Variant report

Variant	rs2111890
Chromosome Location	chr15:57227137-57227138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57209996..57212300-chr15:57225729..57228088,3	K562	blood:
2	chr15:57219695..57221734-chr15:57225928..57228525,2	K562	blood:
3	chr15:57215422..57217856-chr15:57225443..57228595,3	K562	blood:
4	chr15:57222937..57224563-chr15:57225257..57227921,2	K562	blood:
5	chr15:57222937..57225630-chr15:57226421..57228724,2	K562	blood:

Variant related genes	Relation type
ENSG00000140262	Chromatin interaction
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1015967	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs10438332	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs11071307	0.81[CEU][hapmap]
rs1139006	0.80[ASN][1000 genomes]
rs11630965	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11632502	0.86[JPT][hapmap]
rs11636655	0.82[CHB][hapmap]
rs11856338	1.00[ASW][hapmap];0.91[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.95[LWK][hapmap];0.95[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12437976	0.95[CEU][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12440219	0.86[CEU][hapmap];0.86[YRI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12591367	0.86[JPT][hapmap]
rs12595644	0.80[ASN][1000 genomes]
rs12902058	0.95[CEU][hapmap];1.00[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];0.98[ASN][1000 genomes]
rs12906025	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13313455	0.82[YRI][hapmap]
rs1346880	0.86[JPT][hapmap]
rs1625176	0.86[JPT][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1631079	0.90[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs1642925	0.80[ASN][1000 genomes]
rs1642928	0.80[ASN][1000 genomes]
rs1642935	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1642936	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1642937	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1642940	0.80[CEU][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1652732	0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1652738	0.90[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes]
rs1652739	0.90[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs1652740	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1652741	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs1657926	0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs169893	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17239222	0.82[CHB][hapmap]
rs17819940	0.90[GIH][hapmap];0.83[TSI][hapmap]
rs1820996	0.82[CHB][hapmap]
rs190039	0.80[EUR][1000 genomes]
rs1963831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1968399	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1975092	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2116067	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2116068	0.84[EUR][1000 genomes]
rs2126402	0.82[CHB][hapmap]
rs213148	0.80[ASN][1000 genomes]
rs213152	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs213155	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs213160	0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs213163	0.90[GIH][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs213166	0.86[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs213168	0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2163370	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2169468	0.82[CHB][hapmap]
rs2252289	0.82[CHB][hapmap];0.86[TSI][hapmap]
rs2435905	0.86[JPT][hapmap];0.86[TSI][hapmap]
rs2439921	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2439925	0.83[AMR][1000 genomes]
rs2464427	0.82[CHB][hapmap];0.84[TSI][hapmap]
rs2464428	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs2470080	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2470081	0.82[CHB][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs2470083	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2470084	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2543675	0.95[CEU][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs2566840	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2566844	0.90[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2566846	0.80[ASN][1000 genomes]
rs2566856	0.86[TSI][hapmap]
rs2585076	0.80[CEU][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes]
rs2585116	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2703588	0.82[CHB][hapmap]
rs2733187	0.82[CHB][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs28637136	0.90[ASN][1000 genomes]
rs2920272	0.86[JPT][hapmap]
rs2951900	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2951902	0.82[CHB][hapmap]
rs2957573	0.86[JPT][hapmap]
rs2957576	0.90[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap]
rs2957578	0.82[CHB][hapmap];0.90[GIH][hapmap];0.86[TSI][hapmap]
rs2957592	0.82[CHB][hapmap]
rs2962994	0.86[JPT][hapmap]
rs2962995	0.81[CHB][hapmap]
rs34373044	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4581646	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4774245	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs4774246	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774247	0.91[ASN][1000 genomes]
rs4774900	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7162730	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7164742	0.91[CEU][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs7168945	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7183392	0.86[JPT][hapmap]
rs72749491	0.80[ASN][1000 genomes]
rs7359192	0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs8023343	0.93[YRI][hapmap]
rs8029445	0.86[JPT][hapmap]
rs8031788	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8035485	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs9806712	0.86[JPT][hapmap];0.80[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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv904250	chr15:57225766-57294085	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2111890	TCF12	cis	parietal	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57212400-57230400	Weak transcription	Lung	lung
2	chr15:57212400-57233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:57212400-57256000	Weak transcription	Pancreas	Pancrea
4	chr15:57212600-57241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:57212800-57227200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr15:57213000-57227400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:57213200-57256000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:57215600-57227400	Weak transcription	Fetal Brain Female	brain
9	chr15:57216400-57241800	Weak transcription	Fetal Brain Male	brain
10	chr15:57220400-57236400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr15:57221400-57227200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr15:57222400-57227400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:57222400-57229600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr15:57222400-57231200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:57222600-57228800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:57222600-57229000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:57222600-57231200	Weak transcription	Osteobl	bone
18	chr15:57222600-57231800	Weak transcription	HSMM	muscle
19	chr15:57222600-57233000	Weak transcription	Right Ventricle	heart
20	chr15:57222600-57250200	Weak transcription	NH-A	brain
21	chr15:57222800-57231800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr15:57222800-57232600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:57222800-57240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:57222800-57255000	Weak transcription	HMEC	breast
25	chr15:57223000-57227400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:57223000-57236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:57223200-57227400	Enhancers	Brain Hippocampus Middle	brain
28	chr15:57223200-57227400	Weak transcription	Placenta	Placenta
29	chr15:57223200-57230800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:57223200-57240400	Weak transcription	Aorta	Aorta
31	chr15:57224200-57231000	Weak transcription	NHDF-Ad	bronchial
32	chr15:57224400-57227200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:57224400-57231200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:57224400-57231600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:57224400-57231800	Weak transcription	Adipose Nuclei	Adipose
36	chr15:57224400-57231800	Weak transcription	Right Atrium	heart
37	chr15:57224400-57234400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:57224400-57235200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:57224400-57238000	Weak transcription	Fetal Lung	lung
40	chr15:57224600-57231000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr15:57224600-57231000	Weak transcription	HepG2	liver
42	chr15:57224600-57231000	Weak transcription	NHLF	lung
43	chr15:57224600-57233800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:57224600-57248600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr15:57225000-57227400	Weak transcription	Psoas Muscle	Psoas
46	chr15:57225000-57227400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:57225000-57231200	Weak transcription	Small Intestine	intestine
48	chr15:57225000-57239400	Weak transcription	Left Ventricle	heart
49	chr15:57225000-57244200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:57225000-57249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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