Variant report

Variant	rs6757005
Chromosome Location	chr2:10910851-10910852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10899966..10902229-chr2:10910282..10913116,3	MCF-7	breast:
2	chr2:10841033..10842892-chr2:10910211..10912703,2	MCF-7	breast:
3	chr2:10910785..10912967-chr2:10915841..10919441,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143882	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11678994	0.89[ASN][1000 genomes]
rs1198842	0.85[ASN][1000 genomes]
rs1198843	0.90[ASN][1000 genomes]
rs1198848	0.90[ASN][1000 genomes]
rs1198849	0.82[CHB][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.91[ASN][1000 genomes]
rs12464402	0.87[YRI][hapmap]
rs12611921	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1387572	0.93[ASN][1000 genomes]
rs1734413	0.93[ASN][1000 genomes]
rs2171773	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57127376	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs902130	0.95[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][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	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6757005	CMPK2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10903400-10914400	Weak transcription	Right Atrium	heart
2	chr2:10903600-10914400	Weak transcription	Gastric	stomach
3	chr2:10904200-10916400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:10904600-10916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:10904800-10915200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:10905600-10918000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:10906000-10914200	Weak transcription	Esophagus	oesophagus
8	chr2:10906200-10918200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:10906200-10918400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10906400-10912200	Weak transcription	Placenta	Placenta
11	chr2:10906400-10913000	Weak transcription	Fetal Intestine Small	intestine
12	chr2:10908000-10918200	Weak transcription	Pancreas	Pancrea
13	chr2:10908000-10918400	Weak transcription	Aorta	Aorta
14	chr2:10908600-10924400	Weak transcription	Psoas Muscle	Psoas
15	chr2:10908800-10917400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:10908800-10918200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:10909000-10913400	Weak transcription	Hela-S3	cervix
18	chr2:10909200-10914800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:10909400-10911400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10909400-10911800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:10909400-10914200	Weak transcription	Right Ventricle	heart
22	chr2:10910800-10917200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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