Variant report

Variant	rs529130377
Chromosome Location	chr5:127334357-127334358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:127332389..127335376-chr5:127338224..127340344,3	K562	blood:
2	chr5:127331855..127334905-chr5:127335179..127338321,4	K562	blood:
3	chr5:127333537..127335671-chr5:127340331..127342151,2	MCF-7	breast:
4	chr5:127333339..127335775-chr5:127336111..127338824,2	MCF-7	breast:
5	chr5:127332053..127334905-chr5:127335179..127338060,4	K562	blood:

Variant related genes	Relation type
ENSG00000245937	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599665	chr5:127327649-127336709	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv511301	chr5:127327649-127337086	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	esv1809050	chr5:127333955-127336825	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1821423	chr5:127333955-127336825	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1828666	chr5:127333955-127336825	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3371571	chr5:127334053-127338651	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 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	chr5:127324200-127334800	Weak transcription	K562	blood
5	chr5:127324200-127342800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127324400-127334400	Weak transcription	Gastric	stomach
7	chr5:127324400-127337400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:127324400-127337400	Weak transcription	HMEC	breast
9	chr5:127324400-127337600	Weak transcription	NHEK	skin
10	chr5:127324400-127354800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:127324400-127358400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:127326200-127334800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:127326400-127359400	Weak transcription	GM12878-XiMat	blood
14	chr5:127327800-127359400	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
16	chr5:127329400-127351600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:127329800-127334800	Weak transcription	A549	lung
18	chr5:127330200-127337400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:127330400-127337400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:127331600-127334400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:127331800-127335600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr5:127331800-127345000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:127332000-127335400	Enhancers	Stomach Mucosa	stomach
24	chr5:127332200-127335600	Enhancers	Fetal Intestine Large	intestine
25	chr5:127332200-127335800	Enhancers	Duodenum Mucosa	Duodenum
26	chr5:127332200-127335800	Enhancers	Fetal Intestine Small	intestine
27	chr5:127332400-127337400	Weak transcription	Primary B cells from cord blood	blood
28	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
29	chr5:127333200-127335800	Enhancers	Small Intestine	intestine
30	chr5:127333400-127335000	Strong transcription	Primary T cells from cord blood	blood
31	chr5:127333600-127334400	Weak transcription	Lung	lung
32	chr5:127333600-127334600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr5:127333600-127338200	Weak transcription	Ovary	ovary
34	chr5:127333600-127339400	Weak transcription	Right Ventricle	heart
35	chr5:127333600-127341600	Weak transcription	Psoas Muscle	Psoas
36	chr5:127333600-127354200	Weak transcription	Left Ventricle	heart
37	chr5:127333600-127358200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:127333600-127358400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
41	chr5:127333800-127334400	Weak transcription	Right Atrium	heart
42	chr5:127333800-127370800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr5:127334000-127335600	Weak transcription	Colon Smooth Muscle	Colon

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