Variant report

Variant	rs11072499
Chromosome Location	chr15:74968873-74968874
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	MAFK	chr15:74968804-74969010	HepG2	liver:	n/a	n/a
2	MAFK	chr15:74968839-74969056	HepG2	liver:	n/a	n/a
3	MAFF	chr15:74968834-74968990	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74968474..74971809-chr15:75051252..75053617,3	K562	blood:
2	chr15:74968313..74970018-chr15:74980280..74982101,2	K562	blood:
3	chr15:74967287..74968938-chr15:74986943..74989604,2	MCF-7	breast:

Variant related genes	Relation type
EDC3	TF binding region
ENSG00000179151	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1030888	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes]
rs10459601	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs10459648	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs1048943	0.81[MEX][hapmap]
rs11072492	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs11072494	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs11072495	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs11072496	0.92[GIH][hapmap]
rs11072497	0.87[GIH][hapmap]
rs11072498	0.87[GIH][hapmap]
rs1128628	0.90[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11629749	0.89[GIH][hapmap]
rs11629946	0.87[GIH][hapmap]
rs11857192	0.83[AMR][1000 genomes]
rs12441817	0.82[AMR][1000 genomes]
rs12441932	0.84[TSI][hapmap]
rs17861109	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17861120	0.83[AMR][1000 genomes]
rs2068982	0.89[GIH][hapmap];0.84[TSI][hapmap]
rs2415242	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs4073149	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4646421	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.84[ASN][1000 genomes]
rs4646903	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4886601	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs4887156	0.81[AMR][1000 genomes]
rs4887158	0.81[AMR][1000 genomes]
rs4887159	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs4887163	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs56291837	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59665282	0.81[AMR][1000 genomes]
rs6495112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.90[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes]
rs6495116	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs6495117	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs6495118	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs6495119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6495121	0.82[CHD][hapmap];0.87[GIH][hapmap]
rs7161903	0.87[GIH][hapmap]
rs7170734	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7171838	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs7175512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes]
rs7178568	0.87[GIH][hapmap]
rs7497036	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7497342	0.87[GIH][hapmap]
rs7497906	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8023786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes]
rs8028430	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs8028893	0.81[AMR][1000 genomes]
rs8029116	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs8029215	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs8029744	0.82[AMR][1000 genomes]
rs8030076	0.81[AMR][1000 genomes]
rs8040674	0.87[AMR][1000 genomes]
rs950323	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9635320	0.86[GIH][hapmap];0.84[TSI][hapmap]
rs9672559	0.82[CHD][hapmap];0.92[GIH][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap]
rs9788672	0.85[AMR][1000 genomes];0.89[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	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv817698	chr15:74889163-75019449	Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 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	chr15:74947800-74970000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:74957000-74987000	Weak transcription	HMEC	breast
3	chr15:74957000-74987400	Weak transcription	Psoas Muscle	Psoas
4	chr15:74957400-74987200	Weak transcription	A549	lung
5	chr15:74964000-74970000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:74964000-74977200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:74964000-74977200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:74964000-74977200	Weak transcription	Pancreas	Pancrea
9	chr15:74964000-74987200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:74964000-74987400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:74964200-74977800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr15:74964200-74987200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr15:74965600-74976600	Weak transcription	NHEK	skin
14	chr15:74965600-74977000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr15:74965600-74977200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:74965600-74977200	Weak transcription	HSMMtube	muscle
17	chr15:74965600-74977400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:74965600-74977400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:74965600-74987400	Weak transcription	Right Ventricle	heart
20	chr15:74965600-74987400	Weak transcription	Spleen	Spleen
21	chr15:74965600-74987600	Weak transcription	Esophagus	oesophagus
22	chr15:74965800-74971600	Weak transcription	Brain Germinal Matrix	brain
23	chr15:74965800-74977000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr15:74965800-74977000	Weak transcription	K562	blood
25	chr15:74965800-74977200	Weak transcription	Fetal Kidney	kidney
26	chr15:74965800-74977600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr15:74965800-74987000	Weak transcription	HUVEC	blood vessel
28	chr15:74965800-74987200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr15:74965800-74987400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr15:74966000-74977000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr15:74966000-74977200	Weak transcription	Thymus	Thymus
32	chr15:74966000-74982800	Weak transcription	Colonic Mucosa	Colon
33	chr15:74966400-74986400	Weak transcription	NHDF-Ad	bronchial
34	chr15:74966600-74987200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:74966800-74977000	Weak transcription	Fetal Brain Female	brain
36	chr15:74967000-74972800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr15:74967000-74986600	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:74967000-74987000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:74967200-74969000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:74967200-74973400	Weak transcription	Brain Angular Gyrus	brain
41	chr15:74967200-74977000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr15:74967200-74987600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:74967400-74972000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:74967400-74975000	Weak transcription	Fetal Intestine Small	intestine
45	chr15:74967400-74975800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:74967400-74976200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:74967400-74976400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr15:74967400-74976600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr15:74967400-74976600	Weak transcription	Liver	Liver
50	chr15:74967400-74976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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