Variant report

Variant	rs56748048
Chromosome Location	chr15:75064992-75064993
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:75063283..75067975-chr15:75109233..75113882,6	MCF-7	breast:
2	chr15:75061714..75065079-chr15:75242940..75246213,4	K562	blood:
3	chr15:75064340..75065920-chr15:75077718..75079828,2	MCF-7	breast:
4	chr15:75062956..75068550-chr15:75133333..75136759,7	MCF-7	breast:
5	chr15:74906881..74908698-chr15:75063304..75065270,2	MCF-7	breast:
6	chr15:75063523..75065570-chr15:75194170..75196593,2	MCF-7	breast:
7	chr15:75063099..75065381-chr15:75123543..75126065,2	MCF-7	breast:
8	chr15:75062011..75065079-chr15:75241934..75244440,3	K562	blood:
9	chr15:75063951..75065654-chr15:75182118..75184747,3	MCF-7	breast:
10	chr15:75062865..75065750-chr15:75072309..75074683,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000178802	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000140474	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000103653	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11553762	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11631294	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11631682	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631689	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631817	0.90[ASN][1000 genomes]
rs11632547	0.95[ASN][1000 genomes]
rs11632706	0.93[ASN][1000 genomes]
rs11632814	0.93[ASN][1000 genomes]
rs11632822	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11633539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633861	0.93[ASN][1000 genomes]
rs11636256	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637637	0.90[ASN][1000 genomes]
rs16972511	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16972853	0.90[ASN][1000 genomes]
rs17861124	0.93[ASN][1000 genomes]
rs17861125	0.93[ASN][1000 genomes]
rs17861130	0.90[ASN][1000 genomes]
rs17861138	0.93[ASN][1000 genomes]
rs17861139	0.93[ASN][1000 genomes]
rs17861141	0.90[ASN][1000 genomes]
rs17861142	0.93[ASN][1000 genomes]
rs17861145	0.93[ASN][1000 genomes]
rs2069519	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2069521	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2069522	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2069524	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2069525	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2069526	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35197434	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35331038	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35408600	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35603757	1.00[AFR][1000 genomes]
rs35738366	1.00[AFR][1000 genomes]
rs4646425	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4646427	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs56066141	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59902765	0.90[ASN][1000 genomes]
rs61671857	0.85[AFR][1000 genomes]
rs74025837	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74025839	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs74025842	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74025843	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74025847	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs74025850	0.85[AFR][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:75 , 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	chr15:75061400-75065600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:75061400-75069000	Weak transcription	Liver	Liver
5	chr15:75062800-75069200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr15:75063000-75066800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:75063200-75066800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:75063200-75066800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:75063200-75066800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:75063200-75067400	Enhancers	Primary B cells from cord blood	blood
11	chr15:75063200-75069400	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:75063200-75069400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:75063400-75065000	Enhancers	Brain Angular Gyrus	brain
14	chr15:75063400-75065400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:75063400-75065400	Enhancers	Brain Substantia Nigra	brain
16	chr15:75063400-75067600	Weak transcription	Spleen	Spleen
17	chr15:75063400-75068000	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:75063400-75069400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr15:75063600-75065400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr15:75063600-75065600	Weak transcription	Fetal Intestine Small	intestine
21	chr15:75063600-75067800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr15:75063600-75069000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr15:75063800-75067600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:75063800-75069000	Weak transcription	Fetal Heart	heart
25	chr15:75063800-75069000	Weak transcription	Right Atrium	heart
26	chr15:75064000-75065800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:75064000-75065800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:75064000-75066000	Weak transcription	NHEK	skin
29	chr15:75064000-75066200	Enhancers	Esophagus	oesophagus
30	chr15:75064000-75066400	Enhancers	Colonic Mucosa	Colon
31	chr15:75064000-75069400	Weak transcription	Fetal Brain Male	brain
32	chr15:75064200-75065600	Weak transcription	Small Intestine	intestine
33	chr15:75064200-75065800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:75064200-75066000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:75064200-75066000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:75064200-75066600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr15:75064200-75067400	Weak transcription	Thymus	Thymus
38	chr15:75064400-75065200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr15:75064400-75065400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr15:75064400-75065400	Weak transcription	Primary T cells from cord blood	blood
41	chr15:75064400-75065400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr15:75064400-75065400	Weak transcription	GM12878-XiMat	blood
43	chr15:75064400-75065600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:75064400-75065600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr15:75064400-75065600	Enhancers	HepG2	liver
46	chr15:75064400-75065800	Weak transcription	HMEC	breast
47	chr15:75064400-75066000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr15:75064400-75066200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:75064400-75066400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr15:75064400-75068000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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