Variant report

Variant	rs1247656
Chromosome Location	chr4:74469521-74469522
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74469058..74470945-chr4:74472294..74475158,2	K562	blood:
2	chr4:74469445..74471294-chr4:74473658..74475625,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1569208	1.00[YRI][hapmap]
rs1729729	1.00[YRI][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74440200-74472600	Weak transcription	Gastric	stomach
2	chr4:74449000-74470200	Weak transcription	Primary T cells from cord blood	blood
3	chr4:74456400-74472200	Weak transcription	Colonic Mucosa	Colon
4	chr4:74463600-74470400	Enhancers	Fetal Intestine Large	intestine
5	chr4:74463800-74474200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:74464200-74476400	Enhancers	Stomach Mucosa	stomach
7	chr4:74464200-74477200	Enhancers	Fetal Intestine Small	intestine
8	chr4:74465000-74475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:74465400-74469600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:74465400-74483000	Weak transcription	Esophagus	oesophagus
11	chr4:74465600-74472200	Weak transcription	HMEC	breast
12	chr4:74465800-74471000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr4:74465800-74471800	Weak transcription	Small Intestine	intestine
14	chr4:74465800-74472600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:74465800-74473000	Weak transcription	NHEK	skin
16	chr4:74465800-74476000	Weak transcription	Placenta	Placenta
17	chr4:74466600-74472000	Genic enhancers	Fetal Thymus	thymus
18	chr4:74466800-74474600	Weak transcription	Fetal Kidney	kidney
19	chr4:74467000-74474400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:74467200-74469600	Weak transcription	Thymus	Thymus
21	chr4:74468800-74469600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:74468800-74470400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:74469000-74469800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:74469000-74469800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:74469000-74469800	Enhancers	Colon Smooth Muscle	Colon
26	chr4:74469000-74469800	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:74469000-74470000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:74469000-74470000	Enhancers	Primary hematopoietic stem cells	blood
29	chr4:74469000-74470000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:74469000-74470000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr4:74469000-74470000	Enhancers	Fetal Lung	lung
32	chr4:74469000-74470000	Enhancers	Dnd41	blood
33	chr4:74469000-74470000	Enhancers	HSMM	muscle
34	chr4:74469000-74470000	Enhancers	Osteobl	bone
35	chr4:74469000-74470200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:74469000-74470400	Enhancers	Primary B cells from peripheral blood	blood
37	chr4:74469000-74470400	Enhancers	GM12878-XiMat	blood
38	chr4:74469200-74469600	Weak transcription	Pancreas	Pancrea
39	chr4:74469200-74469800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:74469200-74470000	Enhancers	Stomach Smooth Muscle	stomach
41	chr4:74469200-74470200	Active TSS	A549	lung
42	chr4:74469200-74471200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:74469400-74469600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:74469400-74469600	Active TSS	Liver	Liver
45	chr4:74469400-74469600	Enhancers	HepG2	liver
46	chr4:74469400-74469800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr4:74469400-74469800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr4:74469400-74474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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