Variant report

Variant	rs62134020
Chromosome Location	chr2:32407688-32407689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32395858..32398697-chr2:32406981..32409057,2	K562	blood:
2	chr2:32404294..32406231-chr2:32406780..32408474,2	K562	blood:
3	chr2:32405594..32407741-chr2:32408500..32410420,2	K562	blood:
4	chr2:32401110..32403653-chr2:32405850..32408293,2	K562	blood:
5	chr2:32401411..32403653-chr2:32405930..32408293,2	K562	blood:
6	chr2:32391365..32393354-chr2:32406873..32408474,2	K562	blood:
7	chr2:32397197..32398862-chr2:32406291..32408481,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10169478	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10189895	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10199511	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13423310	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13429391	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17011863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366737	0.89[EUR][1000 genomes]
rs28408351	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28434610	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28713298	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34010719	1.00[ASN][1000 genomes]
rs396146	1.00[ASN][1000 genomes]
rs62134028	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589416	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers 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	25 gene(s)	inside rSNPs	diseases
3	nsv873778	chr2:32297984-32409007	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases
4	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking 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 target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32409600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32391800-32409600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
6	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
7	chr2:32392000-32414600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:32392000-32435800	Weak transcription	NHLF	lung
9	chr2:32392200-32411600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
11	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:32392800-32410000	Weak transcription	Hela-S3	cervix
13	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:32393000-32412400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:32396000-32414000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:32396200-32413600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:32397200-32408000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr2:32398400-32409400	Weak transcription	NHEK	skin
19	chr2:32398400-32412400	Strong transcription	Fetal Intestine Small	intestine
20	chr2:32398800-32410000	Weak transcription	K562	blood
21	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:32400800-32418800	Weak transcription	NHDF-Ad	bronchial
23	chr2:32401800-32408000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:32401800-32412200	Strong transcription	Fetal Stomach	stomach
25	chr2:32402800-32410400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:32403000-32411200	Weak transcription	Brain Germinal Matrix	brain
27	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:32403800-32410200	Weak transcription	Fetal Lung	lung
29	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:32404000-32411000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:32404200-32409600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:32404200-32410200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:32404200-32410800	Weak transcription	Spleen	Spleen
34	chr2:32404200-32411000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:32404200-32411000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:32404200-32412400	Weak transcription	Osteobl	bone
37	chr2:32404200-32413800	Weak transcription	GM12878-XiMat	blood
38	chr2:32404200-32417600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
40	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
41	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
43	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
44	chr2:32404400-32409400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:32404400-32410000	Weak transcription	Fetal Kidney	kidney
46	chr2:32404400-32411200	Weak transcription	Lung	lung
47	chr2:32404400-32412000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:32404400-32413000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:32404400-32414200	Weak transcription	HMEC	breast
50	chr2:32404400-32416800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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