Variant report

Variant	rs398701
Chromosome Location	chr8:90806732-90806733
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90800083..90802743-chr8:90803621..90807196,3	MCF-7	breast:
2	chr8:90767178..90772166-chr8:90803183..90807118,5	MCF-7	breast:
3	chr8:90806351..90809015-chr8:90995258..90997957,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction
ENSG00000104320	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12156013	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13254219	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13274635	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218935	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs218938	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs39501	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39502	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39508	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs39511	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39512	0.84[EUR][1000 genomes]
rs397540	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs39762	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39763	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs39766	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs40248	0.82[EUR][1000 genomes]
rs40378	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40379	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40380	0.82[EUR][1000 genomes]
rs40454	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs40635	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs406680	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs411310	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs42343	0.91[EUR][1000 genomes]
rs42479	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42480	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs425721	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs426779	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs428484	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs43133	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434264	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs450332	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7815039	0.85[EUR][1000 genomes];0.89[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	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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
2	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
3	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
7	chr8:90785600-90813800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:90785800-90807200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:90785800-90810800	Weak transcription	Fetal Brain Female	brain
10	chr8:90786000-90813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:90786400-90809800	Weak transcription	HepG2	liver
12	chr8:90795000-90808400	Weak transcription	NHEK	skin
13	chr8:90796200-90807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:90797200-90808400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr8:90799400-90810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:90799400-90814000	Weak transcription	Gastric	stomach
17	chr8:90799800-90811800	Weak transcription	Fetal Kidney	kidney
18	chr8:90800000-90808400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:90801000-90808000	Weak transcription	Fetal Stomach	stomach
20	chr8:90801000-90809600	Weak transcription	Fetal Intestine Small	intestine
21	chr8:90801200-90809800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:90802400-90808000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr8:90802600-90807000	Weak transcription	Fetal Lung	lung
24	chr8:90802600-90807000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:90802600-90807600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:90802600-90808400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:90802600-90808400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:90802600-90808400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:90802600-90809200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:90802600-90809600	Weak transcription	Brain Substantia Nigra	brain
31	chr8:90802600-90810200	Weak transcription	Fetal Intestine Large	intestine
32	chr8:90802600-90814200	Weak transcription	K562	blood
33	chr8:90802800-90807800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:90803000-90807000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:90803000-90807400	Weak transcription	Colon Smooth Muscle	Colon
36	chr8:90803000-90807800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:90803000-90808400	Weak transcription	HMEC	breast
38	chr8:90803000-90808400	Weak transcription	HUVEC	blood vessel
39	chr8:90803000-90808400	Weak transcription	NHLF	lung
40	chr8:90803000-90811000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr8:90803000-90813400	Weak transcription	Hela-S3	cervix
42	chr8:90803200-90808400	Weak transcription	NH-A	brain
43	chr8:90803200-90810400	Weak transcription	Colonic Mucosa	Colon
44	chr8:90803600-90810400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:90803600-90811200	Weak transcription	Primary T cells from cord blood	blood
46	chr8:90803600-90813800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:90804200-90807000	Weak transcription	A549	lung
48	chr8:90804200-90808000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:90804200-90808400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:90804400-90808000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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