Variant report

Variant	rs73913152
Chromosome Location	chr2:9785377-9785378
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:9774726..9777001-chr2:9783752..9786208,2	MCF-7	breast:
2	chr2:9784748..9786815-chr2:9788863..9790895,3	MCF-7	breast:
3	chr2:9770340..9772882-chr2:9783880..9785966,3	MCF-7	breast:
4	chr2:9613408..9615593-chr2:9784692..9787153,2	MCF-7	breast:
5	chr2:9776669..9780406-chr2:9782873..9785983,5	MCF-7	breast:
6	chr2:9782654..9789334-chr2:9794560..9799702,7	MCF-7	breast:
7	chr2:9781325..9786143-chr2:9786474..9789625,5	K562	blood:
8	chr2:9769023..9772880-chr2:9783334..9787114,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134330	Chromatin interaction
ENSG00000240687	Chromatin interaction
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10427360	0.89[ASN][1000 genomes]
rs10495569	0.99[ASN][1000 genomes]
rs12620485	0.89[ASN][1000 genomes]
rs1806668	0.95[ASN][1000 genomes]
rs1976902	0.84[ASN][1000 genomes]
rs2091210	0.86[ASN][1000 genomes]
rs3762535	0.88[ASN][1000 genomes]
rs4145375	0.89[ASN][1000 genomes]
rs4668626	0.88[ASN][1000 genomes]
rs4669402	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4669403	0.92[ASN][1000 genomes]
rs4669404	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56068986	0.89[ASN][1000 genomes]
rs6432026	0.88[ASN][1000 genomes]
rs6432027	0.97[ASN][1000 genomes]
rs6715748	0.89[ASN][1000 genomes]
rs6732745	0.83[ASN][1000 genomes]
rs73913149	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73913150	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7567578	0.89[ASN][1000 genomes]
rs884427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	70 gene(s)	inside rSNPs	diseases
2	nsv1011802	chr2:9766171-9808284	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv518363	chr2:9777229-9788315	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr2:9778800-9788400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:9779400-9786400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:9779600-9789400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:9780000-9786400	Weak transcription	HSMMtube	muscle
5	chr2:9780200-9786400	Weak transcription	Lung	lung
6	chr2:9780200-9786400	Weak transcription	HSMM	muscle
7	chr2:9780800-9788000	Weak transcription	Fetal Heart	heart
8	chr2:9781000-9785400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:9781000-9785400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:9781000-9786400	Weak transcription	Ovary	ovary
11	chr2:9783000-9786400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:9783000-9786600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:9783200-9786400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:9783200-9788400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:9783200-9789200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:9783800-9786400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:9783800-9786600	Enhancers	Pancreas	Pancrea
18	chr2:9784000-9786000	Enhancers	Fetal Intestine Large	intestine
19	chr2:9784000-9792400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:9784200-9785800	Enhancers	HMEC	breast
21	chr2:9784400-9785400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:9784400-9785400	Bivalent Enhancer	HepG2	liver
23	chr2:9784400-9785800	Enhancers	Fetal Intestine Small	intestine
24	chr2:9784600-9785600	Flanking Active TSS	NHEK	skin
25	chr2:9784600-9786600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:9784800-9785400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:9784800-9787000	Enhancers	Placenta	Placenta
28	chr2:9785000-9785400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:9785000-9785600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr2:9785000-9785800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:9785000-9785800	Enhancers	Stomach Mucosa	stomach
32	chr2:9785000-9786000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr2:9785000-9786600	Enhancers	Esophagus	oesophagus
34	chr2:9785200-9785800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:9785200-9785800	Enhancers	Fetal Lung	lung
36	chr2:9785200-9785800	Enhancers	Gastric	stomach

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