Variant report

Variant	rs62424485
Chromosome Location	chr6:132183641-132183642
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	chr6:132183486..132185090-chr6:132187305..132189932,2	MCF-7	breast:
2	chr6:132129034..132130911-chr6:132182774..132184402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197594	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10452622	1.00[EUR][1000 genomes]
rs41286150	1.00[EUR][1000 genomes]
rs55893997	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55910745	1.00[EUR][1000 genomes]
rs56235303	1.00[EUR][1000 genomes]
rs56814151	1.00[EUR][1000 genomes]
rs59610382	1.00[EUR][1000 genomes]
rs60455745	1.00[EUR][1000 genomes]
rs61209790	1.00[EUR][1000 genomes]
rs62424475	1.00[EUR][1000 genomes]
rs62424476	0.93[EUR][1000 genomes]
rs62424477	1.00[EUR][1000 genomes]
rs62424479	1.00[EUR][1000 genomes]
rs62424480	1.00[EUR][1000 genomes]
rs62424481	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424482	1.00[EUR][1000 genomes]
rs62424483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424484	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424486	1.00[EUR][1000 genomes]
rs62424489	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424493	1.00[EUR][1000 genomes]
rs62424495	1.00[EUR][1000 genomes]
rs62424513	1.00[EUR][1000 genomes]
rs62424514	1.00[EUR][1000 genomes]
rs66564329	1.00[EUR][1000 genomes]
rs67025760	1.00[EUR][1000 genomes]
rs67619761	0.93[EUR][1000 genomes]
rs72983672	0.93[EUR][1000 genomes]
rs7741198	0.93[EUR][1000 genomes]
rs7768555	0.93[EUR][1000 genomes]
rs9483345	0.93[EUR][1000 genomes]
rs9493110	1.00[EUR][1000 genomes]
rs9493114	1.00[EUR][1000 genomes]
rs997509	0.93[EUR][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	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv7968	chr6:131917172-132321099	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv886670	chr6:132071193-132193395	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv886671	chr6:132071193-132203432	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:132147600-132199200	Weak transcription	Fetal Stomach	stomach
2	chr6:132162200-132211000	Weak transcription	Fetal Kidney	kidney
3	chr6:132163000-132213600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:132166000-132185000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:132168800-132183800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:132170600-132201800	Weak transcription	Left Ventricle	heart
7	chr6:132170800-132211200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr6:132171200-132183800	Weak transcription	Stomach Mucosa	stomach
9	chr6:132171200-132209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr6:132172400-132184600	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:132172400-132196800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:132172600-132184600	Weak transcription	Fetal Intestine Small	intestine
13	chr6:132172800-132198200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:132173000-132192600	Weak transcription	Adipose Nuclei	Adipose
15	chr6:132176800-132197000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr6:132177000-132198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:132177400-132186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:132179000-132187400	Strong transcription	HepG2	liver
19	chr6:132179000-132197000	Weak transcription	Ovary	ovary
20	chr6:132179200-132186600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:132180400-132185000	Weak transcription	HMEC	breast
22	chr6:132180400-132186200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:132180600-132184600	Weak transcription	HUVEC	blood vessel
24	chr6:132180600-132213200	Strong transcription	Liver	Liver
25	chr6:132181200-132185600	Weak transcription	HSMM	muscle
26	chr6:132181200-132185600	Weak transcription	NH-A	brain
27	chr6:132181400-132187800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr6:132181400-132189600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr6:132181400-132196800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:132181400-132199200	Weak transcription	Aorta	Aorta
31	chr6:132181800-132185000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:132182000-132184600	Weak transcription	NHLF	lung
33	chr6:132182000-132185800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:132182000-132214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:132182200-132184000	Enhancers	NHDF-Ad	bronchial
36	chr6:132182400-132185000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:132182600-132184800	Enhancers	Placenta Amnion	Placenta Amnion
38	chr6:132182600-132185200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr6:132182800-132185000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr6:132182800-132185200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr6:132182800-132186400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:132183000-132184600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:132183000-132185200	Enhancers	Placenta	Placenta
44	chr6:132183200-132184000	Enhancers	HSMMtube	muscle
45	chr6:132183200-132184000	Strong transcription	Osteobl	bone
46	chr6:132183200-132185000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:132183400-132184000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:132183400-132184000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr6:132183400-132184200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr6:132183400-132184200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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