Variant report

Variant	rs16972714
Chromosome Location	chr15:75088023-75088024
allele	C/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	POLR2A	chr15:75086144-75088068	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:75087797-75088061	K562	blood:	n/a	n/a
3	POLR2A	chr15:75087766-75088162	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75085754..75088425-chr15:75092010..75094083,2	MCF-7	breast:
2	chr15:75086825..75088455-chr15:75228653..75231420,2	K562	blood:

Variant related genes	Relation type
CSK	TF binding region
ENSG00000103653	Chromatin interaction
ENSG00000178741	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11853859	1.00[CEU][hapmap]
rs12439525	0.86[AMR][1000 genomes]
rs12439944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12441444	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12443172	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12593213	1.00[CEU][hapmap]
rs12593251	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs12594158	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1531162	0.84[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1531163	0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2229730	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28397782	0.92[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28431073	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28577988	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28583379	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2899827	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3743484	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs3743486	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3803568	0.92[CHB][hapmap];0.83[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3825943	1.00[CEU][hapmap]
rs4886409	0.86[AMR][1000 genomes]
rs4886620	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7497749	1.00[CEU][hapmap]
rs8039046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9796628	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75077800-75092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:75079400-75093800	Weak transcription	Aorta	Aorta
3	chr15:75080800-75088600	Enhancers	Stomach Mucosa	stomach
4	chr15:75081200-75091400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:75081800-75092000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr15:75081800-75092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:75082200-75092200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:75082400-75098400	Weak transcription	Fetal Kidney	kidney
9	chr15:75082600-75088400	Genic enhancers	Fetal Thymus	thymus
10	chr15:75082600-75090400	Weak transcription	HepG2	liver
11	chr15:75082600-75093200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:75083000-75089800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr15:75083000-75090400	Weak transcription	Dnd41	blood
14	chr15:75083000-75092000	Weak transcription	Hela-S3	cervix
15	chr15:75083000-75093000	Weak transcription	HUVEC	blood vessel
16	chr15:75083200-75090400	Weak transcription	Fetal Brain Female	brain
17	chr15:75083200-75091800	Weak transcription	A549	lung
18	chr15:75083200-75092400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:75083200-75093600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr15:75083400-75090600	Weak transcription	Fetal Lung	lung
21	chr15:75083800-75091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr15:75084400-75093200	Genic enhancers	Primary B cells from cord blood	blood
23	chr15:75084400-75094600	Weak transcription	HSMMtube	muscle
24	chr15:75084800-75091000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:75085200-75090600	Weak transcription	Psoas Muscle	Psoas
26	chr15:75085200-75091400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:75085400-75088200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:75085600-75091800	Weak transcription	NHDF-Ad	bronchial
29	chr15:75085800-75088400	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:75085800-75088600	Enhancers	NHEK	skin
31	chr15:75085800-75089200	Enhancers	Duodenum Mucosa	Duodenum
32	chr15:75085800-75090200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr15:75085800-75091800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr15:75085800-75091800	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:75085800-75093200	Weak transcription	Ovary	ovary
36	chr15:75086000-75088400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr15:75086000-75089200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr15:75086000-75090000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:75086000-75090200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:75086000-75090200	Weak transcription	Colonic Mucosa	Colon
41	chr15:75086000-75090200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr15:75086000-75090400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr15:75086000-75090400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:75086000-75090400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr15:75086000-75090600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:75086000-75090600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr15:75086000-75090600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:75086000-75090800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:75086000-75091400	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:75086000-75091600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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