Variant report

Variant	rs12593213
Chromosome Location	chr15:75063202-75063203
allele	A/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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75062932..75063974-chr15:75109427..75110335,6	MCF-7	breast:
2	chr15:74927591..74928231-chr15:75063093..75064062,2	K562	blood:
3	chr15:75061714..75065079-chr15:75242940..75246213,4	K562	blood:
4	chr15:74924667..74926194-chr15:75061014..75063397,2	MCF-7	breast:
5	chr15:75063133..75064034-chr15:75280031..75281063,7	MCF-7	breast:
6	chr15:75062864..75064089-chr15:75127326..75128265,6	MCF-7	breast:
7	chr15:75063123..75064077-chr15:75092197..75093121,7	MCF-7	breast:
8	chr15:75063074..75064612-chr15:75092202..75093350,14	K562	blood:
9	chr15:75062956..75068550-chr15:75133333..75136759,7	MCF-7	breast:
10	chr15:74933224..74935053-chr15:75061299..75063816,2	MCF-7	breast:
11	chr15:74667265..74667860-chr15:75063172..75064014,2	K562	blood:
12	chr15:75063099..75065381-chr15:75123543..75126065,2	MCF-7	breast:
13	chr15:75063121..75064065-chr15:75242418..75243333,5	K562	blood:
14	chr15:75063049..75063972-chr15:75109525..75110306,2	MCF-7	breast:
15	chr15:75062285..75064487-chr15:75119811..75122200,2	K562	blood:
16	chr15:75051545..75054051-chr15:75061447..75064196,2	K562	blood:
17	chr15:75052551..75054172-chr15:75062525..75064196,2	K562	blood:
18	chr15:74921154..74924652-chr15:75061303..75063546,3	K562	blood:
19	chr15:75063135..75063986-chr15:75280277..75280997,2	MCF-7	breast:
20	chr15:75062011..75065079-chr15:75241934..75244440,3	K562	blood:
21	chr15:74926309..74927880-chr15:75061284..75064051,2	MCF-7	breast:
22	chr15:75062932..75063974-chr15:75109427..75110288,5	MCF-7	breast:
23	chr15:74665952..74666781-chr15:75062636..75063591,2	MCF-7	breast:
24	chr15:74926605..74928994-chr15:75060559..75063448,5	MCF-7	breast:
25	chr15:75063124..75064142-chr15:75073395..75074345,3	K562	blood:
26	chr15:75062865..75065750-chr15:75072309..75074683,2	K562	blood:
27	chr15:75063149..75063659-chr15:75242583..75243102,2	MCF-7	breast:
28	chr15:75063007..75064163-chr15:75091586..75093210,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179335	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000179151	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11072501	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11631198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636419	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11637770	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11853859	1.00[CEU][hapmap]
rs12439944	1.00[CEU][hapmap]
rs12593233	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593251	1.00[CEU][hapmap]
rs12593808	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16972714	1.00[CEU][hapmap]
rs17861162	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3743484	1.00[CEU][hapmap]
rs3825943	1.00[CEU][hapmap]
rs56931723	0.82[EUR][1000 genomes]
rs58806801	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74025834	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74025836	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs74025838	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74025840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7497749	1.00[CEU][hapmap]

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:60 , 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	chr15:75061200-75063400	Weak transcription	Brain Substantia Nigra	brain
4	chr15:75061400-75063400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr15:75061400-75063400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:75061400-75063400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr15:75061400-75063400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:75061400-75063400	Weak transcription	Thymus	Thymus
9	chr15:75061400-75063400	Weak transcription	Dnd41	blood
10	chr15:75061400-75063400	Weak transcription	HMEC	breast
11	chr15:75061400-75064000	Weak transcription	HUVEC	blood vessel
12	chr15:75061400-75064200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr15:75061400-75065600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:75061400-75069000	Weak transcription	Liver	Liver
15	chr15:75061600-75063400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:75061800-75063400	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:75062400-75063600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr15:75062400-75063800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:75062600-75063800	Strong transcription	Right Atrium	heart
20	chr15:75062600-75063800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:75062800-75064600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:75062800-75069200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr15:75063000-75063400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr15:75063000-75063400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr15:75063000-75063400	Bivalent Enhancer	Fetal Brain Male	brain
26	chr15:75063000-75063600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr15:75063000-75063800	Enhancers	Fetal Heart	heart
28	chr15:75063000-75064400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:75063000-75066800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:75063200-75063400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:75063200-75063400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr15:75063200-75063400	Enhancers	Spleen	Spleen
33	chr15:75063200-75063400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
34	chr15:75063200-75063600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
35	chr15:75063200-75063600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:75063200-75063600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:75063200-75063600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:75063200-75063600	Enhancers	Right Ventricle	heart
39	chr15:75063200-75063600	Flanking Active TSS	HepG2	liver
40	chr15:75063200-75064000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr15:75063200-75064200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr15:75063200-75064400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr15:75063200-75064400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr15:75063200-75064400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr15:75063200-75064400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr15:75063200-75064400	Enhancers	GM12878-XiMat	blood
47	chr15:75063200-75064600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:75063200-75064600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr15:75063200-75064600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:75063200-75064600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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