Variant report

Variant	rs73427311
Chromosome Location	chr8:131220501-131220502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131219943..131220583-chr8:131688855..131689396,2	MCF-7	breast:
2	chr8:131219409..131220512-chr8:131314320..131315369,4	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56928931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57129132	0.86[AFR][1000 genomes]
rs59496740	0.86[AFR][1000 genomes]
rs6991291	1.00[AMR][1000 genomes]
rs73405551	1.00[AMR][1000 genomes]
rs73405564	1.00[AMR][1000 genomes]
rs73405594	1.00[AMR][1000 genomes]
rs73409315	0.86[AFR][1000 genomes]
rs73425394	1.00[AMR][1000 genomes]
rs73427312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427321	1.00[AMR][1000 genomes]
rs73427358	0.86[AFR][1000 genomes]
rs73427361	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
2	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
3	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:131199200-131229200	Weak transcription	Fetal Lung	lung
5	chr8:131200600-131224600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:131200600-131224800	Weak transcription	Placenta	Placenta
7	chr8:131200600-131246600	Weak transcription	Pancreas	Pancrea
8	chr8:131209000-131224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:131209600-131261200	Weak transcription	Esophagus	oesophagus
10	chr8:131210000-131250400	Weak transcription	Gastric	stomach
11	chr8:131210200-131225000	Weak transcription	Fetal Stomach	stomach
12	chr8:131210200-131230200	Weak transcription	Brain Germinal Matrix	brain
13	chr8:131211400-131225600	Weak transcription	Fetal Heart	heart
14	chr8:131211800-131224200	Weak transcription	Left Ventricle	heart
15	chr8:131212000-131222800	Weak transcription	Right Ventricle	heart
16	chr8:131213600-131224600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:131213600-131231600	Weak transcription	Right Atrium	heart
18	chr8:131213800-131226000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:131214000-131255800	Weak transcription	Brain Angular Gyrus	brain
20	chr8:131214200-131224600	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:131214400-131228200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:131214400-131257000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:131214600-131225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:131214600-131238200	Weak transcription	Ovary	ovary
25	chr8:131215800-131224800	Weak transcription	Lung	lung
26	chr8:131215800-131231600	Weak transcription	Spleen	Spleen
27	chr8:131216800-131221600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:131216800-131224200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr8:131217000-131220600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:131217000-131221600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:131217000-131224600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:131217000-131225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:131217000-131260600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:131217200-131221200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:131217200-131221600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:131217200-131224600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:131217200-131237000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:131217400-131221000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr8:131217400-131225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:131217400-131235400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:131217600-131232000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr8:131217600-131246400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr8:131217800-131220800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr8:131217800-131220800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr8:131217800-131221000	Enhancers	Primary T cells from cord blood	blood
46	chr8:131217800-131221000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:131217800-131221800	Enhancers	NHDF-Ad	bronchial
48	chr8:131218000-131220600	Enhancers	Primary B cells from peripheral blood	blood
49	chr8:131218000-131220600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr8:131218000-131220600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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