription	Pancreas	Pancrea
9	chr2:149273000-149286600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:149277200-149287000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:149280200-149287200	Enhancers	Thymus	Thymus
12	chr2:149281000-149288000	Enhancers	Fetal Thymus	thymus
13	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:149283000-149288800	Weak transcription	Right Atrium	heart
16	chr2:149283800-149287200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr2:149284000-149286800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr2:149284200-149286600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr2:149284400-149285600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:149284400-149285600	Enhancers	Primary hematopoietic stem cells	blood
21	chr2:149284400-149286400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:149284400-149290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:149284600-149286400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:149284800-149285800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:149284800-149285800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr2:149284800-149285800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr2:149284800-149286200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:149284800-149286400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:149284800-149286400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:149285000-149285800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr2:149285000-149286000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:149285000-149286200	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr2:149285000-149286800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:149285200-149286200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:149285200-149286200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:149285200-149286400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr2:149285200-149286400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr2:149285200-149286800	Enhancers	Dnd41	blood
39	chr2:149285400-149285600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:149285400-149285600	Enhancers	Fetal Muscle Leg	muscle
41	chr2:149285400-149286200	Bivalent Enhancer	HepG2	liver
42	chr2:149285400-149286400	Enhancers	GM12878-XiMat	blood

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