Variant report

Variant	rs34316616
Chromosome Location	chr8:117854821-117854822
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:117854618..117858375-chr8:117860492..117864131,4	K562	blood:
2	chr8:117854712..117858080-chr8:117883055..117888027,5	K562	blood:
3	chr8:117853348..117856014-chr8:117857565..117859275,2	MCF-7	breast:
4	chr8:117800302..117801274-chr8:117854345..117854896,2	MCF-7	breast:
5	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
6	chr8:117836448..117838842-chr8:117853404..117855455,2	K562	blood:
7	chr8:117854618..117857279-chr8:117860492..117862801,2	K562	blood:
8	chr8:117849321..117852329-chr8:117852764..117857152,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164754	Chromatin interaction
ENSG00000264875	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11984783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986244	1.00[AMR][1000 genomes]
rs11988252	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988890	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11992843	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993461	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995008	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996899	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11998115	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888873	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888957	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888968	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888995	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889027	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889103	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889160	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17435839	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58084260	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637286	0.92[AFR][1000 genomes];1.00[AMR][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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117841000-117856800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr8:117844600-117856400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:117846000-117856600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:117846200-117856400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:117846800-117856200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:117848200-117858600	Weak transcription	HepG2	liver
8	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:117850000-117856000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr8:117850000-117856600	Weak transcription	HSMMtube	muscle
11	chr8:117850000-117859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:117850400-117855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:117850400-117857200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr8:117850800-117858200	Weak transcription	Primary B cells from cord blood	blood
15	chr8:117850800-117858800	Weak transcription	Ovary	ovary
16	chr8:117851000-117856400	Weak transcription	NHLF	lung
17	chr8:117851800-117855800	Weak transcription	Placenta	Placenta
18	chr8:117851800-117856400	Weak transcription	Primary T cells from cord blood	blood
19	chr8:117852000-117856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:117852000-117856000	Weak transcription	Brain Germinal Matrix	brain
21	chr8:117852000-117859000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:117852400-117857600	Weak transcription	A549	lung
23	chr8:117852400-117859200	Weak transcription	Fetal Heart	heart
24	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
25	chr8:117852600-117857000	Weak transcription	Hela-S3	cervix
26	chr8:117852600-117857800	Weak transcription	HMEC	breast
27	chr8:117852600-117858000	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:117852600-117859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:117852800-117856000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr8:117852800-117856000	Weak transcription	Fetal Thymus	thymus
31	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
32	chr8:117853000-117855400	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:117853000-117856000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr8:117853000-117856000	Weak transcription	Lung	lung
35	chr8:117853000-117856200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr8:117853000-117856400	Weak transcription	Liver	Liver
37	chr8:117853000-117856800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:117853200-117856000	Weak transcription	Fetal Stomach	stomach
40	chr8:117853200-117856200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:117853200-117856400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:117853200-117857200	Weak transcription	HUVEC	blood vessel
43	chr8:117853200-117857600	Weak transcription	Duodenum Mucosa	Duodenum
44	chr8:117853200-117858400	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:117853400-117855200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:117853400-117856000	Weak transcription	Fetal Intestine Large	intestine
47	chr8:117853400-117856200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:117853400-117856400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr8:117853400-117856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:117853400-117856600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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