Variant report

Variant	rs40378
Chromosome Location	chr8:90787618-90787619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90768573..90771936-chr8:90785165..90788637,7	MCF-7	breast:
2	chr8:90787120..90788718-chr8:90790537..90792123,2	K562	blood:
3	chr8:90776459..90778873-chr8:90786925..90789865,2	K562	blood:
4	chr8:90783485..90785142-chr8:90786995..90789489,2	K562	blood:

Variant related genes	Relation type
ENSG00000104312	Chromatin interaction
ENSG00000251136	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12156013	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13254219	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13274635	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs218935	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs218938	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs39501	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39502	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39508	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39511	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39512	0.86[EUR][1000 genomes]
rs397540	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs39762	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39763	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39766	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs398701	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40248	0.83[EUR][1000 genomes]
rs40379	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs40380	0.85[EUR][1000 genomes]
rs40454	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs40635	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs406680	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs411310	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs42343	0.92[EUR][1000 genomes]
rs42479	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42480	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs425721	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs426779	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs428484	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs43133	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs434264	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs450332	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7815039	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
4	chr8:90772000-90796800	Weak transcription	Lung	lung
5	chr8:90772000-90797000	Weak transcription	Ovary	ovary
6	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
7	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
8	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
9	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
10	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
11	chr8:90772400-90790600	Weak transcription	NHEK	skin
12	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
17	chr8:90774400-90793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:90776400-90793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr8:90776400-90799800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:90777400-90789400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:90779000-90801200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:90779200-90793200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:90779200-90793400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr8:90779200-90793800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:90779600-90802200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:90781400-90789800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:90781400-90806600	Weak transcription	Right Ventricle	heart
29	chr8:90781600-90788800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:90781600-90790000	Strong transcription	Liver	Liver
31	chr8:90781600-90790200	Strong transcription	Placenta	Placenta
32	chr8:90781800-90805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:90782000-90788200	Strong transcription	Osteobl	bone
34	chr8:90782000-90788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:90782000-90789200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:90782000-90789600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:90782000-90789600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:90782200-90787800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:90782200-90790200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:90782600-90789600	Strong transcription	NH-A	brain
41	chr8:90783200-90789600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr8:90783400-90788400	Strong transcription	Fetal Intestine Large	intestine
43	chr8:90783400-90789400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:90783400-90789600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr8:90783400-90794200	Weak transcription	Stomach Mucosa	stomach
46	chr8:90783600-90803600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:90783800-90788200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:90783800-90788800	Strong transcription	Primary B cells from cord blood	blood
49	chr8:90783800-90829000	Weak transcription	Aorta	Aorta
50	chr8:90784000-90788400	Strong transcription	Rectal Mucosa Donor 29	rectum

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