Variant report

Variant	rs17430140
Chromosome Location	chr8:118835772-118835773
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17430645	1.00[AFR][1000 genomes]
rs17431166	1.00[AFR][1000 genomes]
rs17431249	1.00[AFR][1000 genomes]
rs17431429	1.00[AFR][1000 genomes]
rs17453784	1.00[AFR][1000 genomes]
rs2514714	1.00[ASN][1000 genomes]
rs2514726	1.00[ASN][1000 genomes]
rs56660440	1.00[AFR][1000 genomes]
rs72673922	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118801000-118843600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:118804200-118836000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:118804200-118838000	Strong transcription	HSMM	muscle
4	chr8:118805400-118836800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118805600-118849800	Strong transcription	Liver	Liver
6	chr8:118808600-118849400	Weak transcription	Stomach Mucosa	stomach
7	chr8:118810000-118843800	Weak transcription	Fetal Heart	heart
8	chr8:118814000-118842200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:118816800-118836800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:118817200-118852400	Weak transcription	Psoas Muscle	Psoas
11	chr8:118817200-118852400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:118817400-118835800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:118819000-118842000	Weak transcription	Fetal Kidney	kidney
14	chr8:118819600-118851000	Weak transcription	Fetal Thymus	thymus
15	chr8:118825000-118844800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:118825000-118850000	Weak transcription	Fetal Brain Female	brain
17	chr8:118825200-118841000	Weak transcription	Thymus	Thymus
18	chr8:118825200-118848000	Weak transcription	Colonic Mucosa	Colon
19	chr8:118825200-118859600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:118825200-118859800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:118825400-118849200	Weak transcription	Brain Hippocampus Middle	brain
22	chr8:118825400-118849600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:118825400-118852400	Weak transcription	Right Ventricle	heart
24	chr8:118825400-118853200	Weak transcription	Brain Anterior Caudate	brain
25	chr8:118825400-118859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:118825600-118843800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr8:118825600-118849600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:118825600-118849800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr8:118825600-118857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr8:118825600-118860000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr8:118825800-118846400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:118825800-118850400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:118827200-118847200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:118827200-118855000	Weak transcription	Right Atrium	heart
35	chr8:118827600-118838000	Weak transcription	Hela-S3	cervix
36	chr8:118827600-118841200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:118827800-118841000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:118827800-118844000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:118828000-118837800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:118828600-118857000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:118828800-118841000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr8:118829000-118837600	Strong transcription	NHEK	skin
43	chr8:118829200-118847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:118829600-118836800	Strong transcription	Osteobl	bone
45	chr8:118829600-118837600	Strong transcription	NHDF-Ad	bronchial
46	chr8:118829800-118855000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr8:118829800-118859800	Weak transcription	Esophagus	oesophagus
48	chr8:118830600-118841000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr8:118830800-118843400	Weak transcription	HSMMtube	muscle
50	chr8:118831200-118846200	Weak transcription	Rectal Smooth Muscle	rectum

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