Variant report

Variant	rs7597360
Chromosome Location	chr2:56241297-56241298
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	chr2:56212547..56214405-chr2:56239405..56242295,2	K562	blood:
2	chr2:56240005..56242551-chr2:56253553..56255982,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10171335	1.00[ASN][1000 genomes]
rs10194204	1.00[ASN][1000 genomes]
rs10194401	1.00[ASN][1000 genomes]
rs10200414	1.00[ASN][1000 genomes]
rs10206522	1.00[ASN][1000 genomes]
rs10206619	1.00[ASN][1000 genomes]
rs10210936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686318	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11693755	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886020	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12713312	1.00[ASN][1000 genomes]
rs12713313	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713314	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991457	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13029542	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13398053	1.00[ASN][1000 genomes]
rs13399945	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13410155	1.00[ASN][1000 genomes]
rs13431392	1.00[ASN][1000 genomes]
rs13432828	1.00[ASN][1000 genomes]
rs1347093	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1835897	1.00[ASN][1000 genomes]
rs2043258	0.97[AFR][1000 genomes]
rs2868992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561537	1.00[ASN][1000 genomes]
rs4553860	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545539	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6724635	1.00[ASN][1000 genomes]
rs6724872	1.00[ASN][1000 genomes]
rs6741589	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745615	1.00[ASN][1000 genomes]
rs6756818	1.00[ASN][1000 genomes]
rs7557630	1.00[ASN][1000 genomes]
rs7587002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601814	1.00[ASN][1000 genomes]
rs9967780	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv9813	chr2:56237501-56243601	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7597360	C2orf63	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56234800-56242800	Enhancers	HUVEC	blood vessel
2	chr2:56236400-56242800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:56236600-56245000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:56236800-56242800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:56237000-56242600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:56237000-56242800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:56237000-56243000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:56237000-56243000	Weak transcription	Osteobl	bone
9	chr2:56237600-56245400	Weak transcription	Brain Germinal Matrix	brain
10	chr2:56238600-56242800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:56238600-56242800	Weak transcription	Pancreas	Pancrea
12	chr2:56238600-56244800	Weak transcription	Hela-S3	cervix
13	chr2:56239600-56242000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:56239800-56242800	Weak transcription	A549	lung
15	chr2:56240800-56242600	Enhancers	Adipose Nuclei	Adipose
16	chr2:56241000-56241400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:56241000-56241400	Enhancers	Fetal Brain Female	brain
18	chr2:56241000-56241800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:56241200-56241400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:56241200-56241400	Enhancers	Small Intestine	intestine
21	chr2:56241200-56241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:56241200-56241600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:56241200-56241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:56241200-56241600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:56241200-56241800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:56241200-56241800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:56241200-56241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:56241200-56241800	Enhancers	Fetal Lung	lung
29	chr2:56241200-56243200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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