Variant report

Variant	rs41360051
Chromosome Location	chr8:54662790-54662791
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54662153..54663773-chr8:54755567..54757091,2	MCF-7	breast:
2	chr8:54654853..54656684-chr8:54661881..54664357,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1483538	1.00[TSI][hapmap]
rs16919513	1.00[ASW][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919526	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919566	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16919597	1.00[TSI][hapmap]
rs56321533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57838567	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58446058	1.00[EUR][1000 genomes]
rs59122208	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59751066	1.00[EUR][1000 genomes]
rs61453862	1.00[EUR][1000 genomes]
rs6473892	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680307	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73680313	1.00[EUR][1000 genomes]
rs73680318	1.00[EUR][1000 genomes]
rs73680324	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73682541	1.00[EUR][1000 genomes]
rs73682550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73682559	1.00[EUR][1000 genomes]
rs7845915	1.00[GIH][hapmap]

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	chr8:54627400-54663400	Weak transcription	Hela-S3	cervix
2	chr8:54642600-54672800	Weak transcription	Right Ventricle	heart
3	chr8:54645600-54671400	Weak transcription	NHLF	lung
4	chr8:54646000-54672600	Weak transcription	Psoas Muscle	Psoas
5	chr8:54647200-54666600	Weak transcription	Brain Substantia Nigra	brain
6	chr8:54647600-54666600	Weak transcription	A549	lung
7	chr8:54648600-54667200	Weak transcription	HSMMtube	muscle
8	chr8:54650200-54663400	Weak transcription	Brain Germinal Matrix	brain
9	chr8:54650200-54671000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:54650200-54707400	Weak transcription	HUVEC	blood vessel
11	chr8:54651400-54663200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:54651400-54670400	Weak transcription	Fetal Brain Male	brain
13	chr8:54652800-54673000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:54653400-54670000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:54655400-54663400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:54655400-54669600	Weak transcription	Esophagus	oesophagus
17	chr8:54655400-54703600	Weak transcription	Brain Angular Gyrus	brain
18	chr8:54655600-54663000	Weak transcription	Fetal Lung	lung
19	chr8:54655600-54665600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:54655600-54666800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:54655600-54666800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:54655600-54667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:54655600-54672400	Weak transcription	Fetal Heart	heart
24	chr8:54655800-54671000	Weak transcription	Fetal Brain Female	brain
25	chr8:54655800-54726000	Weak transcription	Colonic Mucosa	Colon
26	chr8:54656200-54666400	Weak transcription	Placenta	Placenta
27	chr8:54656200-54666800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:54656400-54663400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:54656400-54663600	Weak transcription	Osteobl	bone
30	chr8:54656400-54666000	Weak transcription	Fetal Stomach	stomach
31	chr8:54656400-54666000	Weak transcription	HSMM	muscle
32	chr8:54656400-54666600	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:54656400-54666800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:54656400-54667000	Weak transcription	Spleen	Spleen
35	chr8:54656400-54669600	Weak transcription	Gastric	stomach
36	chr8:54656400-54672600	Weak transcription	Small Intestine	intestine
37	chr8:54656600-54666400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:54656600-54676200	Weak transcription	Aorta	Aorta
39	chr8:54656800-54667000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:54656800-54669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:54656800-54680200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr8:54657000-54663200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:54657000-54663400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr8:54657000-54666000	Weak transcription	Thymus	Thymus
45	chr8:54657000-54666600	Weak transcription	Ovary	ovary
46	chr8:54657000-54672600	Weak transcription	HepG2	liver
47	chr8:54657200-54663000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:54657200-54664400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr8:54657200-54666600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:54657400-54666600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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