Variant report

Variant	rs11071305
Chromosome Location	chr15:57371178-57371179
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57370971..57373246-chr15:57380194..57383118,2	K562	blood:
2	chr15:57370291..57372471-chr15:57379533..57381694,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10518894	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10518895	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11630195	0.82[EUR][1000 genomes]
rs11631228	0.82[EUR][1000 genomes]
rs11631541	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11635645	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11636100	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11852340	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11853331	0.91[EUR][1000 genomes]
rs11855648	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11858471	0.82[EUR][1000 genomes]
rs12898327	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12898844	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12899187	0.82[EUR][1000 genomes]
rs12899904	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12899915	0.84[EUR][1000 genomes]
rs12900038	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12900589	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12900874	0.84[ASN][1000 genomes]
rs12900986	0.82[EUR][1000 genomes]
rs12901780	0.81[EUR][1000 genomes]
rs12903578	0.85[EUR][1000 genomes]
rs12904070	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12905900	0.86[EUR][1000 genomes]
rs12906873	0.82[EUR][1000 genomes]
rs12906936	0.82[EUR][1000 genomes]
rs12909402	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12909811	0.82[EUR][1000 genomes]
rs12910094	0.91[EUR][1000 genomes]
rs12910170	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12912007	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12914182	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12914410	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12914625	0.82[EUR][1000 genomes]
rs12915473	0.85[EUR][1000 genomes]
rs12916237	0.83[EUR][1000 genomes]
rs12916958	0.82[EUR][1000 genomes]
rs12917247	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1430823	0.86[EUR][1000 genomes]
rs17239040	0.83[EUR][1000 genomes]
rs17819700	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2111891	0.80[EUR][1000 genomes]
rs2116065	0.82[EUR][1000 genomes]
rs2116066	0.82[EUR][1000 genomes]
rs2169465	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2169466	0.88[ASN][1000 genomes]
rs2264904	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2414490	0.83[EUR][1000 genomes]
rs2414494	0.90[EUR][1000 genomes]
rs2439919	0.84[ASN][1000 genomes]
rs2583108	0.83[EUR][1000 genomes]
rs2585082	0.82[EUR][1000 genomes]
rs2585087	0.83[EUR][1000 genomes]
rs2585102	0.84[EUR][1000 genomes]
rs2733171	0.83[EUR][1000 genomes]
rs2733174	0.84[EUR][1000 genomes]
rs2733176	0.84[EUR][1000 genomes]
rs2733188	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2733307	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2733332	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28414972	0.81[ASN][1000 genomes]
rs28514688	0.81[ASN][1000 genomes]
rs28648502	0.80[ASN][1000 genomes]
rs2927189	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2951898	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2951899	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2957591	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2962993	0.84[EUR][1000 genomes]
rs34262415	0.82[EUR][1000 genomes]
rs35646942	0.82[EUR][1000 genomes]
rs4774910	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62022986	0.82[EUR][1000 genomes]
rs62022988	0.86[EUR][1000 genomes]
rs6493901	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7168387	0.81[ASN][1000 genomes]
rs7170133	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8037901	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv904251	chr15:57241970-57575916	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11071305	TCF12	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57324600-57398600	Weak transcription	Fetal Muscle Leg	muscle
2	chr15:57336600-57371800	Weak transcription	K562	blood
3	chr15:57340200-57372600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr15:57346000-57374400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:57347000-57373400	Weak transcription	Fetal Intestine Small	intestine
6	chr15:57347600-57373000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr15:57347600-57373200	Weak transcription	Fetal Intestine Large	intestine
8	chr15:57350400-57372400	Weak transcription	Fetal Lung	lung
9	chr15:57350400-57373400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr15:57350400-57374000	Weak transcription	Ovary	ovary
11	chr15:57353800-57373800	Weak transcription	Left Ventricle	heart
12	chr15:57353800-57406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:57354200-57384600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:57354600-57371600	Weak transcription	NH-A	brain
15	chr15:57355000-57374000	Weak transcription	Osteobl	bone
16	chr15:57356000-57393400	Weak transcription	Thymus	Thymus
17	chr15:57356400-57371800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:57356400-57373800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr15:57356600-57372000	Weak transcription	Primary B cells from cord blood	blood
20	chr15:57356800-57371200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:57357600-57371600	Weak transcription	HUVEC	blood vessel
22	chr15:57360200-57371800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:57360400-57372400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:57360600-57371600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:57362400-57371200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:57362800-57384200	Weak transcription	HepG2	liver
27	chr15:57363000-57372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr15:57363200-57371600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:57363800-57378200	Weak transcription	Gastric	stomach
30	chr15:57363800-57382000	Weak transcription	Right Atrium	heart
31	chr15:57364800-57371400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:57365000-57371600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:57365200-57374200	Weak transcription	Fetal Kidney	kidney
34	chr15:57365200-57384000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr15:57365400-57371400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:57365400-57371400	Weak transcription	GM12878-XiMat	blood
37	chr15:57365400-57371600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr15:57365400-57371800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:57365400-57372400	Weak transcription	Fetal Heart	heart
40	chr15:57365400-57372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:57365400-57374000	Weak transcription	NHEK	skin
42	chr15:57365600-57371600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr15:57365600-57385200	Weak transcription	HSMM	muscle
44	chr15:57365800-57371400	Weak transcription	Brain Anterior Caudate	brain
45	chr15:57365800-57371600	Weak transcription	Colon Smooth Muscle	Colon
46	chr15:57365800-57374200	Weak transcription	A549	lung
47	chr15:57365800-57384000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:57366800-57371400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr15:57367000-57371400	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr15:57367000-57371800	Weak transcription	Primary B cells from peripheral blood	blood

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