Variant report

Variant	rs72982316
Chromosome Location	chr2:234416719-234416720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234416542..234418917-chr2:234598476..234600704,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10929178	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11675858	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11676524	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11686188	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3796090	0.86[EUR][1000 genomes]
rs3796092	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4047189	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6704644	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746234	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72980395	0.88[EUR][1000 genomes]
rs72980402	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72982309	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72982325	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
3	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
4	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
5	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
6	chr2:234398600-234431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:234400400-234430000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:234401200-234430800	Weak transcription	NHLF	lung
9	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
10	chr2:234402600-234429800	Weak transcription	Right Ventricle	heart
11	chr2:234402600-234430600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:234402600-234436800	Weak transcription	Gastric	stomach
13	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
15	chr2:234405000-234431200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr2:234407600-234419600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:234407800-234431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:234407800-234436800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:234410400-234428000	Weak transcription	NHDF-Ad	bronchial
20	chr2:234410600-234427200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:234410600-234428200	Weak transcription	Osteobl	bone
22	chr2:234410800-234429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:234411400-234419600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:234411400-234430000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:234411400-234430000	Weak transcription	Aorta	Aorta
26	chr2:234411400-234432400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:234411600-234418600	Weak transcription	Ovary	ovary
28	chr2:234411600-234421800	Weak transcription	Left Ventricle	heart
29	chr2:234411600-234422600	Weak transcription	Brain Angular Gyrus	brain
30	chr2:234411600-234427400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:234411600-234427400	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:234411600-234427600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:234411600-234429800	Weak transcription	Pancreas	Pancrea
34	chr2:234411600-234431800	Weak transcription	Lung	lung
35	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
36	chr2:234412200-234425000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:234412400-234437600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:234412600-234417400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:234412600-234420000	Strong transcription	Liver	Liver
40	chr2:234412600-234421800	Weak transcription	HSMMtube	muscle
41	chr2:234412600-234422600	Weak transcription	HMEC	breast
42	chr2:234412600-234437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:234412800-234418200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:234412800-234427400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:234413000-234422000	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:234413000-234427400	Weak transcription	Brain Substantia Nigra	brain
47	chr2:234413000-234427400	Weak transcription	HepG2	liver
48	chr2:234413000-234427600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr2:234413000-234431000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart

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