Variant report

Variant	rs1322551
Chromosome Location	chr6:76572739-76572740
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76572406..76574229-chr6:76576124..76578272,2	K562	blood:

Variant related genes	Relation type
ENSG00000196586	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10806048	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10943292	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11970551	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12209903	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12526227	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12662659	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1358954	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1407510	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1535501	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2004170	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2181245	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2181246	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2273859	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2312940	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2748959	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2748964	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2842538	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2842540	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2842542	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2842544	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2842546	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2842549	0.82[ASN][1000 genomes]
rs3798447	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3798448	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6934542	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs699186	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720862	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs720863	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72890648	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9294005	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9443195	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9447579	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
3	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
5	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
10	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76520200-76576400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:76541000-76590600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:76543000-76615000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:76544000-76583200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr6:76544400-76603800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:76552200-76592400	Weak transcription	HSMM	muscle
7	chr6:76552600-76592400	Weak transcription	Psoas Muscle	Psoas
8	chr6:76559600-76576000	Weak transcription	Left Ventricle	heart
9	chr6:76560000-76585800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:76560400-76583200	Weak transcription	Osteobl	bone
11	chr6:76562400-76599800	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:76562800-76572800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:76562800-76583400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr6:76563000-76580200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:76563000-76585400	Weak transcription	NHDF-Ad	bronchial
16	chr6:76563400-76602800	Weak transcription	Small Intestine	intestine
17	chr6:76566200-76604600	Weak transcription	Right Ventricle	heart
18	chr6:76567000-76604400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:76567400-76572800	Weak transcription	Spleen	Spleen
20	chr6:76567400-76577400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr6:76567600-76576200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr6:76567600-76576200	Weak transcription	HMEC	breast
23	chr6:76567600-76584000	Weak transcription	Fetal Heart	heart
24	chr6:76567600-76598600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:76567600-76604200	Weak transcription	NHLF	lung
26	chr6:76567800-76572800	Weak transcription	Fetal Kidney	kidney
27	chr6:76568600-76573600	Strong transcription	Fetal Intestine Large	intestine
28	chr6:76568800-76574400	Strong transcription	Liver	Liver
29	chr6:76568800-76577600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr6:76569000-76574000	Strong transcription	Adipose Nuclei	Adipose
31	chr6:76569200-76577200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr6:76569200-76577600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:76569400-76577200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr6:76569600-76572800	Weak transcription	Colonic Mucosa	Colon
35	chr6:76569600-76574800	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr6:76569600-76577800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:76569800-76573400	Weak transcription	Esophagus	oesophagus
38	chr6:76569800-76574400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:76570200-76573800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr6:76570400-76577400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr6:76570400-76580400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:76570600-76577400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr6:76571000-76574400	Strong transcription	HUVEC	blood vessel
44	chr6:76571200-76574800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:76571200-76592400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr6:76571400-76572800	Weak transcription	Fetal Stomach	stomach
47	chr6:76571400-76574200	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:76571400-76582200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr6:76571400-76583400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr6:76571600-76575000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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