Variant report

Variant	rs6601282
Chromosome Location	chr8:8928798-8928799
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	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10087416	1.00[CHB][hapmap]
rs1045527	0.81[CEU][hapmap]
rs11775788	1.00[CHB][hapmap]
rs11779660	1.00[CHB][hapmap]
rs11780338	1.00[CHB][hapmap]
rs11781203	1.00[CHB][hapmap]
rs11785819	0.82[CEU][hapmap]
rs11787026	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs12114954	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs13252797	0.81[CEU][hapmap]
rs13263364	1.00[CHB][hapmap]
rs13271797	0.81[CEU][hapmap]
rs1530484	1.00[CHB][hapmap]
rs17155334	1.00[CHB][hapmap]
rs17646197	1.00[CHB][hapmap]
rs17701980	1.00[CHB][hapmap]
rs17702602	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs3855900	0.81[EUR][1000 genomes]
rs3989373	0.81[EUR][1000 genomes]
rs6601279	0.80[EUR][1000 genomes]
rs6601280	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6601281	0.81[EUR][1000 genomes]
rs6748	0.81[CEU][hapmap]
rs6981060	0.80[EUR][1000 genomes]
rs6981610	1.00[CHB][hapmap]
rs6982619	1.00[CHB][hapmap]
rs6983877	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs7017868	0.82[CEU][hapmap]
rs7826478	1.00[CHB][hapmap]
rs7830266	1.00[CHB][hapmap]
rs7846007	1.00[CHB][hapmap]
rs7846644	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9329175	1.00[CHB][hapmap]
rs9650616	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6601282	C8orf5	Cis_chr	lymphoblastoid	RTeQTL
rs6601282	RP11-62H7.2	cis	Thyroid	GTEx
rs6601282	THEX1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8923800-8929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:8923800-8932000	Weak transcription	A549	lung
4	chr8:8924000-8932000	Weak transcription	Right Atrium	heart
5	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr8:8924000-8937800	Weak transcription	Lung	lung
7	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
8	chr8:8924200-8930400	Weak transcription	Fetal Intestine Small	intestine
9	chr8:8924400-8929000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:8924600-8930200	Weak transcription	HSMM	muscle
11	chr8:8924600-8932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:8924800-8930200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:8925000-8932000	Weak transcription	Fetal Lung	lung
14	chr8:8925200-8930000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:8925200-8930200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:8925200-8932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:8925200-8932600	Weak transcription	Liver	Liver
18	chr8:8925600-8930200	Weak transcription	Fetal Heart	heart
19	chr8:8927000-8929400	Enhancers	NHDF-Ad	bronchial
20	chr8:8927400-8929400	Enhancers	HUVEC	blood vessel
21	chr8:8927800-8928800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr8:8927800-8928800	Enhancers	Ovary	ovary
23	chr8:8927800-8928800	Enhancers	NH-A	brain
24	chr8:8927800-8929200	Enhancers	Adipose Nuclei	Adipose
25	chr8:8927800-8929800	Enhancers	Fetal Muscle Leg	muscle
26	chr8:8928000-8928800	Enhancers	HSMMtube	muscle
27	chr8:8928000-8930200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:8928200-8929600	Enhancers	Aorta	Aorta
29	chr8:8928400-8929400	Enhancers	Stomach Smooth Muscle	stomach
30	chr8:8928400-8932000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:8928400-8932000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:8928600-8929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:8928600-8929400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:8928600-8929600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:8928600-8931600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:8928600-8931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:8928600-8932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:8928600-8932000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:8928600-8932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:8928600-8932000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:8928600-8932000	Weak transcription	HMEC	breast
42	chr8:8928600-8932000	Weak transcription	NHEK	skin
43	chr8:8928600-8932000	Weak transcription	Osteobl	bone
44	chr8:8928600-8933000	Weak transcription	Left Ventricle	heart
45	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
46	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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