Variant report

Variant	rs4260895
Chromosome Location	chr8:10126348-10126349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9910082..9912394-chr8:10125398..10127467,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175806	Chromatin interaction
ENSG00000260093	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10283145	1.00[CHB][hapmap]
rs11249980	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17151561	0.88[ASN][1000 genomes]
rs17709397	1.00[CHB][hapmap]
rs17765901	1.00[CHB][hapmap]
rs2009619	0.85[EUR][1000 genomes]
rs2952168	0.82[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2952172	0.90[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2952183	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2952184	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2952185	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2952186	1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2952187	0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2952189	0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs2952228	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2952251	0.82[EUR][1000 genomes]
rs2952257	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2952258	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2952262	0.82[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2975647	0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2975649	0.85[CEU][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2975653	0.82[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2975654	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs2975655	0.82[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2975662	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2975675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2975680	1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[ASN][1000 genomes]
rs2975681	0.88[ASN][1000 genomes]
rs2975682	1.00[JPT][hapmap];0.90[YRI][hapmap];0.81[ASN][1000 genomes]
rs2975683	0.84[ASN][1000 genomes]
rs4305908	0.88[ASN][1000 genomes]
rs4433149	1.00[CHB][hapmap]
rs4504639	0.88[ASN][1000 genomes]
rs4610752	1.00[CHB][hapmap]
rs4841305	0.81[YRI][hapmap]
rs6601426	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6601443	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs6601451	1.00[CHB][hapmap]
rs73534533	0.88[ASN][1000 genomes]
rs7818437	1.00[CHB][hapmap]
rs7824675	1.00[CHB][hapmap]
rs7838901	0.82[CEU][hapmap];1.00[CHB][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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10096000-10128000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:10112200-10127800	Weak transcription	Brain Hippocampus Middle	brain
3	chr8:10118200-10127800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:10118200-10128000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:10123000-10128000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:10123000-10138400	Weak transcription	Spleen	Spleen
7	chr8:10123600-10135400	Weak transcription	Fetal Intestine Small	intestine
8	chr8:10124600-10126400	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr8:10124800-10128000	Weak transcription	Fetal Brain Female	brain
10	chr8:10125000-10126400	Weak transcription	Brain Substantia Nigra	brain
11	chr8:10125000-10126600	Weak transcription	Fetal Brain Male	brain
12	chr8:10125000-10127200	Enhancers	Brain Germinal Matrix	brain
13	chr8:10125200-10127400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:10125400-10126600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:10125400-10127600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:10125400-10127800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:10125400-10129600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:10125600-10128000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr8:10125600-10128200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:10125600-10130600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:10125600-10136000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:10125800-10126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:10125800-10128000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:10125800-10129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:10126000-10127000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:10126200-10127800	Weak transcription	Colon Smooth Muscle	Colon
27	chr8:10126200-10129000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:10126200-10130000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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