Variant report

Variant	rs530412050
Chromosome Location	chr4:79511658-79511659
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79509559..79512008-chr4:79512168..79514182,2	K562	blood:
2	chr4:79502435..79504816-chr4:79510543..79512063,3	K562	blood:
3	chr4:79510631..79512821-chr4:79838230..79840784,2	K562	blood:
4	chr4:79505629..79508109-chr4:79509982..79512936,2	K562	blood:
5	chr4:79497002..79499734-chr4:79510195..79513033,2	K562	blood:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv967949	chr4:79511515-79527707	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
3	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:79488400-79523600	Weak transcription	Esophagus	oesophagus
5	chr4:79488400-79527400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:79488600-79512200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:79489800-79513600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:79490000-79523400	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:79490600-79521000	Weak transcription	Fetal Heart	heart
10	chr4:79490800-79532600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:79491000-79512200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:79491000-79529600	Weak transcription	Aorta	Aorta
13	chr4:79491200-79535400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:79491600-79512000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:79491800-79533200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:79491800-79542600	Weak transcription	NH-A	brain
17	chr4:79492000-79531600	Strong transcription	HMEC	breast
18	chr4:79500000-79522200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr4:79501400-79516000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:79502200-79529200	Weak transcription	Colonic Mucosa	Colon
21	chr4:79502400-79525800	Weak transcription	Psoas Muscle	Psoas
22	chr4:79502400-79532200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:79503200-79521800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:79503800-79512000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:79505800-79517200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:79506200-79512000	Strong transcription	NHEK	skin
27	chr4:79506400-79517200	Weak transcription	Pancreas	Pancrea
28	chr4:79506400-79517200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:79506800-79523800	Weak transcription	Placenta	Placenta
30	chr4:79507000-79512400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:79507000-79512600	Weak transcription	NHLF	lung
32	chr4:79507000-79513000	Weak transcription	Stomach Mucosa	stomach
33	chr4:79507000-79513400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:79507000-79513400	Weak transcription	K562	blood
35	chr4:79507600-79521000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:79508200-79533600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:79508600-79523600	Weak transcription	Adipose Nuclei	Adipose
38	chr4:79508800-79525400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:79508800-79527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:79508800-79527400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr4:79509600-79515200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr4:79510000-79512200	Weak transcription	Gastric	stomach
43	chr4:79510000-79512200	Weak transcription	HUVEC	blood vessel
44	chr4:79510000-79517200	Weak transcription	Fetal Stomach	stomach
45	chr4:79510000-79518800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:79510000-79520600	Weak transcription	Lung	lung
47	chr4:79510200-79512200	Weak transcription	Fetal Intestine Small	intestine
48	chr4:79510200-79512400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:79510400-79513600	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr4:79510600-79513600	Weak transcription	Placenta Amnion	Placenta Amnion

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