Variant report

Variant	rs212756
Chromosome Location	chr2:32424288-32424289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32421689..32424456-chr2:32502727..32505231,2	K562	blood:

Variant related genes	Relation type
ENSG00000119820	Chromatin interaction

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

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

rs_ID	r²[population]
rs177083	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs212694	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs212695	0.94[ASN][1000 genomes]
rs212698	0.94[ASN][1000 genomes]
rs212699	0.81[ASN][1000 genomes]
rs212701	0.81[ASN][1000 genomes]
rs212704	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212706	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212707	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212708	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212713	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs212752	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212757	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212758	0.97[ASN][1000 genomes]
rs212759	0.97[ASN][1000 genomes]
rs430759	0.81[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32391600-32426400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:32391600-32452800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:32391800-32431400	Weak transcription	Stomach Mucosa	stomach
4	chr2:32391800-32453800	Weak transcription	Colonic Mucosa	Colon
5	chr2:32392000-32435800	Weak transcription	NHLF	lung
6	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
13	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
15	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
16	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
17	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
18	chr2:32404400-32450800	Weak transcription	Gastric	stomach
19	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:32408000-32426000	Weak transcription	HSMMtube	muscle
22	chr2:32408000-32428000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
24	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
26	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:32412000-32426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
31	chr2:32412200-32444200	Weak transcription	Fetal Brain Female	brain
32	chr2:32412600-32426600	Weak transcription	Lung	lung
33	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
34	chr2:32413000-32426000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:32413200-32426000	Weak transcription	Hela-S3	cervix
36	chr2:32413200-32433600	Weak transcription	Fetal Lung	lung
37	chr2:32415200-32426000	Weak transcription	NHEK	skin
38	chr2:32415200-32445200	Weak transcription	HMEC	breast
39	chr2:32415600-32432400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:32416000-32427600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:32416400-32427600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:32416600-32428600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:32416800-32424400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr2:32416800-32428400	Strong transcription	Fetal Intestine Large	intestine
45	chr2:32417200-32425400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:32417200-32427400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:32417400-32427200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:32417400-32427600	Strong transcription	Liver	Liver
49	chr2:32417400-32431000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:32417800-32426200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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