Variant report

Variant	rs16963032
Chromosome Location	chr15:50195344-50195345
allele	A/G
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	FOSL2	chr15:50194383-50195402	A549	lung:	n/a	chr15:50195110-50195121 chr15:50195109-50195116 chr15:50195109-50195117
2	POLR2A	chr15:50195298-50195500	ProgFib	skin:	n/a	n/a
3	CTCF	chr15:50195220-50195370	AG09309	skin:	n/a	n/a
4	RAD21	chr15:50194132-50195453	IMR90	lung:	n/a	n/a
5	TCF12	chr15:50194069-50195719	A549	lung:	n/a	chr15:50194614-50194623

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50191318..50195002-chr15:50195338..50196955,3	MCF-7	breast:

Variant related genes	Relation type
ATP8B4	TF binding region
ENSG00000104043	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10519246	1.00[ASN][1000 genomes]
rs10519248	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101710	1.00[ASN][1000 genomes]
rs12101847	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12899404	1.00[ASN][1000 genomes]
rs12904852	1.00[ASN][1000 genomes]
rs12905192	1.00[ASN][1000 genomes]
rs12905409	1.00[ASN][1000 genomes]
rs12907398	1.00[ASN][1000 genomes]
rs12916154	1.00[ASN][1000 genomes]
rs13329614	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963056	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963064	1.00[ASN][1000 genomes]
rs16963067	1.00[ASN][1000 genomes]
rs16963076	1.00[ASN][1000 genomes]
rs16963083	1.00[ASN][1000 genomes]
rs2413979	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28406046	1.00[ASN][1000 genomes]
rs28412330	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416417	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28437808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465431	0.89[EUR][1000 genomes]
rs28502034	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28555213	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627943	1.00[ASN][1000 genomes]
rs28640908	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28649135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28669725	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687946	1.00[ASN][1000 genomes]
rs28698041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28699236	1.00[ASN][1000 genomes]
rs28756960	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28809909	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28823045	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28836239	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28837213	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28844958	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28856727	1.00[ASN][1000 genomes]
rs28861197	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28862395	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28866824	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28868411	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28874321	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28877101	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34707020	1.00[ASN][1000 genomes]
rs4407015	1.00[ASN][1000 genomes]
rs4426299	1.00[ASN][1000 genomes]
rs4491453	1.00[ASN][1000 genomes]
rs7183166	1.00[ASN][1000 genomes]
rs74012838	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74012843	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7496373	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8040270	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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
2	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
3	nsv833003	chr15:50100372-50273309	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50145600-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:50149400-50198000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:50161800-50210600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50163000-50200400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:50167600-50200800	Weak transcription	Spleen	Spleen
6	chr15:50180600-50199400	Strong transcription	Primary hematopoietic stem cells	blood
7	chr15:50182000-50199200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:50190200-50196800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr15:50190400-50200600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:50191200-50196600	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:50191200-50197000	Enhancers	Colon Smooth Muscle	Colon
12	chr15:50191200-50197000	Enhancers	Fetal Stomach	stomach
13	chr15:50191400-50196600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr15:50191400-50196800	Enhancers	Rectal Smooth Muscle	rectum
15	chr15:50191800-50196200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:50192200-50195800	Enhancers	Hela-S3	cervix
17	chr15:50192800-50197600	Enhancers	Fetal Kidney	kidney
18	chr15:50193000-50195400	Weak transcription	Brain Germinal Matrix	brain
19	chr15:50193000-50196600	Enhancers	Brain Angular Gyrus	brain
20	chr15:50193200-50196400	Enhancers	Brain Anterior Caudate	brain
21	chr15:50193200-50196600	Enhancers	Stomach Smooth Muscle	stomach
22	chr15:50193800-50196200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr15:50193800-50196400	Enhancers	Fetal Lung	lung
24	chr15:50193800-50200000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr15:50194000-50195600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:50194000-50195800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:50194000-50195800	Flanking Active TSS	NHDF-Ad	bronchial
28	chr15:50194000-50196400	Enhancers	HSMM	muscle
29	chr15:50194200-50195400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr15:50194200-50195800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:50194400-50195600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:50194400-50199000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:50194600-50195400	Weak transcription	Adipose Nuclei	Adipose
34	chr15:50194600-50195400	Weak transcription	Ovary	ovary
35	chr15:50194600-50195600	Weak transcription	Right Atrium	heart
36	chr15:50194600-50195800	Enhancers	HSMMtube	muscle
37	chr15:50194800-50195400	Enhancers	NH-A	brain
38	chr15:50194800-50195600	Flanking Active TSS	Osteobl	bone
39	chr15:50194800-50195800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:50195000-50195400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:50195000-50195400	Enhancers	Brain Hippocampus Middle	brain
42	chr15:50195000-50199800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr15:50195200-50195400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:50195200-50195400	Enhancers	Placenta	Placenta
45	chr15:50195200-50195600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr15:50195200-50195800	Enhancers	Liver	Liver
47	chr15:50195200-50195800	Enhancers	A549	lung
48	chr15:50195200-50196200	Weak transcription	Brain Substantia Nigra	brain
49	chr15:50195200-50196400	Enhancers	Fetal Muscle Leg	muscle
50	chr15:50195200-50196600	Enhancers	NHLF	lung

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