Variant report

Variant	rs2716611
Chromosome Location	chr2:11958770-11958771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10495584	1.00[ASN][1000 genomes]
rs11524	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1370547	0.98[ASN][1000 genomes]
rs17604177	0.84[EUR][1000 genomes]
rs2577259	0.98[ASN][1000 genomes]
rs2716609	1.00[ASN][1000 genomes]
rs2716610	1.00[ASN][1000 genomes]
rs2716638	0.84[EUR][1000 genomes]
rs56658728	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57450916	1.00[ASN][1000 genomes]
rs59217232	0.94[ASN][1000 genomes]
rs59466442	0.98[ASN][1000 genomes]
rs73189040	0.89[ASN][1000 genomes]
rs73189043	0.90[ASN][1000 genomes]
rs73189045	0.94[ASN][1000 genomes]
rs73191082	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:11919400-11961800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:11919600-11968400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:11919800-11959200	Strong transcription	Liver	Liver
5	chr2:11919800-11960400	Weak transcription	Stomach Mucosa	stomach
6	chr2:11919800-11963200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:11919800-11967600	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:11919800-11968400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:11919800-11968800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:11925200-11964800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:11925200-11968600	Strong transcription	NHLF	lung
12	chr2:11925800-11968600	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr2:11932400-11959600	Weak transcription	Fetal Kidney	kidney
14	chr2:11937000-11968800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:11941200-11968600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:11942800-11960400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:11943000-11962800	Strong transcription	NHEK	skin
18	chr2:11944800-11965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:11946200-11969200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:11946600-11961800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:11948000-11961800	Weak transcription	GM12878-XiMat	blood
22	chr2:11948400-11960200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr2:11948600-11958800	Weak transcription	HSMM	muscle
24	chr2:11950200-11967200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:11950200-11968400	Strong transcription	Primary hematopoietic stem cells	blood
26	chr2:11951600-11962800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:11951600-11968600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:11951800-11964400	Weak transcription	Fetal Heart	heart
29	chr2:11955000-11961400	Strong transcription	NHDF-Ad	bronchial
30	chr2:11955400-11962200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:11955400-11965000	Strong transcription	HMEC	breast
32	chr2:11956000-11959200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:11956000-11961200	Weak transcription	Spleen	Spleen
34	chr2:11956200-11961800	Weak transcription	Pancreas	Pancrea
35	chr2:11956200-11962800	Weak transcription	Esophagus	oesophagus
36	chr2:11956200-11969400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:11956400-11959400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:11956400-11959600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:11956400-11959800	Weak transcription	Thymus	Thymus
40	chr2:11956400-11961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:11956600-11959400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:11956600-11959400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:11956600-11959400	Weak transcription	Psoas Muscle	Psoas
44	chr2:11956600-11959600	Weak transcription	Lung	lung
45	chr2:11956600-11959600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:11956600-11960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:11956600-11961200	Weak transcription	Right Ventricle	heart
48	chr2:11956600-11964600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:11956600-11964800	Weak transcription	Hela-S3	cervix
50	chr2:11956600-11966000	Weak transcription	A549	lung

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