Variant report

Variant	rs62513125
Chromosome Location	chr8:68087710-68087711
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:68086366..68088943-chr8:68089390..68092288,2	K562	blood:
2	chr8:68086057..68088943-chr8:68089390..68093675,3	K562	blood:
3	chr8:68085116..68087997-chr8:68090501..68093415,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs62513078	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513082	1.00[EUR][1000 genomes]
rs62513127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513129	1.00[AMR][1000 genomes]
rs62513140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62513141	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1022561	chr8:68011159-68129755	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1024156	chr8:68018110-68130602	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539640	chr8:68018110-68130602	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016128	chr8:68019177-68129755	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1028249	chr8:68022357-68127243	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1029236	chr8:68022357-68129755	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv1020062	chr8:68022357-68135111	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv1025996	chr8:68025803-68129755	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv1019276	chr8:68026084-68130602	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
12	nsv539641	chr8:68026084-68130602	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv1026508	chr8:68038761-68135111	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68022800-68090800	Weak transcription	Small Intestine	intestine
2	chr8:68024200-68092400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr8:68070600-68091200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:68074800-68106200	Weak transcription	Colonic Mucosa	Colon
5	chr8:68075000-68107200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr8:68075200-68136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:68075400-68102200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:68075400-68104600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:68075600-68102800	Weak transcription	Psoas Muscle	Psoas
10	chr8:68075800-68110800	Weak transcription	HepG2	liver
11	chr8:68075800-68112200	Weak transcription	Stomach Mucosa	stomach
12	chr8:68076000-68103000	Weak transcription	NHDF-Ad	bronchial
13	chr8:68076000-68107000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr8:68076400-68087800	Weak transcription	Esophagus	oesophagus
15	chr8:68076400-68092400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr8:68076800-68109000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr8:68077200-68108000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:68078000-68087800	Weak transcription	Fetal Kidney	kidney
19	chr8:68078800-68110400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:68079000-68087800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:68079000-68094400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:68079600-68087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:68081400-68088000	Weak transcription	Brain Germinal Matrix	brain
24	chr8:68083600-68089800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:68084400-68089000	Strong transcription	Osteobl	bone
26	chr8:68084600-68090600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:68084600-68091800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:68084600-68094200	Strong transcription	Liver	Liver
29	chr8:68084600-68094400	Strong transcription	Fetal Muscle Leg	muscle
30	chr8:68084600-68098400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:68084800-68094200	Strong transcription	Primary T cells from cord blood	blood
32	chr8:68085000-68091800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:68085000-68095800	Strong transcription	Fetal Lung	lung
34	chr8:68085200-68095800	Strong transcription	Dnd41	blood
35	chr8:68085400-68095600	Strong transcription	NH-A	brain
36	chr8:68085800-68088000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:68086000-68092400	Strong transcription	Primary B cells from cord blood	blood
38	chr8:68086200-68094000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:68086400-68090600	Strong transcription	HSMM	muscle
40	chr8:68086400-68091800	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:68086400-68096600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:68086600-68089400	Strong transcription	Fetal Intestine Small	intestine
43	chr8:68086600-68089400	Strong transcription	Fetal Stomach	stomach
44	chr8:68086600-68095000	Weak transcription	Hela-S3	cervix
45	chr8:68086800-68091000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:68086800-68095600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:68087000-68088800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr8:68087000-68089000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr8:68087000-68089000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr8:68087000-68089800	Strong transcription	H1 Cell Line	embryonic stem cell

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