Variant report

Variant	rs11694392
Chromosome Location	chr2:153280958-153280959
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153276442..153278166-chr2:153280321..153283147,2	K562	blood:
2	chr2:153279392..153282139-chr2:153288134..153290095,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11696004	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693362	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12999503	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13388095	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16831082	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16831093	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831100	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831118	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34006820	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34047327	0.81[EUR][1000 genomes]
rs35662043	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3811576	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66663920	0.83[ASN][1000 genomes]
rs6757782	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67689907	0.83[ASN][1000 genomes]
rs73012774	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73012784	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7587450	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7601047	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153264200-153288200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:153272600-153284800	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:153272600-153285400	Weak transcription	Gastric	stomach
4	chr2:153272800-153288200	Weak transcription	Right Atrium	heart
5	chr2:153275200-153282600	Weak transcription	Fetal Brain Male	brain
6	chr2:153276600-153282800	Weak transcription	Fetal Brain Female	brain
7	chr2:153278200-153287400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:153278400-153282400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:153278400-153283000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:153278400-153286000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:153278400-153289800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:153278600-153282200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:153278600-153282200	Weak transcription	Fetal Kidney	kidney
14	chr2:153278600-153282200	Weak transcription	HSMMtube	muscle
15	chr2:153278600-153284200	Weak transcription	Fetal Lung	lung
16	chr2:153278600-153288000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:153278800-153282400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:153278800-153282800	Weak transcription	Small Intestine	intestine
19	chr2:153278800-153288200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:153278800-153290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:153278800-153291200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:153279000-153282400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:153279000-153282600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:153279000-153282600	Weak transcription	Brain Anterior Caudate	brain
25	chr2:153279000-153282800	Weak transcription	Pancreas	Pancrea
26	chr2:153279000-153282800	Weak transcription	NHLF	lung
27	chr2:153279000-153284600	Weak transcription	Stomach Mucosa	stomach
28	chr2:153279000-153287400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:153279000-153287600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:153279200-153282200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:153279200-153282200	Weak transcription	NHDF-Ad	bronchial
32	chr2:153279200-153282600	Weak transcription	NH-A	brain
33	chr2:153279200-153282800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:153279200-153282800	Weak transcription	Osteobl	bone
35	chr2:153279200-153283000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:153279200-153288200	Weak transcription	Left Ventricle	heart
37	chr2:153279400-153282200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:153279400-153282400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:153279400-153282600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:153279400-153285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:153279400-153288200	Weak transcription	Placenta	Placenta
42	chr2:153279400-153288200	Weak transcription	Lung	lung
43	chr2:153279600-153281000	Enhancers	Brain Substantia Nigra	brain
44	chr2:153279600-153282400	Enhancers	HepG2	liver
45	chr2:153279800-153281000	Enhancers	Brain Hippocampus Middle	brain
46	chr2:153280000-153281200	Enhancers	Psoas Muscle	Psoas
47	chr2:153280000-153282400	Weak transcription	NHEK	skin
48	chr2:153280000-153305200	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:153280200-153283400	Weak transcription	HMEC	breast
50	chr2:153280200-153284400	Weak transcription	Hela-S3	cervix

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