Variant report

Variant	rs12632068
Chromosome Location	chr3:69141310-69141311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69135075..69137300-chr3:69139396..69142710,3	MCF-7	breast:
2	chr3:69141293..69144065-chr9:131939062..131941860,2	MCF-7	breast:
3	chr3:69133113..69136938-chr3:69139161..69143786,5	K562	blood:
4	chr3:69138840..69141310-chr3:69150694..69152337,2	MCF-7	breast:
5	chr3:69127883..69130240-chr3:69139451..69142442,2	MCF-7	breast:
6	chr3:69140755..69142377-chr3:69144139..69146957,2	K562	blood:

Variant related genes	Relation type
ENSG00000188483	Chromatin interaction
ENSG00000144744	Chromatin interaction
ENSG00000144746	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12630479	0.85[ASN][1000 genomes]
rs12632476	0.88[ASN][1000 genomes]
rs1866263	1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs36099229	1.00[AFR][1000 genomes]
rs3772977	1.00[CEU][hapmap]
rs62254241	1.00[AFR][1000 genomes]
rs62255470	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62255472	0.82[EUR][1000 genomes]
rs62256141	0.90[EUR][1000 genomes]
rs7631719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9812253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs9855731	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69135200-69155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:69135800-69141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:69135800-69155800	Weak transcription	Fetal Kidney	kidney
4	chr3:69136000-69142400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr3:69136000-69143800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:69136200-69141400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr3:69136600-69147000	Enhancers	Colon Smooth Muscle	Colon
8	chr3:69136800-69143200	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:69136800-69156400	Weak transcription	Fetal Brain Male	brain
10	chr3:69137200-69143000	Enhancers	Placenta	Placenta
11	chr3:69137200-69145200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr3:69137600-69141600	Enhancers	HMEC	breast
13	chr3:69137600-69145200	Genic enhancers	HSMM	muscle
14	chr3:69137800-69143200	Enhancers	Brain Angular Gyrus	brain
15	chr3:69138000-69141400	Weak transcription	Brain Germinal Matrix	brain
16	chr3:69138000-69141400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr3:69138000-69141400	Enhancers	Stomach Smooth Muscle	stomach
18	chr3:69138200-69143200	Enhancers	Brain Cingulate Gyrus	brain
19	chr3:69138200-69143200	Weak transcription	Ovary	ovary
20	chr3:69138600-69145600	Enhancers	Stomach Mucosa	stomach
21	chr3:69139200-69141800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:69139200-69143000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:69139400-69141400	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:69139400-69141600	Enhancers	Right Ventricle	heart
25	chr3:69139400-69141800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:69139400-69143200	Weak transcription	Colonic Mucosa	Colon
27	chr3:69139400-69143200	Genic enhancers	NHLF	lung
28	chr3:69139600-69141400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr3:69139600-69141800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:69139600-69142800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:69139800-69141400	Genic enhancers	Left Ventricle	heart
32	chr3:69139800-69141800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:69139800-69141800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:69139800-69141800	Enhancers	Pancreas	Pancrea
35	chr3:69139800-69141800	Enhancers	Right Atrium	heart
36	chr3:69139800-69141800	Enhancers	Spleen	Spleen
37	chr3:69139800-69141800	Enhancers	K562	blood
38	chr3:69139800-69141800	Enhancers	NHEK	skin
39	chr3:69139800-69142400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr3:69139800-69143000	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr3:69139800-69143600	Enhancers	Aorta	Aorta
42	chr3:69139800-69145600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:69139800-69154600	Weak transcription	A549	lung
44	chr3:69140000-69141400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:69140000-69143000	Weak transcription	Gastric	stomach
46	chr3:69140000-69143200	Enhancers	Adipose Nuclei	Adipose
47	chr3:69140000-69143400	Weak transcription	Hela-S3	cervix
48	chr3:69140000-69144200	Genic enhancers	Fetal Intestine Small	intestine
49	chr3:69140000-69147000	Enhancers	Fetal Heart	heart
50	chr3:69140200-69141800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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