Variant report

Variant	rs907593
Chromosome Location	chr15:77196953-77196954
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77196909..77199186-chr15:77360659..77363469,2	K562	blood:
2	chr15:77196194..77198493-chr15:77235491..77237833,2	K562	blood:
3	chr15:77195708..77198409-chr15:77360659..77363583,2	K562	blood:
4	chr15:77196272..77198559-chr15:77223364..77225357,2	K562	blood:
5	chr15:77196182..77198169-chr15:77222869..77226186,3	K562	blood:
6	chr15:77195051..77197848-chr15:77221697..77224553,2	MCF-7	breast:
7	chr15:77195486..77197689-chr15:77712877..77715018,2	K562	blood:
8	chr15:77194744..77199863-chr15:77220881..77225601,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269951	Chromatin interaction
ENSG00000140382	Chromatin interaction
ENSG00000140391	Chromatin interaction
ENSG00000117906	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1011083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10851889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs10851892	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11072619	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap]
rs11072625	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap]
rs11072626	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11072631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11072632	0.82[CHB][hapmap]
rs11072636	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072637	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11633869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap]
rs11634266	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11634428	0.83[CEU][hapmap];0.90[CHB][hapmap]
rs11635584	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637296	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11852395	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap]
rs11855296	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap]
rs11855534	0.95[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs12050866	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12439141	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12898416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12903331	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12903586	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12904149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12909065	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12913024	0.80[AFR][1000 genomes]
rs1443115	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1484990	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs1567671	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280194	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2404600	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34450864	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35940181	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3764245	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3812908	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3812909	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4312276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs4886506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4886837	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.93[TSI][hapmap]
rs4886840	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886842	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55817928	0.87[ASN][1000 genomes]
rs56275930	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495224	0.89[ASN][1000 genomes]
rs7178250	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8025991	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs907594	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs920712	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs9635380	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap]
rs9707794	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv1803942	chr15:77151005-77210457	Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs907593	SCAPER	cis	Skin Sun Exposed Lower leg	GTEx
rs907593	SCAPER	cis	cerebellum	SCAN
rs907593	SCAPER	cis	Whole Blood	GTEx
rs907593	ZNF291	cis	lesional skin	skin_eQTL
rs907593	SCAPER	cis	lymphoblastoid	seeQTL
rs907593	SCAPER	Cis_1M	lymphoblastoid	RTeQTL
rs907593	ISL2	cis	lymphoblastoid	seeQTL
rs907593	SCAPER	cis	Esophagus Muscularis	GTEx
rs907593	SCAPER	cis	lung	GTEx
rs907593	SCAPER	cis	Nerve Tibial	GTEx
rs907593	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs907593	SCAPER	cis	Adipose Subcutaneous	GTEx
rs907593	SCAPER	cis	Muscle Skeletal	GTEx
rs907593	NRG4	cis	parietal	SCAN
rs907593	TBC1D2B	cis	parietal	SCAN
rs907593	SCAPER	cis	Thyroid	GTEx
rs907593	ZNF291	cis	uninvolved skin	skin_eQTL
rs907593	SCAPER	cis	Artery Tibial	GTEx
rs907593	SCAPER	cis	Esophagus Mucosa	GTEx
rs907593	SCAPER	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77194800-77197400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:77195400-77197200	Flanking Active TSS	Liver	Liver
3	chr15:77195400-77198600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:77195800-77197000	Enhancers	Small Intestine	intestine
5	chr15:77195800-77197200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr15:77196000-77197000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr15:77196000-77197200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr15:77196000-77197200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr15:77196000-77197200	Flanking Active TSS	GM12878-XiMat	blood
10	chr15:77196200-77197200	Flanking Active TSS	Dnd41	blood
11	chr15:77196200-77198200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:77196400-77197000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:77196400-77197000	Flanking Active TSS	Brain Angular Gyrus	brain
14	chr15:77196400-77197200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:77196400-77197200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr15:77196400-77197200	Flanking Active TSS	Fetal Lung	lung
17	chr15:77196400-77197200	Flanking Active TSS	Fetal Thymus	thymus
18	chr15:77196400-77197200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr15:77196400-77197200	Flanking Active TSS	NHEK	skin
20	chr15:77196400-77197400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr15:77196400-77197600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:77196400-77197800	Active TSS	Fetal Brain Male	brain
23	chr15:77196400-77198000	Active TSS	Stomach Smooth Muscle	stomach
24	chr15:77196400-77198200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:77196400-77198200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:77196600-77197000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr15:77196600-77197000	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr15:77196600-77197000	Flanking Active TSS	A549	lung
29	chr15:77196600-77197200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr15:77196600-77197200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr15:77196600-77197200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr15:77196600-77197200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr15:77196600-77197200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:77196600-77197200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:77196600-77197200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr15:77196600-77197200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr15:77196600-77197200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:77196600-77197200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:77196600-77197200	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr15:77196600-77197200	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr15:77196600-77197200	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr15:77196600-77197200	Flanking Active TSS	Placenta	Placenta
43	chr15:77196600-77197200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr15:77196600-77197200	Flanking Active TSS	Hela-S3	cervix
45	chr15:77196600-77197200	Flanking Active TSS	HMEC	breast
46	chr15:77196600-77197400	Active TSS	Brain Germinal Matrix	brain
47	chr15:77196600-77198000	Active TSS	Fetal Intestine Small	intestine
48	chr15:77196600-77198000	Active TSS	Fetal Stomach	stomach
49	chr15:77196600-77198200	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr15:77196600-77198200	Active TSS	Brain Substantia Nigra	brain

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