Variant report

Variant	rs16831021
Chromosome Location	chr2:153238858-153238859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153232621..153235253-chr2:153237551..153240252,2	K562	blood:
2	chr2:153233753..153235879-chr2:153237551..153240472,2	K562	blood:
3	chr2:153237750..153240255-chr2:153243184..153245369,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10194916	0.82[JPT][hapmap]
rs10931079	0.92[ASN][1000 genomes]
rs11687067	0.87[YRI][hapmap]
rs11696004	1.00[JPT][hapmap]
rs12151851	0.87[YRI][hapmap]
rs12476186	0.92[ASN][1000 genomes]
rs12693362	1.00[JPT][hapmap]
rs13010632	0.91[MEX][hapmap]
rs13388095	1.00[JPT][hapmap]
rs16831065	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16831082	0.92[ASN][1000 genomes]
rs16831093	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs16831100	0.86[ASN][1000 genomes]
rs16831118	1.00[JPT][hapmap]
rs17398773	0.87[YRI][hapmap]
rs2345811	0.82[JPT][hapmap]
rs2345874	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.92[ASN][1000 genomes]
rs2345894	0.82[JPT][hapmap]
rs2346203	0.82[JPT][hapmap];1.00[MEX][hapmap]
rs35662043	0.83[ASN][1000 genomes]
rs3811576	1.00[JPT][hapmap]
rs4254462	1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[LWK][hapmap];0.96[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes]
rs4442949	0.87[YRI][hapmap]
rs4664090	0.82[JPT][hapmap]
rs4664558	0.82[JPT][hapmap]
rs58219183	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6433983	0.87[YRI][hapmap]
rs66526317	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66663920	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6734534	0.87[YRI][hapmap]
rs6746538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs6751576	0.91[MEX][hapmap]
rs6757782	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6761178	1.00[CHB][hapmap];0.92[ASN][1000 genomes]
rs67689907	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67761838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73012774	0.92[ASN][1000 genomes]
rs73012784	0.92[ASN][1000 genomes]
rs7587450	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7601047	0.86[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	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	nsv1005012	chr2:153206764-153273886	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153206800-153240800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:153207600-153246400	Weak transcription	Fetal Intestine Small	intestine
3	chr2:153224800-153246000	Weak transcription	Fetal Stomach	stomach
4	chr2:153226200-153249400	Weak transcription	Right Ventricle	heart
5	chr2:153226200-153251800	Weak transcription	HSMMtube	muscle
6	chr2:153226800-153240000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:153227000-153242000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:153227800-153239400	Weak transcription	NHDF-Ad	bronchial
9	chr2:153229200-153252400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:153232600-153239400	Enhancers	Brain Substantia Nigra	brain
11	chr2:153233200-153240000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:153233200-153242200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:153233400-153249000	Weak transcription	Gastric	stomach
14	chr2:153233600-153239000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:153233600-153246200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:153233800-153245600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:153233800-153255400	Weak transcription	NHEK	skin
18	chr2:153234600-153239600	Enhancers	Brain Hippocampus Middle	brain
19	chr2:153235000-153239200	Enhancers	Brain Anterior Caudate	brain
20	chr2:153235000-153239600	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:153235400-153243200	Weak transcription	Stomach Mucosa	stomach
22	chr2:153236600-153239000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:153236800-153239000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:153236800-153239800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr2:153237000-153239200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:153237000-153239800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:153237200-153239200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:153237400-153239400	Weak transcription	NHLF	lung
29	chr2:153237400-153240200	Weak transcription	HepG2	liver
30	chr2:153237400-153240800	Weak transcription	Pancreas	Pancrea
31	chr2:153237400-153240800	Weak transcription	A549	lung
32	chr2:153237400-153246200	Weak transcription	Placenta	Placenta
33	chr2:153237400-153249000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:153237400-153255400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:153237400-153255400	Weak transcription	HMEC	breast
36	chr2:153237800-153239000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr2:153237800-153240800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:153237800-153241600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:153238000-153239000	Weak transcription	Right Atrium	heart
40	chr2:153238000-153241600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:153238200-153239200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr2:153238200-153240800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:153238200-153241600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:153238200-153241800	Weak transcription	Aorta	Aorta
45	chr2:153238400-153239000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:153238400-153239400	Weak transcription	Brain Angular Gyrus	brain
47	chr2:153238400-153240000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:153238400-153240600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:153238400-153242000	Weak transcription	Adipose Nuclei	Adipose
50	chr2:153238400-153242400	Weak transcription	Fetal Brain Female	brain

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