Variant report

Variant	rs56814151
Chromosome Location	chr6:132188167-132188168
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	chr6:132127827..132130153-chr6:132187107..132188900,2	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[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893997	1.00[EUR][1000 genomes]
rs55910745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235303	1.00[EUR][1000 genomes]
rs59610382	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60455745	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61209790	0.83[AMR][1000 genomes];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	1.00[EUR][1000 genomes]
rs62424482	1.00[EUR][1000 genomes]
rs62424483	1.00[EUR][1000 genomes]
rs62424484	1.00[EUR][1000 genomes]
rs62424485	1.00[EUR][1000 genomes]
rs62424486	1.00[EUR][1000 genomes]
rs62424489	1.00[EUR][1000 genomes]
rs62424493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424495	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62424514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66564329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67025760	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67619761	1.00[AMR][1000 genomes];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:53 , 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	chr6:132170600-132201800	Weak transcription	Left Ventricle	heart
5	chr6:132170800-132211200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:132171200-132209400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:132172400-132196800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:132172800-132198200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:132173000-132192600	Weak transcription	Adipose Nuclei	Adipose
10	chr6:132176800-132197000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:132177000-132198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:132179000-132197000	Weak transcription	Ovary	ovary
13	chr6:132180600-132213200	Strong transcription	Liver	Liver
14	chr6:132181400-132189600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:132181400-132196800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr6:132181400-132199200	Weak transcription	Aorta	Aorta
17	chr6:132182000-132214200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr6:132184200-132189000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:132184400-132209400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr6:132184800-132213200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:132185000-132198800	Weak transcription	Fetal Intestine Small	intestine
22	chr6:132185200-132198200	Weak transcription	Placenta	Placenta
23	chr6:132185200-132217200	Weak transcription	Psoas Muscle	Psoas
24	chr6:132185400-132190800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr6:132185400-132194000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:132185600-132188200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:132185600-132197000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:132185600-132201600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:132185600-132201800	Weak transcription	Fetal Intestine Large	intestine
30	chr6:132185800-132201000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:132185800-132212600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr6:132186200-132189000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:132186200-132196800	Weak transcription	NH-A	brain
34	chr6:132186200-132199400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:132186200-132213800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:132186600-132188200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:132186600-132212400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr6:132186800-132189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:132186800-132190400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr6:132186800-132191000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:132186800-132194200	Weak transcription	HSMM	muscle
42	chr6:132187400-132190000	Genic enhancers	HepG2	liver
43	chr6:132187600-132188200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:132187600-132189000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:132187800-132188600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr6:132187800-132189000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr6:132187800-132189200	Weak transcription	Osteobl	bone
48	chr6:132187800-132189400	Enhancers	NHDF-Ad	bronchial
49	chr6:132188000-132188200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr6:132188000-132188600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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