Variant report

Variant	rs6991117
Chromosome Location	chr8:107775426-107775427
allele	A/T
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	chr8:107774648..107776061-chr8:107868448..107869328,4	K562	blood:
2	chr8:107775088..107775609-chr8:107857855..107858702,2	MCF-7	breast:
3	chr8:107775122..107775909-chr8:108544216..108544790,2	MCF-7	breast:
4	chr8:107775145..107775930-chr8:107845378..107846271,5	MCF-7	breast:
5	chr8:107775402..107776032-chr8:107844297..107844856,3	MCF-7	breast:
6	chr8:107774909..107775928-chr8:107868574..107869326,4	MCF-7	breast:
7	chr8:107774998..107776443-chr8:107844921..107846410,11	MCF-7	breast:
8	chr8:107775413..107775971-chr8:107868475..107869338,2	MCF-7	breast:

No data

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28921388	1.00[AMR][1000 genomes]
rs28921415	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28924672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28924685	1.00[AMR][1000 genomes]
rs36061217	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58518119	1.00[AMR][1000 genomes]
rs7845537	0.98[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	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1032991	chr8:107756661-107819035	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107719600-107777800	Weak transcription	Esophagus	oesophagus
2	chr8:107740200-107783800	Weak transcription	Fetal Brain Male	brain
3	chr8:107753600-107777400	Weak transcription	HUVEC	blood vessel
4	chr8:107755800-107777800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:107756400-107777800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:107756600-107777400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:107756600-107777400	Weak transcription	Psoas Muscle	Psoas
8	chr8:107756600-107777600	Weak transcription	Fetal Brain Female	brain
9	chr8:107760200-107775800	Weak transcription	Right Ventricle	heart
10	chr8:107761400-107777600	Weak transcription	Fetal Stomach	stomach
11	chr8:107761600-107775600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:107765400-107777200	Weak transcription	HSMM	muscle
13	chr8:107771200-107776200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr8:107772600-107777400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:107773600-107776000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr8:107774400-107776000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr8:107774400-107776000	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:107775000-107775800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:107775000-107776000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:107775000-107776000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr8:107775000-107776000	Enhancers	Fetal Heart	heart
22	chr8:107775200-107775600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr8:107775200-107775600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:107775200-107775600	Flanking Active TSS	Fetal Kidney	kidney
25	chr8:107775200-107775600	Enhancers	Stomach Mucosa	stomach
26	chr8:107775200-107775800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:107775200-107775800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:107775200-107775800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:107775200-107775800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:107775200-107775800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr8:107775200-107775800	Enhancers	Brain Cingulate Gyrus	brain
32	chr8:107775200-107775800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr8:107775200-107775800	Enhancers	Fetal Intestine Large	intestine
34	chr8:107775200-107775800	Enhancers	HMEC	breast
35	chr8:107775200-107775800	Enhancers	NHLF	lung
36	chr8:107775200-107775800	Enhancers	Osteobl	bone
37	chr8:107775200-107776000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:107775200-107776000	Enhancers	Primary B cells from peripheral blood	blood
39	chr8:107775200-107776000	Enhancers	Primary T cells from cord blood	blood
40	chr8:107775200-107776000	Enhancers	Primary T cells fromperipheralblood	blood
41	chr8:107775200-107776000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:107775200-107776000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr8:107775200-107776000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:107775200-107776000	Enhancers	Adipose Nuclei	Adipose
45	chr8:107775200-107776000	Enhancers	Liver	Liver
46	chr8:107775200-107776000	Enhancers	Brain Hippocampus Middle	brain
47	chr8:107775200-107776000	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr8:107775200-107776000	Enhancers	Brain Substantia Nigra	brain
49	chr8:107775200-107776000	Enhancers	Colon Smooth Muscle	Colon
50	chr8:107775200-107776000	Enhancers	Pancreas	Pancrea

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