Variant report

Variant	rs73996589
Chromosome Location	chr2:235056726-235056727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16850508	0.87[AMR][1000 genomes]
rs16850525	1.00[AMR][1000 genomes]
rs55929709	0.92[AFR][1000 genomes]
rs57644671	0.85[AMR][1000 genomes]
rs61622207	0.94[AFR][1000 genomes]
rs73996596	0.96[AFR][1000 genomes];1.00[AMR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235053600-235056800	Enhancers	Fetal Kidney	kidney
2	chr2:235054400-235057600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:235055000-235057000	Enhancers	A549	lung
4	chr2:235055000-235057000	Enhancers	HMEC	breast
5	chr2:235055000-235057400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:235055000-235057800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:235055000-235057800	Enhancers	Fetal Thymus	thymus
8	chr2:235055000-235057800	Enhancers	NHEK	skin
9	chr2:235055000-235059000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr2:235055000-235059200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:235055000-235059400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:235055000-235059600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:235055200-235057000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:235055200-235057000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:235055200-235057000	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:235055200-235057200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:235055200-235057400	Enhancers	Fetal Intestine Large	intestine
18	chr2:235055200-235057400	Enhancers	Thymus	Thymus
19	chr2:235055200-235059000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:235055600-235056800	Weak transcription	Small Intestine	intestine
21	chr2:235055600-235057000	Enhancers	HUVEC	blood vessel
22	chr2:235055800-235057200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:235056000-235056800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:235056000-235056800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:235056000-235057000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr2:235056000-235057000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr2:235056000-235057600	Enhancers	Fetal Intestine Small	intestine
28	chr2:235056400-235056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:235056400-235057000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:235056600-235057000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr2:235056600-235057200	Flanking Active TSS	Dnd41	blood
32	chr2:235056600-235057600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:235056600-235057800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr2:235056600-235059000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr2:235056600-235059200	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr2:235056600-235059400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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