Variant report

Variant	rs72976248
Chromosome Location	chr4:86849905-86849906
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10516765	0.85[AFR][1000 genomes]
rs72976242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72976245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv830000	chr4:86745341-86909059	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv879519	chr4:86786204-86871282	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86827600-86850600	Weak transcription	Spleen	Spleen
2	chr4:86831200-86851000	Weak transcription	Aorta	Aorta
3	chr4:86843000-86850600	Weak transcription	Psoas Muscle	Psoas
4	chr4:86843200-86850000	Weak transcription	HSMMtube	muscle
5	chr4:86843200-86852400	Weak transcription	Esophagus	oesophagus
6	chr4:86844400-86853800	Weak transcription	Gastric	stomach
7	chr4:86844800-86850600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:86845600-86850800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:86845800-86850000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:86846000-86850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:86846000-86850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:86846400-86851000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:86846600-86850000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:86847000-86850000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:86847000-86850000	Weak transcription	HSMM	muscle
16	chr4:86847000-86853200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr4:86847400-86850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:86847600-86850200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:86847600-86850400	Weak transcription	Fetal Heart	heart
20	chr4:86848000-86850200	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr4:86848000-86850600	Enhancers	Dnd41	blood
22	chr4:86848400-86851400	Enhancers	Primary B cells from peripheral blood	blood
23	chr4:86848600-86850600	Enhancers	HUVEC	blood vessel
24	chr4:86848600-86856000	Weak transcription	Primary B cells from cord blood	blood
25	chr4:86848800-86850600	Enhancers	Fetal Kidney	kidney
26	chr4:86848800-86851000	Enhancers	Stomach Mucosa	stomach
27	chr4:86849200-86850200	Enhancers	Pancreas	Pancrea
28	chr4:86849200-86850400	Enhancers	Liver	Liver
29	chr4:86849200-86850600	Enhancers	Duodenum Mucosa	Duodenum
30	chr4:86849200-86850600	Enhancers	Fetal Intestine Large	intestine
31	chr4:86849200-86850600	Enhancers	Fetal Intestine Small	intestine
32	chr4:86849200-86851000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:86849200-86851000	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr4:86849200-86851400	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:86849200-86851800	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:86849200-86851800	Enhancers	NHDF-Ad	bronchial
37	chr4:86849400-86850000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr4:86849400-86850000	Enhancers	A549	lung
39	chr4:86849400-86851000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr4:86849400-86851000	Weak transcription	Fetal Lung	lung
41	chr4:86849600-86850000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:86849600-86850800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr4:86849600-86851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:86849600-86852800	Enhancers	Fetal Thymus	thymus
45	chr4:86849800-86850000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr4:86849800-86850200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr4:86849800-86850600	Weak transcription	Left Ventricle	heart
48	chr4:86849800-86850600	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr4:86849800-86850800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:86849800-86850800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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