Variant report

Variant	rs2971866
Chromosome Location	chr2:234390614-234390615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234390304-234390943	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr2:234390359-234390617	K562	blood:	n/a	n/a
3	POLR2A	chr2:234390313-234390676	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:234388311-234391938	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234388753..234400184-chr2:234596527..234603213,35	MCF-7	breast:
2	chr2:234386983..234399433-chr2:234613282..234621553,23	MCF-7	breast:
3	chr2:234387197..234390730-chr2:234600088..234603557,3	MCF-7	breast:
4	chr2:234356161..234358499-chr2:234388405..234391243,2	MCF-7	breast:
5	chr2:234388450..234390817-chr2:234616855..234619470,2	MCF-7	breast:
6	chr2:234389092..234391362-chr2:234473035..234476486,3	MCF-7	breast:

No data

Variant related genes	Relation type
USP40	TF binding region
ENSG00000167165	Chromatin interaction
ENSG00000224814	Chromatin interaction
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10169180	0.91[EUR][1000 genomes]
rs10177112	0.91[EUR][1000 genomes]
rs10178062	0.92[EUR][1000 genomes]
rs10178357	0.92[EUR][1000 genomes]
rs10181039	0.84[ASN][1000 genomes]
rs10183033	0.92[EUR][1000 genomes]
rs10185923	0.92[EUR][1000 genomes]
rs10193542	0.84[ASN][1000 genomes]
rs10198879	0.90[EUR][1000 genomes]
rs10207915	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10208361	0.92[EUR][1000 genomes]
rs1037451	0.91[EUR][1000 genomes]
rs10803653	0.89[EUR][1000 genomes]
rs10929195	0.92[EUR][1000 genomes]
rs10929200	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10929208	0.91[EUR][1000 genomes]
rs1097929	0.93[EUR][1000 genomes]
rs1097930	0.93[EUR][1000 genomes]
rs1097931	0.93[EUR][1000 genomes]
rs11690686	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1220430	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12467878	0.91[EUR][1000 genomes]
rs12473743	0.91[EUR][1000 genomes]
rs12473824	0.91[EUR][1000 genomes]
rs12615446	0.92[EUR][1000 genomes]
rs12692193	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12692195	0.92[EUR][1000 genomes]
rs13002253	0.92[EUR][1000 genomes]
rs13018364	0.89[EUR][1000 genomes]
rs13392183	0.84[ASN][1000 genomes]
rs13400563	0.84[ASN][1000 genomes]
rs1377459	0.92[EUR][1000 genomes]
rs1377461	0.89[EUR][1000 genomes]
rs1453321	0.91[EUR][1000 genomes]
rs1470864	0.98[EUR][1000 genomes]
rs1470865	0.91[EUR][1000 genomes]
rs1542325	0.91[EUR][1000 genomes]
rs1542326	0.91[EUR][1000 genomes]
rs1545525	0.91[EUR][1000 genomes]
rs1597940	0.92[EUR][1000 genomes]
rs1901812	0.91[EUR][1000 genomes]
rs2034675	0.91[EUR][1000 genomes]
rs2124045	0.98[EUR][1000 genomes]
rs2167884	0.92[EUR][1000 genomes]
rs2167885	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2602387	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2602389	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2603545	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2603546	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2603547	0.98[EUR][1000 genomes]
rs2924809	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2924810	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924811	0.93[EUR][1000 genomes]
rs2924813	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2971861	0.96[EUR][1000 genomes]
rs2971862	0.97[EUR][1000 genomes]
rs2971863	0.98[EUR][1000 genomes]
rs2971864	0.98[EUR][1000 genomes]
rs2971865	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2971867	0.98[EUR][1000 genomes]
rs2971869	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2971870	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2971871	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2971872	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2971873	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4047187	0.91[EUR][1000 genomes]
rs4047188	0.94[EUR][1000 genomes]
rs4047198	0.91[EUR][1000 genomes]
rs4047199	0.91[EUR][1000 genomes]
rs4233627	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4663684	0.92[EUR][1000 genomes]
rs4663698	0.91[EUR][1000 genomes]
rs55679565	0.92[EUR][1000 genomes]
rs58685260	1.00[ASN][1000 genomes]
rs59160392	0.90[EUR][1000 genomes]
rs6710645	0.91[EUR][1000 genomes]
rs6710772	0.92[EUR][1000 genomes]
rs6716988	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6720619	0.90[EUR][1000 genomes]
rs6726184	0.89[EUR][1000 genomes]
rs6753062	0.90[EUR][1000 genomes]
rs6756068	0.91[EUR][1000 genomes]
rs73115402	0.84[ASN][1000 genomes]
rs73117551	0.84[ASN][1000 genomes]
rs7557849	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7567713	0.92[EUR][1000 genomes]
rs7571288	0.92[EUR][1000 genomes]
rs7572310	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7575694	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7578898	0.92[EUR][1000 genomes]
rs7599285	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7603410	0.91[EUR][1000 genomes]
rs7604337	0.83[EUR][1000 genomes]
rs7724	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs838543	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838544	0.93[EUR][1000 genomes]
rs838545	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838548	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838549	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838550	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838551	0.93[EUR][1000 genomes]
rs838552	0.93[EUR][1000 genomes]
rs838555	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838557	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs838558	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs838559	0.98[EUR][1000 genomes]
rs838561	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs838562	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs860794	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs896833	0.93[EUR][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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv3214	chr2:234384436-234416949	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 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	chr2:234339600-234394200	Weak transcription	HUVEC	blood vessel
2	chr2:234339800-234391400	Weak transcription	NHDF-Ad	bronchial
3	chr2:234343000-234393000	Strong transcription	Primary T cells from cord blood	blood
4	chr2:234343000-234402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:234364000-234411200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234365800-234393600	Weak transcription	Hela-S3	cervix
7	chr2:234373000-234392200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:234373000-234409800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:234373400-234391000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:234373800-234404400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:234375400-234411200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:234377800-234391400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:234377800-234397200	Weak transcription	Small Intestine	intestine
14	chr2:234378200-234395000	Weak transcription	Right Atrium	heart
15	chr2:234378400-234390800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:234378400-234391000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:234378600-234391600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:234378800-234391400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:234379000-234391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:234380800-234395000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:234381200-234394800	Strong transcription	Pancreas	Pancrea
22	chr2:234381600-234391000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:234381600-234393400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:234381600-234399600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr2:234382000-234391600	Weak transcription	GM12878-XiMat	blood
26	chr2:234383000-234395000	Strong transcription	NHLF	lung
27	chr2:234383400-234391200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:234383400-234391400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:234383400-234395400	Strong transcription	Brain Hippocampus Middle	brain
30	chr2:234383400-234400200	Strong transcription	Fetal Intestine Small	intestine
31	chr2:234384000-234392800	Strong transcription	Thymus	Thymus
32	chr2:234384000-234395200	Strong transcription	Liver	Liver
33	chr2:234384000-234412400	Weak transcription	Fetal Heart	heart
34	chr2:234384200-234391600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:234384200-234392800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:234384200-234394400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:234384200-234394400	Strong transcription	Placenta	Placenta
38	chr2:234384200-234394600	Strong transcription	Fetal Thymus	thymus
39	chr2:234384200-234394800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:234384200-234394800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr2:234384200-234395000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:234384400-234391800	Strong transcription	Ovary	ovary
43	chr2:234384400-234395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:234384400-234395000	Strong transcription	Left Ventricle	heart
45	chr2:234384400-234398200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:234384400-234402200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:234384400-234402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:234384600-234392800	Strong transcription	Right Ventricle	heart
49	chr2:234384600-234395000	Strong transcription	Brain Cingulate Gyrus	brain
50	chr2:234384600-234408400	Strong transcription	Duodenum Mucosa	Duodenum

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