Variant report

Variant	rs7838125
Chromosome Location	chr8:67035534-67035535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr8:67035152-67037868	IMR90	lung:	n/a	n/a
2	GATA3	chr8:67035447-67037047	SK-N-SH	brain:	n/a	n/a
3	JUND	chr8:67035454-67037040	SK-N-SH	brain:	n/a	chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036264-67036275 chr8:67036318-67036328 chr8:67036319-67036327 chr8:67036318-67036328 chr8:67036318-67036328 chr8:67036320-67036327 chr8:67036317-67036328

No.	Distal block	Cell Line	Cell type
1	chr8:67024509..67028261-chr8:67030729..67035819,11	K562	blood:
2	chr8:67034177..67036746-chr8:67340648..67343642,3	MCF-7	breast:
3	chr8:67023910..67027221-chr8:67034779..67037811,5	MCF-7	breast:
4	chr8:67035224..67038920-chr8:67039604..67043396,7	MCF-7	breast:
5	chr8:67030286..67032374-chr8:67034685..67037786,3	K562	blood:
6	chr8:67034311..67037696-chr8:67040504..67042918,4	MCF-7	breast:
7	chr8:67035189..67037857-chr8:67039133..67040862,2	K562	blood:

Variant related genes	Relation type
TRIM55	TF binding region
ENSG00000246145	Chromatin interaction
ENSG00000253190	Chromatin interaction
ENSG00000147573	Chromatin interaction
ENSG00000179041	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10081623	0.97[EUR][1000 genomes]
rs10091625	0.97[EUR][1000 genomes]
rs10093091	1.00[EUR][1000 genomes]
rs10099957	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104916	1.00[EUR][1000 genomes]
rs10107870	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10109602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10113208	0.83[AFR][1000 genomes]
rs10448012	0.97[EUR][1000 genomes]
rs1044938	0.97[EUR][1000 genomes]
rs1044942	0.97[EUR][1000 genomes]
rs10957367	0.87[EUR][1000 genomes]
rs11986216	1.00[EUR][1000 genomes]
rs11990370	0.97[EUR][1000 genomes]
rs11997416	1.00[EUR][1000 genomes]
rs12156080	0.97[EUR][1000 genomes]
rs12156157	0.97[EUR][1000 genomes]
rs16932527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932564	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16932632	0.97[EUR][1000 genomes]
rs1814583	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28421720	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28542552	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28703095	0.97[EUR][1000 genomes]
rs3176921	1.00[EUR][1000 genomes]
rs4279579	0.96[EUR][1000 genomes]
rs4503082	1.00[EUR][1000 genomes]
rs5030877	1.00[EUR][1000 genomes]
rs56394731	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472252	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6472254	1.00[EUR][1000 genomes]
rs6472255	1.00[EUR][1000 genomes]
rs6472256	1.00[EUR][1000 genomes]
rs6472257	0.97[EUR][1000 genomes]
rs6990624	1.00[EUR][1000 genomes]
rs6996265	1.00[EUR][1000 genomes]
rs6998761	1.00[EUR][1000 genomes]
rs6999780	0.97[EUR][1000 genomes]
rs7003017	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7003450	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7006903	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008244	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7013524	0.97[EUR][1000 genomes]
rs7816410	0.97[EUR][1000 genomes]
rs7818902	1.00[EUR][1000 genomes]
rs7820617	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7822243	1.00[EUR][1000 genomes]
rs7823108	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7823304	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7826464	1.00[EUR][1000 genomes]
rs7827407	1.00[EUR][1000 genomes]
rs7828111	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7830926	1.00[EUR][1000 genomes]
rs7831234	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7838500	1.00[EUR][1000 genomes]
rs7842707	1.00[EUR][1000 genomes]
rs7842761	1.00[EUR][1000 genomes]
rs7843038	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7843605	1.00[EUR][1000 genomes]
rs7846184	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9694082	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67027200-67035800	Weak transcription	Psoas Muscle	Psoas
2	chr8:67027200-67036200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:67027200-67036200	Weak transcription	Right Ventricle	heart
4	chr8:67027400-67035600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:67027800-67036400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:67028000-67036400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:67028200-67036200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:67031400-67037400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:67031600-67038000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:67031800-67036400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:67032000-67038800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:67032200-67036200	Weak transcription	Right Atrium	heart
13	chr8:67032200-67036400	Enhancers	NHDF-Ad	bronchial
14	chr8:67032200-67036400	Enhancers	Osteobl	bone
15	chr8:67032200-67036800	Enhancers	NH-A	brain
16	chr8:67032600-67036200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:67032600-67037000	Enhancers	Placenta	Placenta
18	chr8:67032600-67038000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:67032800-67036400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:67032800-67036600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:67033000-67035800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:67033000-67036200	Weak transcription	Left Ventricle	heart
23	chr8:67033000-67036400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:67033000-67036400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:67033200-67037200	Enhancers	GM12878-XiMat	blood
26	chr8:67033200-67037600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:67033400-67035600	Weak transcription	Liver	Liver
28	chr8:67033400-67035800	Weak transcription	Primary B cells from cord blood	blood
29	chr8:67033600-67035800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:67033600-67036000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:67033800-67035600	Weak transcription	Adipose Nuclei	Adipose
32	chr8:67033800-67035800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr8:67033800-67036400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:67033800-67039000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:67034000-67035800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr8:67034000-67036200	Weak transcription	K562	blood
37	chr8:67034400-67035600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr8:67034400-67035800	Weak transcription	Fetal Muscle Leg	muscle
39	chr8:67034400-67035800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:67034400-67036200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:67034600-67036000	Weak transcription	HepG2	liver
42	chr8:67034600-67036200	Enhancers	HSMMtube	muscle
43	chr8:67034600-67038800	Enhancers	Fetal Heart	heart
44	chr8:67034800-67035600	Weak transcription	HSMM	muscle
45	chr8:67034800-67036200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr8:67034800-67036200	Flanking Active TSS	A549	lung
47	chr8:67034800-67036400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr8:67035000-67035600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:67035000-67036000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:67035000-67036200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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