Variant report

Variant	rs11992843
Chromosome Location	chr8:117872600-117872601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117872440..117874980-chr8:117878217..117880998,3	MCF-7	breast:
2	chr8:117857343..117862802-chr8:117868488..117876053,7	K562	blood:
3	chr8:117867146..117869223-chr8:117871720..117874230,2	MCF-7	breast:
4	chr8:117871470..117873290-chr8:117885559..117887198,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264875	Chromatin interaction
ENSG00000164754	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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11986244	1.00[AMR][1000 genomes]
rs11988252	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11988890	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11993461	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11995008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996899	1.00[AMR][1000 genomes]
rs11998115	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888867	0.95[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888995	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889027	1.00[AMR][1000 genomes]
rs16889103	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16889160	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17435839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34316616	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58084260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61637286	0.87[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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
2	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:117854800-117875000	Strong transcription	Dnd41	blood
4	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
5	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
6	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:117856200-117873800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:117856400-117873000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:117856400-117873000	Strong transcription	Liver	Liver
12	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:117856600-117875400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:117856600-117875800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:117856800-117874200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:117856800-117875000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:117856800-117877600	Strong transcription	HSMM	muscle
21	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
22	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
23	chr8:117857200-117875800	Strong transcription	HUVEC	blood vessel
24	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr8:117857400-117872800	Strong transcription	Fetal Muscle Leg	muscle
26	chr8:117857400-117875200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:117857600-117873400	Strong transcription	Placenta	Placenta
29	chr8:117857600-117875200	Strong transcription	A549	lung
30	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr8:117857800-117875600	Strong transcription	HMEC	breast
32	chr8:117858000-117875200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
35	chr8:117858400-117875000	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:117858400-117875800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:117858600-117873400	Strong transcription	Fetal Lung	lung
38	chr8:117858600-117873400	Strong transcription	HepG2	liver
39	chr8:117858600-117874200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:117858600-117875400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:117858600-117875600	Strong transcription	NHDF-Ad	bronchial
42	chr8:117858600-117875600	Strong transcription	NHEK	skin
43	chr8:117858800-117873000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:117858800-117873000	Strong transcription	Fetal Kidney	kidney
45	chr8:117858800-117873200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:117858800-117873800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:117858800-117874000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:117858800-117874400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr8:117859000-117872800	Strong transcription	Fetal Brain Female	brain
50	chr8:117859000-117873000	Strong transcription	Skeletal Muscle Female	skeletal muscle

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