Variant report

Variant	rs7006658
Chromosome Location	chr8:131201776-131201777
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11993716	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675936	0.85[ASN][1000 genomes]
rs12676014	0.85[ASN][1000 genomes]
rs12676536	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12676977	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13253189	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13256967	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13269931	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16904220	0.85[ASN][1000 genomes]
rs16904228	0.85[ASN][1000 genomes]
rs2114197	0.85[ASN][1000 genomes]
rs34387098	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34857454	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36004599	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55815182	0.93[ASN][1000 genomes]
rs61558949	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66488832	0.86[EUR][1000 genomes]
rs6986746	0.85[ASN][1000 genomes]
rs7014715	0.93[ASN][1000 genomes]
rs7017795	0.86[ASN][1000 genomes]
rs7018391	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73425364	0.85[ASN][1000 genomes]
rs7822764	0.85[ASN][1000 genomes]
rs7836536	0.93[ASN][1000 genomes]
rs7837833	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs897050	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9942745	0.87[EUR][1000 genomes];0.93[ASN][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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
3	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
6	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:131173600-131206600	Weak transcription	Dnd41	blood
8	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
11	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
12	chr8:131179800-131205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:131179800-131206800	Weak transcription	Fetal Thymus	thymus
14	chr8:131179800-131207800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:131180000-131206000	Weak transcription	K562	blood
16	chr8:131180200-131207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:131181000-131208600	Weak transcription	Right Ventricle	heart
18	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
19	chr8:131181200-131206000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
21	chr8:131184400-131206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:131186000-131206800	Weak transcription	Gastric	stomach
23	chr8:131187800-131209000	Weak transcription	Fetal Stomach	stomach
24	chr8:131188400-131206000	Weak transcription	HSMMtube	muscle
25	chr8:131189400-131203800	Weak transcription	HMEC	breast
26	chr8:131191400-131205800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:131191600-131206000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:131191800-131206400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:131193200-131206000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:131194800-131204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:131195000-131204800	Weak transcription	Ovary	ovary
32	chr8:131195000-131206000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:131195000-131206000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:131195000-131206000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:131195000-131206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:131195200-131203600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:131195200-131203800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:131195200-131212400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:131195600-131202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:131195600-131206200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:131195600-131206800	Weak transcription	NHDF-Ad	bronchial
43	chr8:131196800-131206200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:131197000-131203800	Weak transcription	Brain Substantia Nigra	brain
45	chr8:131197600-131205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:131199200-131204200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:131199200-131204200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:131199200-131204400	Weak transcription	Brain Angular Gyrus	brain
49	chr8:131199200-131204400	Weak transcription	Brain Anterior Caudate	brain
50	chr8:131199200-131204800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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