Variant report

Variant	rs212752
Chromosome Location	chr2:32419903-32419904
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32417565..32420186-chr2:32581197..32583774,2	MCF-7	breast:
2	chr2:32389104..32394341-chr2:32415587..32422183,9	K562	blood:
3	chr2:32389478..32392429-chr2:32419800..32422403,2	MCF-7	breast:
4	chr2:32419509..32422064-chr2:32580659..32583571,2	K562	blood:

Variant related genes	Relation type
ENSG00000272716	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000115760	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11124278	0.80[EUR][1000 genomes]
rs12465351	0.81[EUR][1000 genomes]
rs177083	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs212686	0.81[EUR][1000 genomes]
rs212687	0.81[EUR][1000 genomes]
rs212694	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs212695	0.94[ASN][1000 genomes]
rs212698	0.93[ASN][1000 genomes]
rs212704	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212706	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212707	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212708	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs212713	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs212738	0.81[EUR][1000 genomes]
rs212744	0.80[EUR][1000 genomes]
rs212748	0.81[EUR][1000 genomes]
rs212753	0.82[EUR][1000 genomes]
rs212756	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs212757	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212758	0.96[ASN][1000 genomes]
rs212759	0.97[ASN][1000 genomes]
rs212762	0.81[EUR][1000 genomes]
rs430759	0.81[ASN][1000 genomes]
rs6717209	0.81[EUR][1000 genomes]
rs7588883	0.81[EUR][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:119 , 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	chr2:32392200-32422800	Weak transcription	Fetal Brain Male	brain
7	chr2:32392200-32445200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:32392800-32447600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:32399200-32449600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:32403000-32452200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:32403800-32426200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr2:32404200-32445200	Weak transcription	Brain Angular Gyrus	brain
13	chr2:32404200-32447600	Weak transcription	Pancreas	Pancrea
14	chr2:32404200-32448000	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:32404200-32452400	Weak transcription	Right Ventricle	heart
16	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
17	chr2:32404400-32423800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
19	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
20	chr2:32404400-32450800	Weak transcription	Gastric	stomach
21	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:32405800-32420600	Weak transcription	Left Ventricle	heart
24	chr2:32405800-32423800	Weak transcription	Ovary	ovary
25	chr2:32407200-32421600	Weak transcription	Small Intestine	intestine
26	chr2:32408000-32424000	Weak transcription	Brain Anterior Caudate	brain
27	chr2:32408000-32426000	Weak transcription	HSMMtube	muscle
28	chr2:32408000-32428000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
30	chr2:32408400-32423800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:32409400-32421000	Strong transcription	HepG2	liver
32	chr2:32410200-32422400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
35	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:32411400-32422600	Weak transcription	NH-A	brain
37	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:32411600-32423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:32412000-32422000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:32412000-32426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
43	chr2:32412200-32420200	Weak transcription	Fetal Stomach	stomach
44	chr2:32412200-32444200	Weak transcription	Fetal Brain Female	brain
45	chr2:32412600-32420600	Weak transcription	Thymus	Thymus
46	chr2:32412600-32426600	Weak transcription	Lung	lung
47	chr2:32412800-32422200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
49	chr2:32413000-32420200	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:32413000-32422400	Weak transcription	Rectal Mucosa Donor 31	rectum

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