Variant report

Variant	rs6738072
Chromosome Location	chr2:9844718-9844719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9770293..9771816-chr2:9842441..9845171,2	K562	blood:
2	chr2:9842350..9846952-chr2:9858838..9862900,5	K562	blood:
3	chr2:9843482..9849818-chr2:9850036..9855209,6	K562	blood:
4	chr2:9830401..9832024-chr2:9844409..9846965,2	K562	blood:
5	chr2:9843332..9845543-chr2:9887968..9890552,2	K562	blood:
6	chr2:9694686..9696238-chr2:9843890..9846874,2	MCF-7	breast:
7	chr2:9769874..9772377-chr2:9843721..9845301,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction
ENSG00000271855	Chromatin interaction
ENSG00000151694	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11674642	0.96[ASN][1000 genomes]
rs11680429	0.94[ASN][1000 genomes]
rs12466594	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2357263	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668636	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4669427	0.82[EUR][1000 genomes]
rs6735280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7578933	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7602784	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7605675	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469405	chr2:9814374-9964947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv580930	chr2:9814374-9964947	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9837000-9849600	Weak transcription	Pancreas	Pancrea
2	chr2:9842200-9845400	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr2:9842400-9845200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:9842400-9845400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:9842400-9845600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:9842800-9845000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:9842800-9845000	Enhancers	Spleen	Spleen
8	chr2:9843000-9845000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:9843200-9845200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:9843400-9845000	Enhancers	Fetal Intestine Large	intestine
11	chr2:9843600-9845400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:9843800-9846600	Weak transcription	Fetal Brain Female	brain
13	chr2:9843800-9852000	Weak transcription	Left Ventricle	heart
14	chr2:9844000-9844800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:9844000-9845000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:9844000-9845000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:9844000-9845400	Enhancers	HepG2	liver
18	chr2:9844000-9846800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:9844000-9847200	Weak transcription	Fetal Heart	heart
20	chr2:9844000-9847200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:9844200-9845200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:9844200-9845400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:9844200-9845600	Weak transcription	Right Ventricle	heart
24	chr2:9844200-9847400	Weak transcription	Gastric	stomach
25	chr2:9844200-9852000	Weak transcription	Esophagus	oesophagus
26	chr2:9844400-9845000	Enhancers	K562	blood
27	chr2:9844400-9845200	Enhancers	Hela-S3	cervix
28	chr2:9844400-9845400	Enhancers	A549	lung
29	chr2:9844400-9848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:9844400-9848800	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:9844400-9848800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:9844400-9849000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:9844400-9849600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:9844400-9849600	Weak transcription	HMEC	breast
35	chr2:9844600-9845000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:9844600-9849000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:9844600-9849800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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