Variant report

Variant	rs13390136
Chromosome Location	chr2:32173301-32173302
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr2:32173161-32173305	MCF10A-Er-Src	breast:	n/a	n/a
2	CTCF	chr2:32173200-32173350	Caco-2	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32167259..32169484-chr2:32172029..32173771,2	MCF-7	breast:

Variant related genes	Relation type
MEMO1	TF binding region
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153837	1.00[EUR][1000 genomes]
rs12328661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13385341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17011667	1.00[EUR][1000 genomes]
rs17011668	1.00[EUR][1000 genomes]
rs6543641	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv873777	chr2:32019747-32197123	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32086600-32174400	Weak transcription	NHLF	lung
2	chr2:32099600-32193000	Weak transcription	Hela-S3	cervix
3	chr2:32116800-32182200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:32117000-32205200	Weak transcription	NH-A	brain
5	chr2:32119200-32181400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:32127400-32190200	Weak transcription	Lung	lung
7	chr2:32132400-32183000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:32136600-32188800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:32137000-32189200	Weak transcription	Fetal Kidney	kidney
10	chr2:32139200-32173600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:32145000-32183000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:32145200-32173600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:32145200-32190800	Weak transcription	Pancreas	Pancrea
14	chr2:32146400-32183400	Weak transcription	Psoas Muscle	Psoas
15	chr2:32159200-32173600	Weak transcription	Right Ventricle	heart
16	chr2:32166800-32182400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:32167200-32183000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:32167200-32193200	Weak transcription	HSMM	muscle
19	chr2:32168000-32179400	Weak transcription	NHEK	skin
20	chr2:32168000-32180600	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr2:32168200-32183000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:32168200-32185000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:32168200-32189600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:32168200-32194400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr2:32168200-32197400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr2:32168400-32180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:32168400-32186200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:32168400-32186400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:32168400-32189400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:32168400-32193600	Weak transcription	Fetal Brain Female	brain
31	chr2:32168400-32194200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:32168400-32202000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:32168400-32205200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:32168400-32205800	Weak transcription	Fetal Lung	lung
35	chr2:32168400-32205800	Weak transcription	Thymus	Thymus
36	chr2:32168400-32212200	Weak transcription	Esophagus	oesophagus
37	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
38	chr2:32168600-32179000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:32168600-32180800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:32168600-32181200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:32168600-32181400	Weak transcription	Primary B cells from peripheral blood	blood
42	chr2:32168600-32187000	Weak transcription	Fetal Intestine Large	intestine
43	chr2:32168600-32187200	Weak transcription	Fetal Thymus	thymus
44	chr2:32168600-32193400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:32168800-32176200	Weak transcription	HepG2	liver
46	chr2:32168800-32182400	Weak transcription	Adipose Nuclei	Adipose
47	chr2:32168800-32182800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:32168800-32190000	Weak transcription	Dnd41	blood
49	chr2:32168800-32193200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:32169000-32181200	Weak transcription	Primary B cells from cord blood	blood

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