Variant report

Variant	rs4972369
Chromosome Location	chr2:149287440-149287441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:149281538..149284330-chr2:149286609..149289120,3	K562	blood:
2	chr2:149287117..149288965-chr2:149289361..149291496,2	K562	blood:
3	chr2:149286910..149287910-chrX:103028804..103029356,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123560	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1020468	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1031290	0.85[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs10454124	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10928399	0.90[EUR][1000 genomes]
rs10928404	0.86[AMR][1000 genomes]
rs10928407	0.85[AMR][1000 genomes]
rs12468186	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12472155	0.83[EUR][1000 genomes]
rs12616115	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12619201	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12997473	0.80[ASN][1000 genomes]
rs12997838	0.87[ASN][1000 genomes]
rs13003132	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13004738	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13008203	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs13010027	0.83[AMR][1000 genomes]
rs13029692	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16828791	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16828816	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16828836	0.86[AMR][1000 genomes]
rs16828954	0.83[AMR][1000 genomes]
rs16828967	0.80[AMR][1000 genomes]
rs16829006	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16829034	0.80[AMR][1000 genomes]
rs1809051	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2382231	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34324924	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34881950	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35057193	0.83[AMR][1000 genomes]
rs35076661	0.83[AMR][1000 genomes]
rs35154707	0.86[AMR][1000 genomes]
rs36067597	0.86[AMR][1000 genomes]
rs4972285	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972375	0.80[AMR][1000 genomes]
rs4972380	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972381	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972383	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6430323	0.84[AMR][1000 genomes]
rs6709767	0.83[AMR][1000 genomes]
rs6743835	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6746352	0.90[CHB][hapmap]
rs6756002	0.89[ASN][1000 genomes]
rs6761549	0.86[CEU][hapmap];0.91[CHB][hapmap]
rs71413623	0.83[AMR][1000 genomes]
rs720844	0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7571333	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7578059	0.86[AMR][1000 genomes]
rs7590549	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7597133	0.84[AMR][1000 genomes]
rs7599758	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7606475	0.80[AMR][1000 genomes]
rs764386	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs930651	0.84[AMR][1000 genomes]
rs930652	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3426219	chr2:149286782-149290980	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149267400-149288400	Weak transcription	Fetal Brain Female	brain
3	chr2:149267400-149288800	Weak transcription	Right Ventricle	heart
4	chr2:149270600-149288400	Weak transcription	Fetal Heart	heart
5	chr2:149272400-149288800	Weak transcription	Left Ventricle	heart
6	chr2:149272600-149287600	Weak transcription	Pancreas	Pancrea
7	chr2:149281000-149288000	Enhancers	Fetal Thymus	thymus
8	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:149283000-149288800	Weak transcription	Right Atrium	heart
11	chr2:149284400-149290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:149286000-149289000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:149286200-149289800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:149286200-149295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:149286400-149287800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:149286400-149288600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr2:149286400-149288800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:149286400-149289000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:149286400-149289000	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:149286400-149289600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr2:149286400-149290800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:149286600-149287800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:149286600-149289200	Enhancers	Primary T cells from cord blood	blood
24	chr2:149286800-149288800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:149286800-149288800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr2:149286800-149289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:149287200-149288400	Bivalent Enhancer	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links