Variant report

Variant	rs17074040
Chromosome Location	chr13:30496669-30496670
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30496337..30498664-chr6:26123575..26125211,2	MCF-7	breast:
2	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
3	chr13:30168413..30170796-chr13:30494094..30496714,3	MCF-7	breast:
4	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
5	chr13:30487024..30489829-chr13:30495820..30498491,2	K562	blood:
6	chr13:30420962..30426189-chr13:30489163..30500098,34	MCF-7	breast:
7	chr13:30494996..30500904-chr13:30681667..30688775,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139514	Chromatin interaction
ENSG00000224511	Chromatin interaction
ENSG00000122042	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000180573	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11618111	1.00[JPT][hapmap]
rs11843877	0.85[JPT][hapmap]
rs17074015	0.85[JPT][hapmap]
rs17631508	1.00[EUR][1000 genomes]
rs2031491	0.85[JPT][hapmap]
rs2039948	0.85[JPT][hapmap]
rs2039951	0.85[JPT][hapmap]
rs55899549	0.97[EUR][1000 genomes]
rs912790	0.85[JPT][hapmap]
rs912792	0.85[JPT][hapmap]
rs9314988	0.85[JPT][hapmap]
rs9508589	0.85[JPT][hapmap]

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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
2	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr13:30492400-30497400	Enhancers	Hela-S3	cervix
4	chr13:30492400-30500600	Enhancers	HMEC	breast
5	chr13:30492600-30497400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:30492800-30497400	Enhancers	HepG2	liver
7	chr13:30493000-30496800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:30493000-30497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr13:30493200-30497600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr13:30493600-30496800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:30493600-30498600	Weak transcription	Gastric	stomach
12	chr13:30493800-30496800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:30494200-30497200	Enhancers	A549	lung
14	chr13:30494200-30501400	Enhancers	Stomach Mucosa	stomach
15	chr13:30494400-30496800	Weak transcription	Esophagus	oesophagus
16	chr13:30494400-30497200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:30494400-30497400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr13:30494400-30497600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr13:30494400-30497600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr13:30494800-30496800	Weak transcription	Fetal Intestine Small	intestine
21	chr13:30495200-30497000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr13:30495400-30496800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr13:30495400-30496800	Weak transcription	Psoas Muscle	Psoas
24	chr13:30495400-30497000	Weak transcription	Fetal Intestine Large	intestine
25	chr13:30495400-30497200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr13:30495600-30496800	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr13:30495600-30497600	Enhancers	HSMM	muscle
28	chr13:30495600-30500400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:30496000-30500000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:30496000-30500200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:30496200-30497600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:30496200-30497800	Enhancers	HSMMtube	muscle
33	chr13:30496400-30496800	Enhancers	NH-A	brain
34	chr13:30496400-30497000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr13:30496400-30497600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:30496400-30497800	Enhancers	NHEK	skin
37	chr13:30496400-30498000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:30496400-30499600	Enhancers	Pancreas	Pancrea
39	chr13:30496400-30499800	Enhancers	Right Ventricle	heart
40	chr13:30496400-30500000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr13:30496400-30500200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:30496400-30500200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:30496400-30500200	Enhancers	Fetal Muscle Leg	muscle
44	chr13:30496400-30500200	Enhancers	NHLF	lung
45	chr13:30496400-30500400	Enhancers	Placenta	Placenta
46	chr13:30496400-30500600	Enhancers	NHDF-Ad	bronchial
47	chr13:30496600-30498200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr13:30496600-30499000	Flanking Active TSS	Osteobl	bone
49	chr13:30496600-30499800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:30496600-30500000	Enhancers	Fetal Stomach	stomach

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