Variant report

Variant	rs11070712
Chromosome Location	chr15:49932600-49932601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:49926653..49929623-chr15:49932386..49934262,2	K562	blood:
2	chr15:49922511..49924888-chr15:49932196..49934708,2	K562	blood:
3	chr15:49912557..49915525-chr15:49931219..49934406,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166262	Chromatin interaction
ENSG00000104047	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10519237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12592126	1.00[AFR][1000 genomes]
rs12901023	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12901631	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12902098	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904876	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12906292	1.00[AFR][1000 genomes]
rs12906970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12907986	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12908295	1.00[AFR][1000 genomes]
rs12909835	1.00[AFR][1000 genomes]
rs12910139	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12913210	1.00[AFR][1000 genomes]
rs12913379	1.00[AFR][1000 genomes]
rs12913643	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12913706	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1507617	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1588129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16962583	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16962673	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16962733	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16962755	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1843147	0.88[CEU][hapmap];0.94[CHB][hapmap];0.86[EUR][1000 genomes]
rs1911617	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2007443	1.00[AFR][1000 genomes]
rs2202711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2202712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2202713	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34134305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34200965	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34377746	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34443321	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34531968	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34737835	1.00[AFR][1000 genomes]
rs34764936	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34779255	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34798694	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34918968	1.00[AFR][1000 genomes]
rs34951376	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34980263	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34982209	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35091054	1.00[AFR][1000 genomes]
rs35112372	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35145376	1.00[AFR][1000 genomes]
rs35224895	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35240887	1.00[AFR][1000 genomes]
rs35451130	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35563735	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35683135	1.00[AFR][1000 genomes]
rs35699093	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35799750	1.00[AFR][1000 genomes]
rs36106985	1.00[AFR][1000 genomes]
rs36114417	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4304966	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4407014	1.00[AFR][1000 genomes]
rs55662230	1.00[AFR][1000 genomes]
rs56248339	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66535408	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67031905	1.00[AFR][1000 genomes]
rs67196042	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71467682	1.00[AFR][1000 genomes]
rs71467683	1.00[AFR][1000 genomes]
rs71467692	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7175275	1.00[AFR][1000 genomes]
rs72729117	1.00[AFR][1000 genomes]
rs72729172	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72731149	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72731157	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs731052	1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs906420	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.98[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	nsv431388	chr15:49835663-49997483	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49913600-49937400	Weak transcription	Spleen	Spleen
2	chr15:49914400-49936400	Weak transcription	Small Intestine	intestine
3	chr15:49914400-49938000	Weak transcription	Brain Substantia Nigra	brain
4	chr15:49914600-49932600	Weak transcription	Fetal Brain Male	brain
5	chr15:49914600-49934400	Weak transcription	Stomach Mucosa	stomach
6	chr15:49914800-49937800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:49915000-49936600	Weak transcription	Pancreas	Pancrea
8	chr15:49915400-49937800	Weak transcription	Brain Anterior Caudate	brain
9	chr15:49916000-49936400	Weak transcription	Psoas Muscle	Psoas
10	chr15:49918000-49938600	Weak transcription	Right Ventricle	heart
11	chr15:49918000-49938800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:49918200-49932800	Weak transcription	Thymus	Thymus
13	chr15:49918200-49933200	Weak transcription	Esophagus	oesophagus
14	chr15:49918200-49934000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:49918200-49934000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr15:49918200-49935800	Weak transcription	Brain Germinal Matrix	brain
17	chr15:49918200-49936200	Weak transcription	Aorta	Aorta
18	chr15:49918200-49936600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr15:49918200-49936600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:49918200-49937200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:49918200-49938000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr15:49918200-49938400	Weak transcription	HepG2	liver
23	chr15:49918200-49942200	Weak transcription	GM12878-XiMat	blood
24	chr15:49918400-49938000	Weak transcription	Colonic Mucosa	Colon
25	chr15:49918600-49938800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr15:49919800-49940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr15:49920000-49938200	Weak transcription	Brain Angular Gyrus	brain
28	chr15:49920000-49940400	Weak transcription	A549	lung
29	chr15:49920200-49936600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr15:49920800-49936400	Weak transcription	K562	blood
31	chr15:49920800-49937800	Weak transcription	NHEK	skin
32	chr15:49920800-49938000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr15:49920800-49940000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:49921000-49935600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:49921000-49937600	Weak transcription	HMEC	breast
36	chr15:49921400-49934400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:49922000-49934400	Strong transcription	Hela-S3	cervix
38	chr15:49924000-49936400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:49924400-49935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:49925200-49936400	Weak transcription	NHLF	lung
41	chr15:49925400-49935200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:49926000-49938000	Weak transcription	NH-A	brain
43	chr15:49927000-49940000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr15:49927600-49938800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr15:49927800-49936800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr15:49927800-49938600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr15:49928000-49936600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:49928000-49940200	Weak transcription	Fetal Intestine Small	intestine
49	chr15:49928200-49936200	Weak transcription	Primary T cells from cord blood	blood
50	chr15:49928200-49936200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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