Variant report

Variant	rs2975649
Chromosome Location	chr8:10135940-10135941
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: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11249980	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151637	0.88[GIH][hapmap]
rs2009619	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2952168	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952172	0.93[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2952176	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2952183	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs2952184	0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs2952186	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs2952187	0.86[AFR][1000 genomes]
rs2952228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2952251	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2952254	0.81[CEU][hapmap]
rs2952257	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952258	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2952262	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2975635	0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2975647	0.86[ASW][hapmap];0.89[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2975648	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap];0.99[ASN][1000 genomes]
rs2975653	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2975654	0.93[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.97[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap]
rs2975655	1.00[CEU][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2975662	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2975675	0.82[AFR][1000 genomes]
rs2975680	0.92[YRI][hapmap]
rs2975682	0.89[YRI][hapmap]
rs4260895	0.85[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4841305	0.85[YRI][hapmap]
rs56220175	0.82[ASN][1000 genomes]
rs61456761	0.81[ASN][1000 genomes]
rs6601426	0.92[YRI][hapmap];0.88[AFR][1000 genomes]
rs67455183	0.80[ASN][1000 genomes]
rs7818437	0.81[CEU][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

No data

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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