Variant report

Variant	rs2293221
Chromosome Location	chr2:152653380-152653381
allele	C/T
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	USF1	chr2:152653247-152653694	ECC-1	luminal epithelium:	n/a	n/a
2	TEAD4	chr2:152653262-152653644	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr2:152653142-152653709	ECC-1	luminal epithelium:	n/a	chr2:152653420-152653434 chr2:152653263-152653277
4	FOXA1	chr2:152653370-152653587	T-47D	breast:	n/a	n/a
5	TCF12	chr2:152653332-152653710	ECC-1	luminal epithelium:	n/a	n/a
6	TEAD4	chr2:152653239-152653694	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr2:152653241-152653634	ECC-1	luminal epithelium:	n/a	chr2:152653419-152653432
8	USF1	chr2:152653277-152653619	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr2:152653340-152653971	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152653051..152655697-chr2:152658456..152660415,2	K562	blood:
2	chr2:152646306..152650027-chr2:152650501..152653927,4	K562	blood:

Variant related genes	Relation type
ARL5A	TF binding region
ENSG00000162980	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10171724	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10180065	0.92[ASN][1000 genomes]
rs10184063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10198530	0.93[ASN][1000 genomes]
rs10198531	0.95[ASN][1000 genomes]
rs10754989	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11680834	0.85[AFR][1000 genomes]
rs11682909	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11894672	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11896217	0.86[ASN][1000 genomes]
rs12470190	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12472627	0.98[ASN][1000 genomes]
rs12693116	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13005519	0.82[AFR][1000 genomes]
rs1523181	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1916301	0.98[ASN][1000 genomes]
rs1916302	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2030588	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3768658	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3922996	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3922997	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4233654	0.86[ASN][1000 genomes]
rs4303715	0.85[AFR][1000 genomes]
rs4306714	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4393745	0.84[ASN][1000 genomes]
rs4414677	0.92[ASN][1000 genomes]
rs4450595	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4510224	0.83[ASN][1000 genomes]
rs4552188	0.86[ASN][1000 genomes]
rs4605370	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4664066	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6433590	0.84[ASN][1000 genomes]
rs6715027	0.91[ASN][1000 genomes]
rs6715607	0.84[ASN][1000 genomes]
rs6718439	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6740508	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7557801	0.84[ASN][1000 genomes]
rs7564630	0.92[ASN][1000 genomes]
rs7580820	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7581532	0.88[ASN][1000 genomes]
rs7583060	0.92[ASN][1000 genomes]
rs7583148	0.92[ASN][1000 genomes]
rs7592798	0.99[ASN][1000 genomes]
rs9287998	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9288006	0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3693430	chr2:152648677-152681200	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152616800-152662400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:152617000-152669400	Weak transcription	Gastric	stomach
3	chr2:152619000-152677400	Weak transcription	Brain Substantia Nigra	brain
4	chr2:152622200-152661800	Weak transcription	Fetal Kidney	kidney
5	chr2:152623000-152680000	Weak transcription	Spleen	Spleen
6	chr2:152623400-152658800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:152623400-152659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:152623600-152659000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr2:152624000-152662600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr2:152624400-152656800	Weak transcription	HepG2	liver
11	chr2:152625400-152660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr2:152628000-152654800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:152629000-152661800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:152631400-152667200	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:152631600-152661800	Weak transcription	HMEC	breast
16	chr2:152632000-152659000	Weak transcription	NHLF	lung
17	chr2:152632200-152656400	Weak transcription	NH-A	brain
18	chr2:152632200-152679200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:152633000-152662200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:152634000-152665400	Weak transcription	Fetal Stomach	stomach
21	chr2:152634000-152683400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:152634200-152657000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:152634200-152661000	Weak transcription	A549	lung
24	chr2:152634600-152661800	Weak transcription	NHEK	skin
25	chr2:152634800-152658200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:152634800-152672200	Weak transcription	Right Ventricle	heart
27	chr2:152635600-152659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr2:152636000-152662400	Weak transcription	Fetal Brain Female	brain
29	chr2:152636400-152659000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:152636400-152661800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:152636600-152661600	Weak transcription	Colonic Mucosa	Colon
32	chr2:152637000-152657400	Weak transcription	Dnd41	blood
33	chr2:152637000-152657800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:152637000-152659000	Weak transcription	Fetal Brain Male	brain
35	chr2:152638600-152661800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:152638600-152662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:152638600-152665200	Weak transcription	Pancreas	Pancrea
38	chr2:152638600-152671000	Weak transcription	Thymus	Thymus
39	chr2:152638800-152665200	Weak transcription	Fetal Intestine Small	intestine
40	chr2:152638800-152668200	Weak transcription	Lung	lung
41	chr2:152638800-152672800	Weak transcription	Aorta	Aorta
42	chr2:152639600-152659000	Weak transcription	Fetal Lung	lung
43	chr2:152640600-152658800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:152642000-152659000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:152642000-152661800	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:152642000-152665400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:152642200-152657400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:152642200-152658200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:152642200-152661200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:152642200-152662000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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