Variant report

Variant	rs35560333
Chromosome Location	chr2:32423330-32423331
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	chr2:32421283..32424261-chr2:32426990..32429162,2	MCF-7	breast:
2	chr2:32421689..32424456-chr2:32502727..32505231,2	K562	blood:

Variant related genes	Relation type
ENSG00000119820	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11887458	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895183	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11895623	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006302	0.81[EUR][1000 genomes]
rs13029716	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35245684	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35653492	0.83[EUR][1000 genomes]
rs3851309	0.91[ASN][1000 genomes]
rs58980266	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60386495	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60906113	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6543653	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6719805	0.89[ASN][1000 genomes]
rs6726255	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6757121	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71446044	0.81[EUR][1000 genomes]
rs71446045	0.81[EUR][1000 genomes]
rs71446055	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71446056	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72493393	0.84[ASN][1000 genomes]
rs72863973	0.89[ASN][1000 genomes]
rs72863977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7580118	0.98[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	chr2:32404400-32423800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:32404400-32427800	Weak transcription	Aorta	Aorta
18	chr2:32404400-32447400	Weak transcription	HUVEC	blood vessel
19	chr2:32404400-32450800	Weak transcription	Gastric	stomach
20	chr2:32404800-32434000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:32404800-32447800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:32405800-32423800	Weak transcription	Ovary	ovary
23	chr2:32408000-32424000	Weak transcription	Brain Anterior Caudate	brain
24	chr2:32408000-32426000	Weak transcription	HSMMtube	muscle
25	chr2:32408000-32428000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:32408000-32435800	Weak transcription	Psoas Muscle	Psoas
27	chr2:32408400-32423800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:32410400-32436000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:32410400-32445200	Weak transcription	Fetal Kidney	kidney
30	chr2:32410600-32445200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:32411400-32445400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr2:32411600-32423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:32411600-32447800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:32412000-32426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:32412000-32450400	Weak transcription	Spleen	Spleen
36	chr2:32412200-32444200	Weak transcription	Fetal Brain Female	brain
37	chr2:32412600-32426600	Weak transcription	Lung	lung
38	chr2:32412800-32445200	Weak transcription	Brain Substantia Nigra	brain
39	chr2:32413000-32426000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:32413200-32426000	Weak transcription	Hela-S3	cervix
41	chr2:32413200-32433600	Weak transcription	Fetal Lung	lung
42	chr2:32415200-32426000	Weak transcription	NHEK	skin
43	chr2:32415200-32445200	Weak transcription	HMEC	breast
44	chr2:32415600-32432400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:32416000-32427600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:32416400-32427600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:32416600-32428600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr2:32416800-32424000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:32416800-32424400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:32416800-32428400	Strong transcription	Fetal Intestine Large	intestine

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