Variant report

Variant	rs553550517
Chromosome Location	chr8:67378086-67378087
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67373363..67378961-chr8:67380708..67384244,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169085	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv6236	chr8:67359312-67403981	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv465702	chr8:67375519-67385088	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv611457	chr8:67375519-67385088	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1026137	chr8:67376420-67408122	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67359400-67384400	Weak transcription	Fetal Kidney	kidney
2	chr8:67364600-67378800	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:67364800-67384000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:67365400-67383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr8:67365800-67379600	Weak transcription	Esophagus	oesophagus
6	chr8:67368400-67384400	Weak transcription	Psoas Muscle	Psoas
7	chr8:67370800-67384200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:67371200-67383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:67371400-67384200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:67372400-67378800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:67372600-67381000	Strong transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:67372600-67383600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:67372800-67378200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:67372800-67380200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:67372800-67381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:67372800-67383600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:67372800-67384400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:67372800-67395200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr8:67373000-67384400	Weak transcription	Brain Angular Gyrus	brain
20	chr8:67373600-67380400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:67373800-67379800	Weak transcription	Gastric	stomach
22	chr8:67373800-67385400	Weak transcription	Fetal Intestine Small	intestine
23	chr8:67374000-67379200	Weak transcription	Brain Anterior Caudate	brain
24	chr8:67374000-67381200	Weak transcription	Spleen	Spleen
25	chr8:67374400-67382200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:67374800-67379400	Weak transcription	Aorta	Aorta
27	chr8:67374800-67384600	Weak transcription	Lung	lung
28	chr8:67374800-67396800	Weak transcription	Pancreas	Pancrea
29	chr8:67375000-67379600	Weak transcription	Fetal Intestine Large	intestine
30	chr8:67375000-67384600	Weak transcription	Right Ventricle	heart
31	chr8:67375200-67379000	Weak transcription	Left Ventricle	heart
32	chr8:67376400-67382200	Weak transcription	NHEK	skin
33	chr8:67376400-67382800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:67376400-67383000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:67376400-67383800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:67376400-67384200	Weak transcription	HSMM	muscle
37	chr8:67376400-67390000	Weak transcription	Fetal Heart	heart
38	chr8:67376600-67379000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr8:67376800-67379000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:67376800-67379200	Weak transcription	Placenta	Placenta
41	chr8:67376800-67380600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr8:67376800-67382200	Weak transcription	NH-A	brain
43	chr8:67376800-67383600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr8:67376800-67384000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:67376800-67384800	Weak transcription	Fetal Lung	lung
46	chr8:67377000-67379000	Weak transcription	A549	lung
47	chr8:67377000-67379400	Weak transcription	Ovary	ovary
48	chr8:67377200-67381400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr8:67377200-67382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:67377200-67389400	Weak transcription	Brain Substantia Nigra	brain

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