Variant report

Variant	rs36231004
Chromosome Location	chr2:173486618-173486619
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10197678	0.84[AMR][1000 genomes]
rs13385644	0.84[AMR][1000 genomes]
rs13386103	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv875415	chr2:173444462-173501069	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv875416	chr2:173444462-173504674	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv875417	chr2:173460803-173501069	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875418	chr2:173460803-173504674	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	esv3357213	chr2:173485406-173488804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription	lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173454400-173489000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:173454800-173488200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:173461400-173488800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:173461400-173504200	Weak transcription	NHEK	skin
5	chr2:173462200-173507400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:173462800-173488200	Weak transcription	HSMM	muscle
7	chr2:173463400-173489400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:173465600-173495200	Weak transcription	Ovary	ovary
9	chr2:173468000-173488000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:173471800-173495600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:173472400-173488800	Weak transcription	Fetal Thymus	thymus
12	chr2:173472600-173504600	Weak transcription	Adipose Nuclei	Adipose
13	chr2:173474400-173488600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:173474400-173489800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr2:173474600-173504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:173475400-173487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:173478200-173488200	Weak transcription	NHLF	lung
18	chr2:173478800-173496800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:173479400-173488000	Weak transcription	Primary T cells from cord blood	blood
20	chr2:173479400-173488000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:173479600-173488800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:173479600-173489600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:173479600-173490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:173479600-173495800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:173479600-173496200	Weak transcription	Thymus	Thymus
26	chr2:173479800-173494600	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:173479800-173496000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr2:173480000-173487800	Weak transcription	Dnd41	blood
29	chr2:173480000-173488000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:173480000-173488000	Weak transcription	Fetal Stomach	stomach
31	chr2:173480000-173488600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:173480000-173488800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:173480000-173492200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:173480000-173493800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:173480000-173494200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr2:173480000-173495000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:173480000-173495200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr2:173480000-173496000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:173480200-173495800	Weak transcription	GM12878-XiMat	blood
40	chr2:173480200-173499200	Weak transcription	HepG2	liver
41	chr2:173480600-173488000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:173485800-173497200	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:173486400-173488200	Weak transcription	K562	blood

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