Variant report

Variant	rs6991594
Chromosome Location	chr8:58961176-58961177
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:58959136..58960793-chr8:58960961..58963378,2	K562	blood:
2	chr8:58960183..58961869-chr8:58981699..58984005,2	MCF-7	breast:
3	chr8:58918597..58920441-chr8:58959526..58962470,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56283627	1.00[AMR][1000 genomes]
rs6471677	1.00[AMR][1000 genomes]
rs7835069	1.00[AMR][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
3	chr8:58944800-58962800	Weak transcription	Gastric	stomach
4	chr8:58949400-58966800	Weak transcription	Liver	Liver
5	chr8:58951800-58963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:58951800-58963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:58952000-58964200	Weak transcription	Osteobl	bone
8	chr8:58952200-58961200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:58952200-58962800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
11	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
12	chr8:58954200-58961200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:58954200-58962800	Weak transcription	Lung	lung
14	chr8:58954400-58962800	Weak transcription	Right Ventricle	heart
15	chr8:58954400-58973200	Weak transcription	Psoas Muscle	Psoas
16	chr8:58955000-58963000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr8:58955200-58974400	Weak transcription	Fetal Brain Male	brain
18	chr8:58955600-58962600	Weak transcription	Fetal Brain Female	brain
19	chr8:58956000-58963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:58956000-58969400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:58958000-58964000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:58958000-58969400	Weak transcription	HSMM	muscle
23	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:58958200-58968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:58958800-58962800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:58959600-58964600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:58960000-58961600	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:58960000-58963800	Enhancers	Fetal Kidney	kidney
29	chr8:58960200-58961400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr8:58960200-58961600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr8:58960400-58961400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:58960400-58961400	Enhancers	NHDF-Ad	bronchial
33	chr8:58960400-58962000	Enhancers	Fetal Lung	lung
34	chr8:58960400-58963200	Enhancers	Colon Smooth Muscle	Colon
35	chr8:58960600-58961400	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:58960600-58961400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr8:58960600-58961400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:58960600-58961800	Enhancers	Brain Hippocampus Middle	brain
39	chr8:58960600-58963000	Enhancers	Fetal Stomach	stomach
40	chr8:58960800-58961200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:58960800-58961200	Enhancers	Fetal Muscle Leg	muscle
42	chr8:58960800-58961200	Enhancers	Left Ventricle	heart
43	chr8:58960800-58961200	Enhancers	Right Atrium	heart
44	chr8:58960800-58961200	Enhancers	Spleen	Spleen
45	chr8:58960800-58961400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr8:58960800-58961400	Enhancers	Small Intestine	intestine
47	chr8:58960800-58961600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr8:58960800-58962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:58960800-58963000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:58960800-58963400	Weak transcription	NHLF	lung

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