Variant report

Variant	rs73997608
Chromosome Location	chr2:234382045-234382046
allele	A/C
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	chr2:234379094..234382048-chr2:234385373..234387118,2	K562	blood:
4	chr2:234377919..234380691-chr2:234381184..234384244,3	MCF-7	breast:
5	chr2:234378675..234382523-chr2:234390792..234394362,4	K562	blood:
6	chr2:234381434..234384275-chr2:234387365..234389292,3	K562	blood:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs4047262	1.00[AMR][1000 genomes]
rs4281901	1.00[AMR][1000 genomes]
rs4392254	1.00[AMR][1000 genomes]
rs4588184	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55888324	1.00[AMR][1000 genomes]
rs56274731	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56306918	1.00[AMR][1000 genomes]
rs56317380	1.00[AMR][1000 genomes]
rs57285092	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58330864	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58489211	1.00[AMR][1000 genomes]
rs58583213	1.00[AMR][1000 genomes]
rs58864422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59543173	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59954119	1.00[AMR][1000 genomes]
rs61376069	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6726032	1.00[AMR][1000 genomes]
rs6734355	0.86[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	1.00[AMR][1000 genomes]
rs73995946	1.00[AMR][1000 genomes]
rs73995947	1.00[AMR][1000 genomes]
rs73995948	1.00[AMR][1000 genomes]
rs73995949	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995950	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995970	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995972	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995973	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73995980	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996001	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73996107	1.00[AMR][1000 genomes]
rs73996118	1.00[AMR][1000 genomes]
rs73996119	1.00[AMR][1000 genomes]
rs73996120	1.00[AMR][1000 genomes]
rs73996121	1.00[AMR][1000 genomes]
rs73996124	1.00[AMR][1000 genomes]
rs73996138	1.00[AMR][1000 genomes]
rs73997606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997607	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997611	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997612	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997630	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997631	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997633	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73997638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs745154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580191	1.00[AMR][1000 genomes]
rs7584192	0.86[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	chr2:234344200-234382200	Strong transcription	Primary B cells from cord blood	blood
7	chr2:234344200-234382600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:234352600-234382600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:234352600-234382600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:234361200-234389800	Weak transcription	Fetal Kidney	kidney
11	chr2:234362400-234384600	Strong transcription	Spleen	Spleen
12	chr2:234363800-234390600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
15	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:234373200-234382800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:234373800-234384200	Weak transcription	Osteobl	bone
20	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:234375200-234388000	Strong transcription	Lung	lung
22	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:234375600-234387400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:234376000-234389400	Weak transcription	NH-A	brain
25	chr2:234376200-234382800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr2:234376200-234390200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:234377800-234385600	Weak transcription	Aorta	Aorta
28	chr2:234377800-234391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
30	chr2:234378000-234384000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:234378000-234387000	Weak transcription	HSMM	muscle
32	chr2:234378200-234395000	Weak transcription	Right Atrium	heart
33	chr2:234378400-234388000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:234378400-234390200	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:234378400-234390800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:234378400-234391000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr2:234378600-234383000	Weak transcription	K562	blood
38	chr2:234378600-234383000	Weak transcription	NHLF	lung
39	chr2:234378600-234391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:234378800-234384200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:234378800-234384800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:234378800-234391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:234379000-234383400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:234379000-234386600	Weak transcription	HepG2	liver
45	chr2:234379000-234391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:234379200-234382200	Weak transcription	Fetal Brain Male	brain
47	chr2:234379200-234382400	Strong transcription	Right Ventricle	heart
48	chr2:234379200-234382600	Strong transcription	A549	lung
49	chr2:234379200-234384200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:234379400-234382200	Strong transcription	Skeletal Muscle Male	skeletal muscle

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