Variant report

Variant	rs6471679
Chromosome Location	chr8:58979626-58979627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:58972227..58973828-chr8:58977965..58980354,2	MCF-7	breast:
2	chr8:58973927..58975481-chr8:58979211..58981021,2	K562	blood:
3	chr8:58964702..58966209-chr8:58978856..58981572,2	K562	blood:
4	chr8:58979230..58980915-chr8:59145278..59146797,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10089259	0.85[CEU][hapmap]
rs10110195	1.00[CHB][hapmap]
rs10504240	1.00[JPT][hapmap]
rs10504241	1.00[JPT][hapmap]
rs10957030	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes]
rs1108188	0.85[CEU][hapmap]
rs11774174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11780747	0.90[TSI][hapmap]
rs11781102	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs11781204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs11997733	0.85[CEU][hapmap]
rs11998721	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs12114432	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs1507081	1.00[JPT][hapmap]
rs16922937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16922943	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs16922946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16922983	1.00[JPT][hapmap]
rs16923020	1.00[JPT][hapmap]
rs16923023	1.00[JPT][hapmap]
rs16923066	1.00[JPT][hapmap]
rs16923074	1.00[JPT][hapmap]
rs16923080	1.00[JPT][hapmap]
rs16923114	1.00[CHB][hapmap]
rs28508605	0.90[EUR][1000 genomes]
rs57550641	0.90[EUR][1000 genomes]
rs59166085	0.90[EUR][1000 genomes]
rs61521318	0.90[EUR][1000 genomes]
rs6471678	1.00[JPT][hapmap]
rs6989882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs7000941	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7007800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs7015049	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs73236447	0.90[EUR][1000 genomes]
rs73236448	0.90[EUR][1000 genomes]
rs73236451	0.90[EUR][1000 genomes]
rs73236452	0.84[EUR][1000 genomes]
rs73236455	0.90[EUR][1000 genomes]
rs73236458	0.90[EUR][1000 genomes]
rs73236461	0.90[EUR][1000 genomes]
rs73236476	0.90[EUR][1000 genomes]
rs73236481	0.90[EUR][1000 genomes]
rs73236484	0.90[EUR][1000 genomes]
rs7812600	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs7813490	0.85[CEU][hapmap]
rs7816440	1.00[CHB][hapmap]
rs7828423	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs7832353	0.85[CEU][hapmap];0.90[TSI][hapmap]
rs884135	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs884136	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes]
rs9694113	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs9694139	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1803360	chr8:58976889-58986166	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58966600-58980000	Weak transcription	Ovary	ovary
4	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:58969800-58979800	Weak transcription	HSMM	muscle
6	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:58973200-58979800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
9	chr8:58974000-58979800	Weak transcription	NHLF	lung
10	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:58977200-58980400	Enhancers	Fetal Heart	heart
12	chr8:58977400-58981200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:58977600-58980200	Enhancers	Fetal Kidney	kidney
14	chr8:58977600-58981400	Enhancers	Fetal Lung	lung
15	chr8:58978200-58981400	Enhancers	Liver	Liver
16	chr8:58978400-58980600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:58978400-58980800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr8:58978400-58980800	Enhancers	Brain Germinal Matrix	brain
19	chr8:58978600-58980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr8:58978600-58980200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:58978600-58980400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:58978600-58980400	Enhancers	Right Atrium	heart
23	chr8:58978600-58980600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:58978600-58981200	Enhancers	Colon Smooth Muscle	Colon
25	chr8:58978600-58982200	Enhancers	HepG2	liver
26	chr8:58978800-58980200	Enhancers	Fetal Muscle Trunk	muscle
27	chr8:58978800-58980200	Enhancers	Gastric	stomach
28	chr8:58978800-58980200	Enhancers	Left Ventricle	heart
29	chr8:58978800-58980200	Enhancers	Right Ventricle	heart
30	chr8:58978800-58980800	Enhancers	Brain Anterior Caudate	brain
31	chr8:58978800-58981000	Enhancers	Brain Hippocampus Middle	brain
32	chr8:58978800-58981200	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:58978800-58982600	Enhancers	Fetal Brain Male	brain
34	chr8:58978800-58982600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr8:58979000-58979800	Weak transcription	Brain Substantia Nigra	brain
36	chr8:58979000-58979800	Weak transcription	Pancreas	Pancrea
37	chr8:58979000-58980000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:58979000-58980000	Weak transcription	Psoas Muscle	Psoas
39	chr8:58979000-58980200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:58979000-58980200	Enhancers	GM12878-XiMat	blood
41	chr8:58979000-58981000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:58979000-58981000	Enhancers	Stomach Smooth Muscle	stomach
43	chr8:58979000-58981200	Enhancers	NH-A	brain
44	chr8:58979000-58982000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:58979000-58982600	Enhancers	Fetal Brain Female	brain
46	chr8:58979200-58979800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr8:58979200-58980600	Enhancers	Stomach Mucosa	stomach
48	chr8:58979200-58981200	Enhancers	Rectal Smooth Muscle	rectum
49	chr8:58979200-58981400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:58979200-58982200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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