Variant report

Variant	rs434264
Chromosome Location	chr8:90810122-90810123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90769811..90771735-chr8:90809969..90812627,2	MCF-7	breast:
2	chr8:90801418..90803391-chr8:90808526..90811319,2	MCF-7	breast:
3	chr8:90808879..90811361-chr8:90813296..90815805,3	K562	blood:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11776336	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11995005	0.82[CHB][hapmap]
rs12156013	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13254219	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13274635	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16900429	0.92[YRI][hapmap]
rs218935	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs218938	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs370282	0.83[CEU][hapmap]
rs383592	0.92[CEU][hapmap]
rs39501	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39502	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39508	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs39509	0.90[CEU][hapmap]
rs39511	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39512	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs397540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39762	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs39766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs398701	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40247	0.86[CEU][hapmap]
rs40248	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40378	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40380	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40453	0.89[CEU][hapmap]
rs40454	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs40547	0.83[CEU][hapmap]
rs40635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40638	0.85[CEU][hapmap]
rs406680	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411279	0.89[CEU][hapmap]
rs411310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs416324	0.92[CEU][hapmap]
rs42343	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs42346	0.85[CEU][hapmap]
rs42479	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42480	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425721	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs426779	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs428484	1.00[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs43133	0.90[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs450332	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs51331	0.90[CEU][hapmap]
rs7815039	0.88[AMR][1000 genomes];0.93[EUR][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	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
2	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv891182	chr8:90785685-90888786	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
3	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
5	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:90799400-90810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:90799400-90814000	Weak transcription	Gastric	stomach
8	chr8:90799800-90811800	Weak transcription	Fetal Kidney	kidney
9	chr8:90802600-90810200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:90802600-90814200	Weak transcription	K562	blood
11	chr8:90803000-90811000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:90803000-90813400	Weak transcription	Hela-S3	cervix
13	chr8:90803200-90810400	Weak transcription	Colonic Mucosa	Colon
14	chr8:90803600-90810400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:90803600-90811200	Weak transcription	Primary T cells from cord blood	blood
16	chr8:90803600-90813800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:90805400-90817000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:90806200-90814000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:90806400-90810200	Weak transcription	Placenta	Placenta
20	chr8:90806400-90811600	Weak transcription	Liver	Liver
21	chr8:90806400-90814000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:90806600-90811200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr8:90807000-90812600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:90807200-90811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:90808000-90810600	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:90808000-90814000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:90808200-90812000	Enhancers	Osteobl	bone
28	chr8:90808400-90810200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:90808400-90810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:90808400-90810400	Enhancers	NHLF	lung
31	chr8:90808400-90810600	Enhancers	HMEC	breast
32	chr8:90808400-90810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:90808400-90812000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:90808400-90812000	Enhancers	NHDF-Ad	bronchial
35	chr8:90808800-90813800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr8:90809000-90810400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:90809400-90810200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:90809600-90811000	ZNF genes & repeats	Fetal Intestine Small	intestine
39	chr8:90809800-90810400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:90809800-90811600	Enhancers	HepG2	liver
41	chr8:90809800-90813400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:90810000-90810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:90810000-90811000	Weak transcription	Stomach Mucosa	stomach
44	chr8:90810000-90811600	Enhancers	A549	lung
45	chr8:90810000-90813000	Weak transcription	NHEK	skin
46	chr8:90810000-90813200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:90810000-90813400	Weak transcription	NH-A	brain
48	chr8:90810000-90813800	Weak transcription	HSMM	muscle

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