Variant report

Variant	rs6471678
Chromosome Location	chr8:58979573-58979574
allele	A/C
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	CTCF	chr8:58979440-58979590	GM12864	blood:	n/a	n/a

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:

Variant related genes	Relation type
FAM110B	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10504240	1.00[JPT][hapmap]
rs10504241	1.00[JPT][hapmap]
rs1507081	1.00[JPT][hapmap]
rs16922983	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
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]
rs28638177	1.00[EUR][1000 genomes]
rs55808340	1.00[EUR][1000 genomes]
rs56283627	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59980825	1.00[EUR][1000 genomes]
rs60729123	1.00[EUR][1000 genomes]
rs6471674	1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6471677	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471679	1.00[JPT][hapmap]
rs7003864	1.00[EUR][1000 genomes]
rs73681724	1.00[EUR][1000 genomes]
rs73681726	1.00[EUR][1000 genomes]
rs73681728	1.00[EUR][1000 genomes]
rs73681729	1.00[EUR][1000 genomes]
rs73681746	1.00[EUR][1000 genomes]
rs73681748	1.00[EUR][1000 genomes]
rs73681749	1.00[EUR][1000 genomes]
rs73681772	1.00[EUR][1000 genomes]
rs7835069	0.84[YRI][hapmap];0.98[AFR][1000 genomes];1.00[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	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
4	chr8:58966600-58980000	Weak transcription	Ovary	ovary
5	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:58969800-58979800	Weak transcription	HSMM	muscle
7	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:58973200-58979800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
10	chr8:58974000-58979800	Weak transcription	NHLF	lung
11	chr8:58974400-58979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:58974400-58979600	Weak transcription	NHDF-Ad	bronchial
13	chr8:58975800-58982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:58977200-58980400	Enhancers	Fetal Heart	heart
15	chr8:58977400-58981200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:58977600-58980200	Enhancers	Fetal Kidney	kidney
17	chr8:58977600-58981400	Enhancers	Fetal Lung	lung
18	chr8:58978200-58981400	Enhancers	Liver	Liver
19	chr8:58978400-58979600	Genic enhancers	Fetal Stomach	stomach
20	chr8:58978400-58980600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:58978400-58980800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:58978400-58980800	Enhancers	Brain Germinal Matrix	brain
23	chr8:58978600-58979600	Enhancers	Lung	lung
24	chr8:58978600-58980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:58978600-58980200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:58978600-58980400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:58978600-58980400	Enhancers	Right Atrium	heart
28	chr8:58978600-58980600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:58978600-58981200	Enhancers	Colon Smooth Muscle	Colon
30	chr8:58978600-58982200	Enhancers	HepG2	liver
31	chr8:58978800-58979600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:58978800-58979600	Enhancers	Placenta	Placenta
33	chr8:58978800-58980200	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:58978800-58980200	Enhancers	Gastric	stomach
35	chr8:58978800-58980200	Enhancers	Left Ventricle	heart
36	chr8:58978800-58980200	Enhancers	Right Ventricle	heart
37	chr8:58978800-58980800	Enhancers	Brain Anterior Caudate	brain
38	chr8:58978800-58981000	Enhancers	Brain Hippocampus Middle	brain
39	chr8:58978800-58981200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr8:58978800-58982600	Enhancers	Fetal Brain Male	brain
41	chr8:58978800-58982600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr8:58979000-58979800	Weak transcription	Brain Substantia Nigra	brain
43	chr8:58979000-58979800	Weak transcription	Pancreas	Pancrea
44	chr8:58979000-58980000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:58979000-58980000	Weak transcription	Psoas Muscle	Psoas
46	chr8:58979000-58980200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr8:58979000-58980200	Enhancers	GM12878-XiMat	blood
48	chr8:58979000-58981000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:58979000-58981000	Enhancers	Stomach Smooth Muscle	stomach
50	chr8:58979000-58981200	Enhancers	NH-A	brain

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