Variant report

Variant	rs2128171
Chromosome Location	chr15:56999901-56999902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56997588..56999927-chr15:57024317..57027282,2	K562	blood:
2	chr15:56999062..57001613-chr15:57024278..57025915,2	MCF-7	breast:
3	chr15:56997588..57000196-chr15:57024112..57025817,2	K562	blood:

Variant related genes	Relation type
ENSG00000137871	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10518871	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11852822	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11856432	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12912666	0.85[CHB][hapmap]
rs3784553	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs59066195	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493882	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6493886	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7164095	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7171500	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7172110	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7173137	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7175191	0.81[CEU][hapmap]
rs7181745	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2128171	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56919800-57016600	Weak transcription	Small Intestine	intestine
2	chr15:56937400-57000200	Weak transcription	Colonic Mucosa	Colon
3	chr15:56958400-57019200	Weak transcription	Fetal Intestine Small	intestine
4	chr15:56971000-57023400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:56988800-57008400	Weak transcription	Fetal Heart	heart
6	chr15:56991200-57001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:56992400-57008400	Weak transcription	K562	blood
8	chr15:56992400-57010800	Weak transcription	Spleen	Spleen
9	chr15:56992400-57021800	Weak transcription	Right Ventricle	heart
10	chr15:56992600-57022600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:56993000-57016000	Weak transcription	Pancreas	Pancrea
12	chr15:56993000-57024000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:56993200-57000200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:56993200-57001200	Weak transcription	Stomach Mucosa	stomach
15	chr15:56993200-57001600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:56993200-57002400	Weak transcription	NHEK	skin
17	chr15:56993200-57007200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr15:56993200-57008200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:56993200-57010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr15:56993200-57010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:56993200-57011600	Weak transcription	HMEC	breast
22	chr15:56993400-57021600	Weak transcription	Fetal Brain Male	brain
23	chr15:56994000-57023800	Weak transcription	Fetal Kidney	kidney
24	chr15:56995600-57000200	Weak transcription	Brain Hippocampus Middle	brain
25	chr15:56995600-57000600	Weak transcription	Brain Germinal Matrix	brain
26	chr15:56995800-57000200	Weak transcription	Brain Substantia Nigra	brain
27	chr15:56995800-57016000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:56995800-57022200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:56996000-57004600	Weak transcription	Esophagus	oesophagus
30	chr15:56996000-57005400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:56996000-57008000	Weak transcription	Brain Angular Gyrus	brain
32	chr15:56996000-57009200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr15:56996000-57010800	Weak transcription	Brain Anterior Caudate	brain
34	chr15:56996000-57011000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:56996000-57011400	Weak transcription	Aorta	Aorta
36	chr15:56996000-57013000	Weak transcription	Ovary	ovary
37	chr15:56996000-57021800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr15:56996200-57000000	Weak transcription	GM12878-XiMat	blood
39	chr15:56996200-57001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:56996400-57000000	Weak transcription	Primary T cells from cord blood	blood
41	chr15:56996400-57000400	Weak transcription	A549	lung
42	chr15:56996400-57007600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr15:56996400-57015800	Weak transcription	Fetal Intestine Large	intestine
44	chr15:56996400-57021600	Weak transcription	HSMMtube	muscle
45	chr15:56996400-57022600	Weak transcription	NH-A	brain
46	chr15:56996600-57011000	Weak transcription	Dnd41	blood
47	chr15:56996800-57022600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:56997000-57000400	Weak transcription	Colon Smooth Muscle	Colon
49	chr15:56997000-57003800	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr15:56997000-57016000	Weak transcription	HSMM	muscle

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