Variant report

Variant	rs2882036
Chromosome Location	chr2:20790006-20790007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:20788236-20791253	HepG2	liver:	n/a	n/a
2	HEY1	chr2:20788217-20791446	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:20789823-20791179	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:20789911-20790294	IMR90	lung:	n/a	n/a
5	POLR2A	chr2:20789971-20791121	HepG2	liver:	n/a	n/a
6	POLR2A	chr2:20788190-20791944	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:20789838-20790058	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20644797..20655251-chr2:20787626..20802274,53	MCF-7	breast:
2	chr2:20788464..20790757-chr2:20791500..20793980,2	MCF-7	breast:
3	chr2:20787740..20790180-chr2:20814969..20816900,2	K562	blood:
4	chr2:20786032..20787852-chr2:20789540..20791867,2	K562	blood:
5	chr2:20778568..20780393-chr2:20788647..20790853,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269976	TF binding region
ENSG00000231948	Chromatin interaction
ENSG00000269976	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000143878	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10166792	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10177787	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10190705	0.91[ASN][1000 genomes]
rs10195324	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10195722	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10200207	0.90[ASN][1000 genomes]
rs11096676	0.81[ASN][1000 genomes]
rs11096677	0.95[ASN][1000 genomes]
rs1123781	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11691255	0.91[ASN][1000 genomes]
rs11897611	0.85[ASN][1000 genomes]
rs12472478	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12621527	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13422371	0.91[ASN][1000 genomes]
rs16987857	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987878	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs16987880	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16987884	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs2882035	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4666315	0.89[CEU][hapmap];0.95[ASN][1000 genomes]
rs4666426	0.81[ASN][1000 genomes]
rs4666427	0.81[ASN][1000 genomes]
rs4666429	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4666430	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4666431	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs55835545	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56129345	0.89[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs59169527	0.88[ASN][1000 genomes]
rs72782365	0.98[ASN][1000 genomes]
rs72782367	0.91[ASN][1000 genomes]
rs72782368	0.92[ASN][1000 genomes]
rs766474	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs921599	0.82[JPT][hapmap]
rs921601	0.92[ASN][1000 genomes]
rs921602	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv833548	chr2:20682073-20864078	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1012037	chr2:20770850-20824893	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active 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	13 gene(s)	inside rSNPs	diseases
4	nsv535598	chr2:20770850-20824893	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20784600-20794200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:20785000-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:20785600-20790200	Weak transcription	Fetal Intestine Large	intestine
4	chr2:20785800-20790200	Weak transcription	Fetal Heart	heart
5	chr2:20785800-20790600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr2:20785800-20793000	Weak transcription	Gastric	stomach
7	chr2:20785800-20794600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:20785800-20795200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:20785800-20796000	Weak transcription	Aorta	Aorta
10	chr2:20786000-20790400	Weak transcription	Liver	Liver
11	chr2:20786000-20790400	Weak transcription	Fetal Lung	lung
12	chr2:20786000-20790400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:20786000-20790600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:20786000-20790800	Weak transcription	Pancreas	Pancrea
15	chr2:20786000-20792200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:20786000-20792800	Weak transcription	Colonic Mucosa	Colon
17	chr2:20786000-20793000	Weak transcription	Brain Hippocampus Middle	brain
18	chr2:20786000-20794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:20786000-20795200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:20786200-20790200	Weak transcription	Ovary	ovary
21	chr2:20786200-20790400	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:20786200-20790400	Weak transcription	Fetal Intestine Small	intestine
23	chr2:20786200-20797600	Weak transcription	Psoas Muscle	Psoas
24	chr2:20786800-20793400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:20787200-20800200	Enhancers	Right Ventricle	heart
26	chr2:20787400-20792800	Weak transcription	Fetal Kidney	kidney
27	chr2:20787400-20794800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:20787800-20790800	Weak transcription	Brain Substantia Nigra	brain
29	chr2:20788200-20792000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:20788400-20790800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:20788400-20791200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:20788400-20791400	Enhancers	Right Atrium	heart
33	chr2:20788400-20791800	Enhancers	Left Ventricle	heart
34	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:20788400-20794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:20788600-20791600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr2:20788800-20790800	Transcr. at gene 5' and 3'	HepG2	liver
38	chr2:20788800-20790800	Enhancers	NH-A	brain
39	chr2:20788800-20791000	Enhancers	Lung	lung
40	chr2:20788800-20791400	Enhancers	Fetal Muscle Leg	muscle
41	chr2:20788800-20791400	Enhancers	Fetal Stomach	stomach
42	chr2:20788800-20791400	Enhancers	NHDF-Ad	bronchial
43	chr2:20788800-20791600	Enhancers	HSMM	muscle
44	chr2:20789000-20791400	Enhancers	NHLF	lung
45	chr2:20789000-20794000	Enhancers	NHEK	skin
46	chr2:20789000-20798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:20789200-20790400	Enhancers	A549	lung
48	chr2:20789200-20790600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:20789200-20790600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:20789200-20790600	Enhancers	Osteobl	bone

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