Variant report

Variant	rs62413382
Chromosome Location	chr6:80280278-80280279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:80280191..80281527-chr6:80382018..80383050,5	K562	blood:
2	chr6:80279995..80281714-chr6:80381655..80383225,21	MCF-7	breast:
3	chr6:80280191..80280876-chr6:80423119..80423664,3	MCF-7	breast:
4	chr6:80280090..80282233-chr6:80340167..80342160,2	K562	blood:
5	chr6:80280197..80280802-chr6:80577120..80578118,2	MCF-7	breast:
6	chr6:80280137..80281094-chr6:80382107..80382882,6	MCF-7	breast:
7	chr6:80280173..80280802-chr6:80423107..80423815,2	MCF-7	breast:
8	chr6:80280186..80280816-chr6:80423216..80423767,2	K562	blood:
9	chr6:80274259..80277516-chr6:80279204..80282534,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198478	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10498921	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1158770	1.00[ASN][1000 genomes]
rs1158771	1.00[ASN][1000 genomes]
rs11965020	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11966497	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1485370	0.84[ASN][1000 genomes]
rs1485372	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1504368	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16890774	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890835	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890850	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890862	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16890875	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17335231	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727505	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575204	1.00[ASN][1000 genomes]
rs2575208	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655666	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655677	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655679	0.86[ASN][1000 genomes]
rs2655680	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2655703	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2803188	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803189	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803197	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41269343	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830218	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55989614	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56087572	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56745436	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61152095	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411332	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62411348	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413360	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413362	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62413363	0.84[AMR][1000 genomes]
rs62413366	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413368	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413370	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413371	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62413372	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413377	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413380	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413385	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413387	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413388	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413389	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413390	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413391	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413395	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413396	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62413399	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62413401	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62413416	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62413421	0.81[AMR][1000 genomes]
rs6454124	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6454125	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6907133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917186	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6920635	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921102	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925212	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926534	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934060	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747413	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73750727	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7745158	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745429	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749776	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760677	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761245	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763266	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763268	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768651	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7768724	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7769778	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7772722	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775232	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs992872	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv830707	chr6:80134625-80325171	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1029259	chr6:80142754-80340332	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv463906	chr6:80240951-80313297	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv604052	chr6:80240951-80313297	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80256000-80280600	Weak transcription	Adipose Nuclei	Adipose
2	chr6:80260800-80280400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr6:80260800-80283000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:80275000-80280400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:80277600-80280800	Weak transcription	Hela-S3	cervix
6	chr6:80277800-80280400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:80278000-80287400	Weak transcription	Small Intestine	intestine
8	chr6:80278400-80280400	Enhancers	Fetal Intestine Small	intestine
9	chr6:80278400-80280600	Enhancers	Fetal Intestine Large	intestine
10	chr6:80278600-80280400	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:80278600-80280400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:80278600-80281000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr6:80278600-80283000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:80278800-80280400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:80278800-80280400	Enhancers	Stomach Mucosa	stomach
16	chr6:80278800-80281200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr6:80279000-80281000	Enhancers	Fetal Brain Male	brain
18	chr6:80279200-80280400	Enhancers	HSMM	muscle
19	chr6:80279200-80280600	Enhancers	Fetal Kidney	kidney
20	chr6:80279200-80280600	Enhancers	Fetal Lung	lung
21	chr6:80279200-80281000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:80279200-80281000	Enhancers	HepG2	liver
23	chr6:80279400-80280400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:80279400-80280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:80279400-80280600	Enhancers	HMEC	breast
26	chr6:80279400-80280600	Enhancers	HUVEC	blood vessel
27	chr6:80279400-80281000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:80279400-80281000	Enhancers	HSMMtube	muscle
29	chr6:80279400-80281000	Enhancers	NH-A	brain
30	chr6:80279400-80287600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:80279600-80280400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr6:80279600-80280600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:80279600-80280600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:80279600-80280600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr6:80279600-80281000	Enhancers	NHEK	skin
36	chr6:80279800-80280400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:80279800-80280800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr6:80279800-80284600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:80280000-80280400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr6:80280000-80280600	Enhancers	Aorta	Aorta
41	chr6:80280000-80280600	Enhancers	Colon Smooth Muscle	Colon
42	chr6:80280000-80280600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:80280000-80280600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:80280000-80280600	Enhancers	A549	lung
45	chr6:80280000-80280800	Enhancers	Osteobl	bone
46	chr6:80280200-80280400	Enhancers	Brain Hippocampus Middle	brain
47	chr6:80280200-80280400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr6:80280200-80280400	Active TSS	Fetal Brain Female	brain
49	chr6:80280200-80280600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:80280200-80280600	Flanking Active TSS	Brain Anterior Caudate	brain

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