Variant report

Variant	rs2975648
Chromosome Location	chr8:10135976-10135977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10120963..10123282-chr8:10135840..10137757,2	K562	blood:
2	chr8:10130155..10132980-chr8:10133293..10136060,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2009619	0.84[ASN][1000 genomes]
rs2952168	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2952172	0.89[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs2952176	0.83[ASN][1000 genomes]
rs2952205	0.83[EUR][1000 genomes]
rs2952228	0.94[ASN][1000 genomes]
rs2952251	0.83[ASN][1000 genomes]
rs2952257	0.97[ASN][1000 genomes]
rs2952258	0.98[ASN][1000 genomes]
rs2952262	0.94[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2975635	0.89[CHB][hapmap];0.84[ASN][1000 genomes]
rs2975647	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2975649	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs2975653	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs2975654	0.88[JPT][hapmap]
rs2975655	0.82[JPT][hapmap]
rs2975662	0.81[ASN][1000 genomes]
rs4841317	0.82[EUR][1000 genomes]
rs56220175	0.81[ASN][1000 genomes]
rs6601427	0.88[CEU][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7832708	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1026335	chr8:10037279-10139782	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2975648	CTSB	cis	cerebellum	SCAN
rs2975648	DEFB134	cis	cerebellum	SCAN
rs2975648	TDH	cis	cerebellum	SCAN
rs2975648	FLJ10661	cis	cerebellum	SCAN
rs2975648	MFHAS1	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
2	chr8:10125600-10136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:10128200-10137000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:10128400-10138200	Weak transcription	Fetal Brain Female	brain
5	chr8:10130400-10144200	Weak transcription	Liver	Liver
6	chr8:10130600-10137600	Weak transcription	Primary T cells from cord blood	blood
7	chr8:10133800-10136800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:10133800-10139000	Weak transcription	Fetal Brain Male	brain
9	chr8:10134200-10136200	Enhancers	Brain Germinal Matrix	brain
10	chr8:10134200-10147600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:10135000-10137000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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