Variant report

Variant	rs73997611
Chromosome Location	chr2:234382884-234382885
allele	A/G
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	chr2:234365726..234368182-chr2:234381553..234383483,3	MCF-7	breast:
3	chr2:234377919..234380691-chr2:234381184..234384244,3	MCF-7	breast:
4	chr2:234382718..234385306-chr2:234606454..234608053,2	MCF-7	breast:
5	chr2:234382281..234385759-chr2:234386993..234388960,3	MCF-7	breast:
6	chr2:234381434..234384275-chr2:234387365..234389292,3	K562	blood:
7	chr2:234377166..234379474-chr2:234382800..234384518,2	K562	blood:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs4047262	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4281901	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4392254	1.00[AMR][1000 genomes]
rs4588184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55888324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56274731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306918	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58330864	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489211	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58583213	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58864422	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59543173	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61376069	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726032	1.00[AMR][1000 genomes]
rs6734355	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995909	1.00[AMR][1000 genomes]
rs73995911	1.00[AMR][1000 genomes]
rs73995918	1.00[AMR][1000 genomes]
rs73995919	1.00[AMR][1000 genomes]
rs73995920	1.00[AMR][1000 genomes]
rs73995921	1.00[AMR][1000 genomes]
rs73995922	1.00[AMR][1000 genomes]
rs73995923	1.00[AMR][1000 genomes]
rs73995944	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995945	0.88[AFR][1000 genomes]
rs73995946	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995947	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995949	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995970	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996001	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996105	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996118	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996119	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996120	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996121	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996124	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997606	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997608	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997630	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997631	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997633	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997637	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs745154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580191	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584192	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7593807	1.00[AMR][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	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
7	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
8	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
11	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:234373800-234384200	Weak transcription	Osteobl	bone
15	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:234375200-234388000	Strong transcription	Lung	lung
17	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:234375600-234387400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:234376000-234389400	Weak transcription	NH-A	brain
20	chr2:234376200-234390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:234377800-234385600	Weak transcription	Aorta	Aorta
22	chr2:234377800-234391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
24	chr2:234378000-234384000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:234378000-234387000	Weak transcription	HSMM	muscle
26	chr2:234378200-234395000	Weak transcription	Right Atrium	heart
27	chr2:234378400-234388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:234378400-234390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:234378400-234390800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:234378400-234391000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:234378600-234383000	Weak transcription	K562	blood
32	chr2:234378600-234383000	Weak transcription	NHLF	lung
33	chr2:234378600-234391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:234378800-234384200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:234378800-234384800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:234378800-234391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:234379000-234383400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:234379000-234386600	Weak transcription	HepG2	liver
39	chr2:234379000-234391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:234379200-234384200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:234379400-234383600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr2:234379400-234384400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:234379400-234384400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:234379400-234384400	Weak transcription	Fetal Brain Female	brain
45	chr2:234379400-234384400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:234379400-234384400	Weak transcription	NHEK	skin
47	chr2:234379400-234384600	Weak transcription	Brain Germinal Matrix	brain
48	chr2:234379400-234384600	Weak transcription	Fetal Lung	lung
49	chr2:234379400-234388400	Weak transcription	Stomach Mucosa	stomach
50	chr2:234379600-234386400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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