Variant report

Variant	rs184044016
Chromosome Location	chr5:127337811-127337812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
2	chr5:127330309..127331833-chr5:127336258..127338063,2	K562	blood:
3	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:
4	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:

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

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv3371571	chr5:127334053-127338651	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv3504406	chr5:127334853-127338201	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	esv3356352	chr5:127335078-127338226	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3504404	chr5:127335328-127338051	Enhancers Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv599667	chr5:127336033-127347056	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv599668	chr5:127336033-127347815	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv599669	chr5:127336280-127348710	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	1 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	chr5:127297800-127358400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:127323800-127338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:127324000-127350400	Weak transcription	HSMMtube	muscle
4	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
8	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
10	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
13	chr5:127333600-127338200	Weak transcription	Ovary	ovary
14	chr5:127333600-127339400	Weak transcription	Right Ventricle	heart
15	chr5:127333600-127341600	Weak transcription	Psoas Muscle	Psoas
16	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
17	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
21	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:127334600-127394000	Weak transcription	Lung	lung
23	chr5:127335000-127355800	Weak transcription	Primary T cells from cord blood	blood
24	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
25	chr5:127335800-127349400	Weak transcription	Fetal Intestine Small	intestine
26	chr5:127336000-127338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr5:127336000-127343200	Weak transcription	A549	lung
28	chr5:127336800-127375000	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:127337400-127338400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:127337400-127338600	Enhancers	HMEC	breast
31	chr5:127337400-127339000	Strong transcription	Primary B cells from cord blood	blood
32	chr5:127337400-127339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:127337400-127339000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:127337400-127339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:127337600-127338600	Enhancers	NHEK	skin
36	chr5:127337800-127338200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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