Variant report

Variant	rs8007271
Chromosome Location	chr14:71793189-71793190
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:71793088-71793412	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:71791240..71793345-chr14:71795264..71797079,2	MCF-7	breast:
2	chr14:71791876..71795993-chr14:71799711..71802625,3	MCF-7	breast:
3	chr14:71786919..71789701-chr14:71792823..71795908,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259146	TF binding region
ENSG00000259146	Chromatin interaction
ENSG00000197555	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10130652	0.82[EUR][1000 genomes]
rs12878009	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12897119	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs193440	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs193441	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs193442	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs193443	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2041330	0.80[EUR][1000 genomes]
rs3088206	0.82[EUR][1000 genomes]
rs36528	0.81[EUR][1000 genomes]
rs36535	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs41217	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41218	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41219	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41224	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41225	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41227	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41229	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153726	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7154208	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8007521	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8016217	0.87[EUR][1000 genomes]
rs8023058	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs917391	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832827	chr14:71676178-71833519	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv1831401	chr14:71786411-71845264	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71788600-71794600	Weak transcription	Gastric	stomach
2	chr14:71788600-71811200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:71788600-71817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:71788800-71793400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:71789000-71793400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:71789000-71793400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr14:71789000-71800600	Weak transcription	Esophagus	oesophagus
8	chr14:71789200-71796800	Weak transcription	Fetal Intestine Small	intestine
9	chr14:71789200-71800400	Weak transcription	Aorta	Aorta
10	chr14:71789400-71802200	Weak transcription	Fetal Intestine Large	intestine
11	chr14:71789800-71794800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:71789800-71797000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:71789800-71820000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:71790000-71795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:71790000-71796000	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:71790200-71794400	Weak transcription	Fetal Lung	lung
17	chr14:71790200-71798000	Weak transcription	Brain Angular Gyrus	brain
18	chr14:71790400-71794400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:71791400-71793200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:71791400-71793200	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr14:71791400-71793400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr14:71791400-71793400	Flanking Active TSS	GM12878-XiMat	blood
23	chr14:71791600-71793200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr14:71791800-71794400	Weak transcription	NH-A	brain
25	chr14:71791800-71794600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:71791800-71794600	Weak transcription	HSMM	muscle
27	chr14:71791800-71795600	Enhancers	Primary T cells from cord blood	blood
28	chr14:71791800-71806400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:71792000-71793200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr14:71792000-71794200	Weak transcription	HepG2	liver
31	chr14:71792000-71794400	Weak transcription	HMEC	breast
32	chr14:71792000-71796200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:71792000-71801800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr14:71792200-71793600	Enhancers	Primary B cells from cord blood	blood
35	chr14:71792200-71794400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:71792200-71795400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:71792200-71800000	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:71792200-71819400	Weak transcription	NHEK	skin
39	chr14:71792400-71793200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:71792400-71794400	Weak transcription	Hela-S3	cervix
41	chr14:71792400-71794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:71792400-71800000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr14:71792400-71811800	Weak transcription	Fetal Kidney	kidney
44	chr14:71792600-71794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:71792600-71794200	Weak transcription	Fetal Thymus	thymus
46	chr14:71792600-71798200	Weak transcription	Small Intestine	intestine
47	chr14:71792600-71798600	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:71792600-71798800	Weak transcription	Thymus	Thymus
49	chr14:71792800-71793200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr14:71792800-71794200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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