Variant report

Variant	rs72980392
Chromosome Location	chr2:234381036-234381037
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234368802..234371740-chr2:234380703..234384400,4	MCF-7	breast:
2	chr2:234379094..234382048-chr2:234385373..234387118,2	K562	blood:
3	chr2:234378675..234382523-chr2:234390792..234394362,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11675254	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2228939	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754595	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768799	0.82[EUR][1000 genomes]
rs3768801	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768802	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820744	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56266844	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56336977	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6704644	0.90[AFR][1000 genomes]
rs6750618	0.95[ASN][1000 genomes]
rs72980361	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72980376	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982325	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234343200-234383000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:234344000-234382000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:234344200-234382000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
9	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr2:234344400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:234352400-234382000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:234352600-234381400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:234352600-234381600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:234352600-234381800	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:234352800-234382000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:234353400-234381600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:234353600-234381800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr2:234354000-234381600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:234357600-234382000	Strong transcription	Liver	Liver
22	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
23	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
24	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
27	chr2:234369200-234381400	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:234370000-234381600	Strong transcription	Fetal Thymus	thymus
29	chr2:234370000-234382000	Strong transcription	Thymus	Thymus
30	chr2:234370200-234381400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:234373200-234382800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:234373800-234384200	Weak transcription	Osteobl	bone
36	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:234375000-234381400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:234375200-234388000	Strong transcription	Lung	lung
39	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:234375600-234381600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:234375600-234387400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:234376000-234389400	Weak transcription	NH-A	brain
43	chr2:234376200-234382800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:234376200-234390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:234377800-234385600	Weak transcription	Aorta	Aorta
46	chr2:234377800-234391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
48	chr2:234378000-234384000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:234378000-234387000	Weak transcription	HSMM	muscle
50	chr2:234378200-234381600	Weak transcription	Esophagus	oesophagus

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