Variant report

Variant	rs212705
Chromosome Location	chr2:32450508-32450509
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32449383..32452935-chr2:32453353..32456316,4	K562	blood:
2	chr2:32449383..32451061-chr2:32453847..32456316,2	K562	blood:
3	chr2:32435157..32437239-chr2:32449933..32452199,2	K562	blood:

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

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

rs_ID	r²[population]
rs177083	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs212694	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs212699	0.87[ASN][1000 genomes]
rs212700	0.87[ASN][1000 genomes]
rs212701	0.87[ASN][1000 genomes]
rs212704	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs212706	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212707	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212708	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs212713	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs212757	0.83[AMR][1000 genomes]
rs430759	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
4	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
5	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
6	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
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
3	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
5	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
6	chr2:32404400-32450800	Weak transcription	Gastric	stomach
7	chr2:32422000-32452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
9	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:32433800-32451600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:32435200-32451600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:32438800-32452400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:32442800-32452200	Strong transcription	Liver	Liver
14	chr2:32443000-32451600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:32443200-32451600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:32444400-32451600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:32444600-32451400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:32444600-32451400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:32444600-32452200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:32444800-32451600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:32444800-32451800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:32444800-32452600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:32444800-32452800	Weak transcription	Fetal Intestine Small	intestine
26	chr2:32445200-32452600	Strong transcription	Placenta	Placenta
27	chr2:32445800-32451000	Weak transcription	Fetal Stomach	stomach
28	chr2:32445800-32452200	Weak transcription	Fetal Heart	heart
29	chr2:32445800-32452400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:32445800-32461400	Weak transcription	Psoas Muscle	Psoas
31	chr2:32446000-32450600	Weak transcription	Hela-S3	cervix
32	chr2:32446200-32456400	Weak transcription	NHLF	lung
33	chr2:32447200-32451400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:32447200-32451600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:32447200-32451600	Strong transcription	Fetal Thymus	thymus
36	chr2:32447200-32452200	Strong transcription	Primary T cells from cord blood	blood
37	chr2:32447200-32452200	Strong transcription	Adipose Nuclei	Adipose
38	chr2:32447400-32451600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:32447400-32451600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:32447400-32451600	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:32447400-32451600	Strong transcription	HSMM	muscle
42	chr2:32447400-32452600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr2:32447600-32451200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:32447600-32451600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr2:32447600-32452600	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:32447800-32451400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:32448200-32450600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:32448200-32450800	Weak transcription	Aorta	Aorta
50	chr2:32448200-32451200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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