Variant report

Variant	rs73682565
Chromosome Location	chr8:54663951-54663952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54654853..54656684-chr8:54661881..54664357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs56222736	1.00[AFR][1000 genomes]
rs56325119	1.00[AFR][1000 genomes]
rs57017768	1.00[AFR][1000 genomes]
rs57348174	1.00[AFR][1000 genomes]
rs57663732	1.00[AFR][1000 genomes]
rs58274230	1.00[AFR][1000 genomes]
rs58960877	1.00[AFR][1000 genomes]
rs59675285	1.00[AFR][1000 genomes]
rs61309000	1.00[AFR][1000 genomes]
rs73680333	1.00[AFR][1000 genomes]
rs73680339	1.00[AFR][1000 genomes]
rs73682545	1.00[AFR][1000 genomes]
rs73682546	1.00[AFR][1000 genomes]
rs73682554	1.00[AFR][1000 genomes]
rs73682558	1.00[AFR][1000 genomes]
rs73682562	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758159	chr8:54474589-54737473	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv2759616	chr8:54474589-54737473	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
2	chr8:54645600-54671400	Weak transcription	NHLF	lung
3	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
4	chr8:54647200-54666600	Weak transcription	Brain Substantia Nigra	brain
5	chr8:54647600-54666600	Weak transcription	A549	lung
6	chr8:54648600-54667200	Weak transcription	HSMMtube	muscle
7	chr8:54650200-54671000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
9	chr8:54651400-54670400	Weak transcription	Fetal Brain Male	brain
10	chr8:54652800-54673000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:54653400-54670000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:54655400-54669600	Weak transcription	Esophagus	oesophagus
13	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:54655600-54665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:54655600-54666800	Weak transcription	Brain Hippocampus Middle	brain
16	chr8:54655600-54666800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:54655600-54667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:54655600-54672400	Weak transcription	Fetal Heart	heart
19	chr8:54655800-54671000	Weak transcription	Fetal Brain Female	brain
20	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
21	chr8:54656200-54666400	Weak transcription	Placenta	Placenta
22	chr8:54656200-54666800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:54656400-54666000	Weak transcription	Fetal Stomach	stomach
24	chr8:54656400-54666000	Weak transcription	HSMM	muscle
25	chr8:54656400-54666600	Weak transcription	Fetal Muscle Leg	muscle
26	chr8:54656400-54666800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:54656400-54667000	Weak transcription	Spleen	Spleen
28	chr8:54656400-54669600	Weak transcription	Gastric	stomach
29	chr8:54656400-54672600	Weak transcription	Small Intestine	intestine
30	chr8:54656600-54666400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr8:54656600-54676200	Weak transcription	Aorta	Aorta
32	chr8:54656800-54667000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:54656800-54669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:54657000-54666000	Weak transcription	Thymus	Thymus
36	chr8:54657000-54666600	Weak transcription	Ovary	ovary
37	chr8:54657000-54672600	Weak transcription	HepG2	liver
38	chr8:54657200-54664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:54657200-54666600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:54657400-54666600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:54657400-54671000	Weak transcription	Colon Smooth Muscle	Colon
42	chr8:54658200-54665600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:54658400-54666400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:54658400-54667800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:54658400-54670800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:54658400-54671000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:54658400-54679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:54658600-54671000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:54658800-54671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:54658800-54671000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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