Variant report

Variant	rs10955788
Chromosome Location	chr8:117719609-117719610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117719336..117721339-chr8:117723414..117726413,2	K562	blood:
2	chr8:117716628..117720164-chr8:117721667..117723511,3	MCF-7	breast:
3	chr8:117718113..117720026-chr8:117767577..117769675,2	K562	blood:
4	chr8:117693346..117695933-chr8:117718401..117720133,2	K562	blood:
5	chr8:117718113..117720361-chr8:117767009..117769675,3	K562	blood:

Variant related genes	Relation type
ENSG00000147677	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10808484	0.82[CHB][hapmap]
rs11988527	0.87[AFR][1000 genomes]
rs17811450	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67991519	0.93[AFR][1000 genomes]
rs7003034	0.94[AFR][1000 genomes]
rs7822206	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838174	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117703400-117721200	Weak transcription	HSMM	muscle
2	chr8:117703800-117721000	Weak transcription	NH-A	brain
3	chr8:117704000-117720000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:117704600-117722000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:117706000-117720800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:117707200-117726800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:117707600-117721400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:117707800-117721400	Weak transcription	NHDF-Ad	bronchial
9	chr8:117707800-117732600	Weak transcription	Fetal Thymus	thymus
10	chr8:117708000-117720200	Weak transcription	Thymus	Thymus
11	chr8:117708000-117721000	Weak transcription	HMEC	breast
12	chr8:117708000-117721400	Weak transcription	Dnd41	blood
13	chr8:117708000-117721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:117708000-117733200	Weak transcription	Hela-S3	cervix
15	chr8:117708200-117721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:117708400-117727000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:117708400-117727000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:117708600-117721200	Weak transcription	NHEK	skin
19	chr8:117708600-117732800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:117708600-117733200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:117708600-117733200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr8:117709800-117721200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:117709800-117722200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:117710600-117722000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:117711800-117722000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:117713200-117730800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:117714000-117720800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:117714200-117720000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:117714600-117721000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:117714600-117722200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:117715000-117721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:117715800-117721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr8:117716000-117720000	Weak transcription	Placenta	Placenta
34	chr8:117716000-117721000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:117716000-117721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:117716000-117730800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:117716000-117733400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:117716200-117720200	Enhancers	Fetal Heart	heart
39	chr8:117716200-117725800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr8:117716400-117721800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:117716400-117727800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:117716600-117719800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr8:117716600-117722000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:117716800-117720200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr8:117716800-117724600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:117717000-117720000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:117717000-117720600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr8:117717000-117724400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr8:117717200-117720200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr8:117717200-117722000	Weak transcription	A549	lung

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