Variant report

Variant	rs12593251
Chromosome Location	chr15:75063533-75063534
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75062932..75063974-chr15:75109427..75110335,6	MCF-7	breast:
2	chr15:75063283..75067975-chr15:75109233..75113882,6	MCF-7	breast:
3	chr15:74927591..74928231-chr15:75063093..75064062,2	K562	blood:
4	chr15:75061714..75065079-chr15:75242940..75246213,4	K562	blood:
5	chr15:75063364..75063990-chr15:75109881..75110560,2	MCF-7	breast:
6	chr15:75063133..75064034-chr15:75280031..75281063,7	MCF-7	breast:
7	chr15:75062864..75064089-chr15:75127326..75128265,6	MCF-7	breast:
8	chr15:75063123..75064077-chr15:75092197..75093121,7	MCF-7	breast:
9	chr15:75063074..75064612-chr15:75092202..75093350,14	K562	blood:
10	chr15:75062956..75068550-chr15:75133333..75136759,7	MCF-7	breast:
11	chr15:74906881..74908698-chr15:75063304..75065270,2	MCF-7	breast:
12	chr15:74933224..74935053-chr15:75061299..75063816,2	MCF-7	breast:
13	chr15:75063446..75064012-chr15:75085580..75086332,2	MCF-7	breast:
14	chr15:74667265..74667860-chr15:75063172..75064014,2	K562	blood:
15	chr15:75063523..75065570-chr15:75194170..75196593,2	MCF-7	breast:
16	chr15:75063099..75065381-chr15:75123543..75126065,2	MCF-7	breast:
17	chr15:75063121..75064065-chr15:75242418..75243333,5	K562	blood:
18	chr15:75063049..75063972-chr15:75109525..75110306,2	MCF-7	breast:
19	chr15:75062285..75064487-chr15:75119811..75122200,2	K562	blood:
20	chr15:75051545..75054051-chr15:75061447..75064196,2	K562	blood:
21	chr15:75052551..75054172-chr15:75062525..75064196,2	K562	blood:
22	chr15:74921154..74924652-chr15:75061303..75063546,3	K562	blood:
23	chr15:75063457..75064044-chr15:75132063..75132629,2	K562	blood:
24	chr15:75063135..75063986-chr15:75280277..75280997,2	MCF-7	breast:
25	chr15:75062011..75065079-chr15:75241934..75244440,3	K562	blood:
26	chr15:74926309..74927880-chr15:75061284..75064051,2	MCF-7	breast:
27	chr15:75062932..75063974-chr15:75109427..75110288,5	MCF-7	breast:
28	chr15:74665952..74666781-chr15:75062636..75063591,2	MCF-7	breast:
29	chr15:75063124..75064142-chr15:75073395..75074345,3	K562	blood:
30	chr15:75062865..75065750-chr15:75072309..75074683,2	K562	blood:
31	chr15:75063149..75063659-chr15:75242583..75243102,2	MCF-7	breast:
32	chr15:75063007..75064163-chr15:75091586..75093210,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260919	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000179335	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]
rs12439944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12441444	0.91[ASN][1000 genomes]
rs12443172	0.88[ASN][1000 genomes]
rs12593213	1.00[CEU][hapmap]
rs12594158	0.89[ASN][1000 genomes]
rs1531162	0.82[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1531163	0.92[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs16972714	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs2069520	0.88[AMR][1000 genomes]
rs2229730	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs28397782	0.92[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs28431073	0.89[ASN][1000 genomes]
rs28577988	0.89[ASN][1000 genomes]
rs28583379	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2899827	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs3743484	1.00[CEU][hapmap];0.88[AMR][1000 genomes]
rs3743486	0.92[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs3803568	0.92[CHB][hapmap];0.89[ASN][1000 genomes]
rs3825943	1.00[CEU][hapmap]
rs4886620	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs55711332	0.82[AMR][1000 genomes]
rs7497749	1.00[CEU][hapmap]
rs8039046	1.00[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs9796628	0.92[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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75055600-75065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75056000-75069000	Weak transcription	Lung	lung
3	chr15:75061400-75064000	Weak transcription	HUVEC	blood vessel
4	chr15:75061400-75064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:75061400-75065600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr15:75061400-75069000	Weak transcription	Liver	Liver
7	chr15:75062400-75063600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr15:75062400-75063800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:75062600-75063800	Strong transcription	Right Atrium	heart
10	chr15:75062600-75063800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr15:75062800-75064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:75062800-75069200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr15:75063000-75063600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr15:75063000-75063800	Enhancers	Fetal Heart	heart
15	chr15:75063000-75064400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:75063000-75066800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:75063200-75063600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr15:75063200-75063600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:75063200-75063600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:75063200-75063600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr15:75063200-75063600	Enhancers	Right Ventricle	heart
22	chr15:75063200-75063600	Flanking Active TSS	HepG2	liver
23	chr15:75063200-75064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr15:75063200-75064200	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:75063200-75064400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:75063200-75064400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr15:75063200-75064400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr15:75063200-75064400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr15:75063200-75064400	Enhancers	GM12878-XiMat	blood
30	chr15:75063200-75064600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr15:75063200-75064600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:75063200-75064600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:75063200-75064600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:75063200-75064600	Bivalent Enhancer	Placenta	Placenta
35	chr15:75063200-75064600	Enhancers	Fetal Thymus	thymus
36	chr15:75063200-75064800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr15:75063200-75064800	Enhancers	Brain Anterior Caudate	brain
38	chr15:75063200-75066800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:75063200-75066800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:75063200-75066800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr15:75063200-75067400	Enhancers	Primary B cells from cord blood	blood
42	chr15:75063200-75069400	Enhancers	Primary B cells from peripheral blood	blood
43	chr15:75063200-75069400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr15:75063400-75063600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:75063400-75063600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr15:75063400-75063600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:75063400-75063600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:75063400-75063600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:75063400-75063600	Enhancers	Brain Hippocampus Middle	brain
50	chr15:75063400-75063600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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