Variant report

Variant	rs55637017
Chromosome Location	chr8:131307282-131307283
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131305468..131308042-chr8:131311655..131315652,3	K562	blood:
2	chr8:131296841..131298390-chr8:131305321..131307760,2	K562	blood:
3	chr8:131305468..131307636-chr8:131313126..131315652,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs16904265	0.91[EUR][1000 genomes]
rs16904266	0.91[EUR][1000 genomes]
rs55642195	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55686856	0.91[EUR][1000 genomes]
rs55692599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55705977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55724400	0.83[AMR][1000 genomes]
rs55758693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55759431	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55821463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55823176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55867508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55871312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55891945	0.91[EUR][1000 genomes]
rs55961633	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55968438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55979731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56194038	0.85[AMR][1000 genomes]
rs56241132	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56285703	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56297697	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56308942	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56313701	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56323699	0.91[EUR][1000 genomes]
rs56336751	0.91[EUR][1000 genomes]
rs56347021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56349599	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56385215	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56405390	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6993944	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994242	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6994477	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6998031	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7004723	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005271	0.96[EUR][1000 genomes]
rs7462977	0.91[EUR][1000 genomes]
rs7815532	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7821742	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7836688	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131282400-131314800	Weak transcription	Gastric	stomach
2	chr8:131297200-131308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:131297600-131311400	Weak transcription	Fetal Lung	lung
4	chr8:131300400-131314800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:131301000-131308200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:131301000-131309600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:131301600-131309400	Enhancers	Fetal Heart	heart
8	chr8:131302200-131308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:131302200-131308800	Enhancers	Brain Angular Gyrus	brain
10	chr8:131302600-131317400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:131302800-131307800	Weak transcription	HSMMtube	muscle
12	chr8:131302800-131315400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:131303200-131307800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr8:131303200-131310400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:131304200-131309000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:131304400-131307800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:131304400-131308600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:131304400-131309000	Enhancers	Brain Substantia Nigra	brain
19	chr8:131304400-131309000	Enhancers	Psoas Muscle	Psoas
20	chr8:131304400-131310000	Enhancers	HUVEC	blood vessel
21	chr8:131304400-131315600	Enhancers	Brain Hippocampus Middle	brain
22	chr8:131304600-131309000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:131304600-131309000	Enhancers	GM12878-XiMat	blood
24	chr8:131304600-131310600	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:131304600-131311800	Enhancers	Brain Anterior Caudate	brain
26	chr8:131304800-131309000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr8:131304800-131312600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr8:131305000-131308400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:131305000-131308600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:131305200-131313800	Enhancers	Right Ventricle	heart
31	chr8:131305200-131315400	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:131305400-131311800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:131305600-131308400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr8:131305600-131308800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:131305800-131307600	Weak transcription	Fetal Stomach	stomach
36	chr8:131305800-131308400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:131305800-131308800	Weak transcription	K562	blood
38	chr8:131305800-131315400	Enhancers	Stomach Smooth Muscle	stomach
39	chr8:131306000-131307400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:131306000-131307600	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:131306000-131308200	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:131306000-131308400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:131306000-131308400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr8:131306000-131308400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:131306000-131308800	Weak transcription	Brain Germinal Matrix	brain
46	chr8:131306000-131309600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:131306000-131309600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:131306000-131314600	Weak transcription	Placenta	Placenta
49	chr8:131306000-131314800	Weak transcription	Fetal Brain Female	brain
50	chr8:131306000-131321200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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