Variant report

Variant	rs4596919
Chromosome Location	chr1:161304042-161304043
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16832808	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16832810	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4308999	1.00[ASN][1000 genomes]
rs4345822	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4986941	1.00[AMR][1000 genomes]
rs61734585	0.90[ASN][1000 genomes]
rs7413615	0.90[ASN][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	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv3417674	chr1:161298229-161310433	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161285200-161321400	Weak transcription	Stomach Mucosa	stomach
2	chr1:161285400-161310200	Weak transcription	HUVEC	blood vessel
3	chr1:161285400-161321400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:161286800-161337400	Weak transcription	Fetal Heart	heart
5	chr1:161287000-161337400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:161289600-161317200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:161293200-161304600	Strong transcription	Fetal Intestine Small	intestine
8	chr1:161293200-161306600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:161293200-161307800	Strong transcription	Primary B cells from peripheral blood	blood
10	chr1:161293200-161315200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:161293200-161317000	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:161293200-161317400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:161293400-161307400	Strong transcription	Fetal Stomach	stomach
14	chr1:161293400-161307800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr1:161293400-161315000	Strong transcription	Fetal Intestine Large	intestine
16	chr1:161293600-161304400	Strong transcription	Lung	lung
17	chr1:161293600-161307400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:161293800-161304600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:161293800-161304600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:161293800-161304600	Strong transcription	Ovary	ovary
21	chr1:161293800-161304800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:161293800-161304800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:161293800-161305000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:161293800-161305000	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:161293800-161305800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr1:161293800-161306000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:161293800-161306000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:161293800-161306000	Strong transcription	Adipose Nuclei	Adipose
29	chr1:161293800-161306600	Strong transcription	Fetal Lung	lung
30	chr1:161293800-161306800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:161293800-161307200	Strong transcription	Left Ventricle	heart
32	chr1:161293800-161307200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:161293800-161307600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:161293800-161307600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr1:161293800-161307600	Strong transcription	Fetal Thymus	thymus
36	chr1:161293800-161307800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:161293800-161308000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:161293800-161309600	Strong transcription	Dnd41	blood
39	chr1:161293800-161313400	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:161293800-161313400	Strong transcription	Placenta	Placenta
41	chr1:161293800-161313400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:161293800-161313600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:161293800-161313600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:161293800-161317800	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr1:161293800-161317800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:161294000-161317000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:161294000-161317200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:161294200-161308000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:161294200-161318200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr1:161294200-161337400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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