Variant report

Variant	rs2353353
Chromosome Location	chr7:138242627-138242628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138236458..138239025-chr7:138241233..138243076,2	K562	blood:
2	chr7:138212667..138215098-chr7:138241445..138243429,2	K562	blood:
3	chr7:138233250..138235909-chr7:138241361..138243581,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11761566	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs11976228	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11981542	1.00[CHB][hapmap]
rs12707388	0.80[EUR][1000 genomes]
rs4535683	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6467774	1.00[JPT][hapmap]
rs6467779	1.00[CHB][hapmap]
rs6946420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]
rs6947224	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6962037	0.81[EUR][1000 genomes]
rs7803989	0.80[EUR][1000 genomes]
rs7811152	0.81[CEU][hapmap];0.81[EUR][1000 genomes]

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	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:138228400-138252600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:138234600-138243600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr7:138235000-138248600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:138235000-138257400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:138235600-138245200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:138235800-138243800	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr7:138235800-138253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:138235800-138253200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr7:138236000-138254200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:138236800-138243400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr7:138236800-138250800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr7:138237000-138243200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr7:138237000-138251200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
15	chr7:138237000-138251600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:138237000-138252400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr7:138237200-138252600	ZNF genes & repeats	Dnd41	blood
18	chr7:138237400-138245200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
19	chr7:138237400-138251400	ZNF genes & repeats	Primary B cells from cord blood	blood
20	chr7:138237600-138244200	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
21	chr7:138238000-138245000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr7:138238000-138245600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:138238200-138244800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr7:138238200-138251200	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr7:138238400-138243000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
26	chr7:138238400-138243400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:138238400-138243600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:138238400-138243600	ZNF genes & repeats	Left Ventricle	heart
29	chr7:138238400-138243800	Strong transcription	Brain Anterior Caudate	brain
30	chr7:138238400-138244000	ZNF genes & repeats	Esophagus	oesophagus
31	chr7:138238400-138244200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:138238400-138244400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
33	chr7:138238400-138244600	ZNF genes & repeats	Aorta	Aorta
34	chr7:138238400-138244600	ZNF genes & repeats	Pancreas	Pancrea
35	chr7:138238400-138245600	ZNF genes & repeats	Spleen	Spleen
36	chr7:138238400-138250800	ZNF genes & repeats	Thymus	Thymus
37	chr7:138238400-138251400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:138238400-138251400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr7:138238400-138251400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
40	chr7:138238400-138253600	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr7:138238600-138242800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:138238600-138242800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr7:138238600-138243400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
44	chr7:138238600-138244200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
45	chr7:138238600-138244600	ZNF genes & repeats	Lung	lung
46	chr7:138238600-138251200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:138238600-138251600	ZNF genes & repeats	Brain Germinal Matrix	brain
48	chr7:138238600-138251800	ZNF genes & repeats	Fetal Muscle Leg	muscle
49	chr7:138238600-138252200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
50	chr7:138238800-138243400	ZNF genes & repeats	Ovary	ovary

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