Variant report

Variant	rs768663
Chromosome Location	chr15:39997031-39997032
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56989910..56991430-chr15:39994772..39997768,2	K562	blood:
2	chr15:39979875..39982287-chr15:39997012..39999485,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10152640	0.84[GIH][hapmap]
rs10520142	0.85[EUR][1000 genomes]
rs11070231	0.86[TSI][hapmap]
rs12443011	0.83[GIH][hapmap]
rs1876852	0.81[GIH][hapmap]
rs2411300	0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs2412412	0.81[GIH][hapmap]
rs3103065	0.81[CEU][hapmap]
rs7170335	0.82[EUR][1000 genomes]
rs7171939	0.82[TSI][hapmap]
rs7176721	0.82[EUR][1000 genomes]
rs7179293	0.84[GIH][hapmap]
rs7180675	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs768663	CASC5	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39994200-39999400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:39994200-39999600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:39996200-39997400	Enhancers	K562	blood
4	chr15:39996400-39997400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr15:39996400-39997400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr15:39996600-39997200	Enhancers	H1 Cell Line	embryonic stem cell
7	chr15:39996600-39997200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:39996600-39997200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:39996600-39997400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr15:39996600-39997400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr15:39996600-39997400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr15:39996600-39997400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr15:39996600-39997400	Enhancers	NHDF-Ad	bronchial
14	chr15:39996600-39997600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:39996600-39997600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:39996600-39997600	Enhancers	Osteobl	bone
17	chr15:39996600-39997800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:39996800-39997200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:39996800-39997200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr15:39996800-39997200	Enhancers	HSMM	muscle
21	chr15:39996800-39997400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr15:39996800-39997400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr15:39997000-39997200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:39997000-40001800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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