Variant report

Variant	rs6994685
Chromosome Location	chr8:58946146-58946147
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58943502..58945075-chr8:58945226..58947971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000169122	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1876378	1.00[AMR][1000 genomes]
rs56071871	1.00[AMR][1000 genomes]
rs6471674	1.00[AMR][1000 genomes]
rs6471676	1.00[AMR][1000 genomes]
rs6987309	1.00[AMR][1000 genomes]
rs7007225	1.00[AMR][1000 genomes]
rs7014606	1.00[AMR][1000 genomes]
rs7828094	1.00[AMR][1000 genomes]
rs7828484	1.00[AMR][1000 genomes]
rs7836163	1.00[AMR][1000 genomes]
rs7841736	1.00[AMR][1000 genomes]
rs7842095	1.00[AMR][1000 genomes]
rs7842189	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58924400-58946400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr8:58927000-58948000	Weak transcription	Fetal Brain Male	brain
3	chr8:58935000-58948600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:58935000-58950200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
6	chr8:58941800-58946200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:58941800-58946400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr8:58943200-58948200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:58943200-58950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:58943800-58946600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:58943800-58949600	Weak transcription	Placenta	Placenta
12	chr8:58943800-58950000	Weak transcription	Adipose Nuclei	Adipose
13	chr8:58943800-58951200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:58944000-58946400	Weak transcription	Brain Hippocampus Middle	brain
15	chr8:58944000-58946400	Weak transcription	Left Ventricle	heart
16	chr8:58944000-58946400	Weak transcription	Right Atrium	heart
17	chr8:58944000-58946400	Weak transcription	Right Ventricle	heart
18	chr8:58944000-58949400	Strong transcription	Fetal Muscle Trunk	muscle
19	chr8:58944000-58950200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:58944000-58950200	Weak transcription	Brain Substantia Nigra	brain
21	chr8:58944000-58950200	Weak transcription	HSMMtube	muscle
22	chr8:58944000-58950400	Weak transcription	Brain Anterior Caudate	brain
23	chr8:58944000-58950400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:58944000-58951400	Weak transcription	NHLF	lung
25	chr8:58944000-58951600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:58944200-58950000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr8:58944200-58950000	Weak transcription	NHDF-Ad	bronchial
28	chr8:58944400-58946400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:58944400-58947200	Strong transcription	Fetal Brain Female	brain
30	chr8:58944400-58948800	Strong transcription	Fetal Stomach	stomach
31	chr8:58944400-58949000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:58944400-58949400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:58944600-58946200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:58944600-58946600	Weak transcription	Colon Smooth Muscle	Colon
35	chr8:58944600-58947600	Strong transcription	HSMM	muscle
36	chr8:58944600-58948400	Weak transcription	Ovary	ovary
37	chr8:58944600-58954400	Weak transcription	Fetal Intestine Small	intestine
38	chr8:58944600-58963000	Weak transcription	Stomach Mucosa	stomach
39	chr8:58944800-58946400	Strong transcription	Fetal Muscle Leg	muscle
40	chr8:58944800-58946400	Weak transcription	Psoas Muscle	Psoas
41	chr8:58944800-58962800	Weak transcription	Gastric	stomach
42	chr8:58945000-58946200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:58945000-58947000	Enhancers	Spleen	Spleen
44	chr8:58945200-58946600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr8:58945200-58947600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
46	chr8:58945200-58948400	Strong transcription	Fetal Lung	lung
47	chr8:58945400-58946400	Weak transcription	Liver	Liver
48	chr8:58945400-58946400	Weak transcription	Lung	lung
49	chr8:58945400-58952200	Weak transcription	HepG2	liver
50	chr8:58945400-58957800	Weak transcription	Pancreas	Pancrea

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