Variant report

Variant	rs8022272
Chromosome Location	chr14:31671974-31671975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31667340..31669101-chr14:31670075..31672615,3	MCF-7	breast:
2	chr14:31671940..31673668-chr14:31776880..31779409,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130804	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs10134821	0.84[EUR][1000 genomes]
rs10136065	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10136918	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10142413	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146042	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146272	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10147747	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12880208	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12888959	0.95[CEU][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28377925	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28806860	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34666986	0.92[ASN][1000 genomes]
rs34807591	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34975239	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61976859	0.92[ASN][1000 genomes]
rs61978760	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61978769	0.84[ASN][1000 genomes]
rs61995486	0.92[ASN][1000 genomes]
rs6571391	0.81[CEU][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs6571392	0.86[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7144107	0.83[EUR][1000 genomes]
rs7147179	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7154556	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7159848	0.95[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7161315	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8004286	0.83[EUR][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	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31637200-31675000	Weak transcription	Gastric	stomach
2	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
4	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
5	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
6	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
8	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:31648000-31674800	Weak transcription	Thymus	Thymus
11	chr14:31651000-31674800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:31654400-31674800	Weak transcription	Colonic Mucosa	Colon
13	chr14:31655000-31674400	Weak transcription	Fetal Brain Female	brain
14	chr14:31659800-31673800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:31660200-31675000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:31660600-31674200	Weak transcription	Brain Germinal Matrix	brain
17	chr14:31660800-31675000	Weak transcription	Fetal Thymus	thymus
18	chr14:31664200-31673800	Genic enhancers	HepG2	liver
19	chr14:31664400-31674800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:31664400-31675000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:31664600-31672200	Weak transcription	Fetal Kidney	kidney
22	chr14:31664600-31673800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:31664600-31674000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr14:31665200-31673800	Weak transcription	HMEC	breast
25	chr14:31665200-31675000	Weak transcription	Small Intestine	intestine
26	chr14:31665400-31674200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:31665400-31674200	Weak transcription	Fetal Heart	heart
28	chr14:31665400-31674800	Weak transcription	Aorta	Aorta
29	chr14:31665400-31675000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31665600-31674000	Weak transcription	NHLF	lung
31	chr14:31665600-31674800	Weak transcription	HSMMtube	muscle
32	chr14:31665800-31672000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:31666400-31675000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:31666600-31674800	Weak transcription	Right Ventricle	heart
35	chr14:31666800-31672600	Strong transcription	Primary B cells from cord blood	blood
36	chr14:31666800-31674800	Weak transcription	Ovary	ovary
37	chr14:31667200-31674000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:31667200-31674200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:31667200-31674400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:31667200-31674400	Weak transcription	Stomach Mucosa	stomach
41	chr14:31667200-31674400	Weak transcription	Hela-S3	cervix
42	chr14:31667400-31674200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr14:31667800-31674200	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:31668200-31674000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr14:31669000-31672200	Strong transcription	Dnd41	blood
46	chr14:31669000-31672600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:31669000-31673800	Strong transcription	Primary T cells from cord blood	blood
48	chr14:31669000-31673800	Strong transcription	Fetal Lung	lung
49	chr14:31669200-31672800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr14:31669400-31672800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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