Variant report

Variant	rs73343719
Chromosome Location	chr7:56046421-56046422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10257154	0.82[ASN][1000 genomes]
rs11489729	0.98[AFR][1000 genomes]
rs13222500	0.87[EUR][1000 genomes]
rs13222893	0.82[EUR][1000 genomes]
rs13223226	0.81[ASN][1000 genomes]
rs13232723	0.82[EUR][1000 genomes]
rs13232756	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13236894	0.86[EUR][1000 genomes]
rs13238152	0.84[EUR][1000 genomes]
rs13238424	0.89[EUR][1000 genomes]
rs13239795	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13241227	0.84[EUR][1000 genomes]
rs13243725	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13340526	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2242510	0.89[EUR][1000 genomes]
rs28498258	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34015089	0.87[EUR][1000 genomes]
rs34057777	0.86[EUR][1000 genomes]
rs34114241	0.84[EUR][1000 genomes]
rs34287940	0.84[EUR][1000 genomes]
rs34304703	0.91[EUR][1000 genomes]
rs34372667	0.86[EUR][1000 genomes]
rs34667212	0.84[EUR][1000 genomes]
rs34719181	0.87[EUR][1000 genomes]
rs34719521	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34874704	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35092795	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35160834	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35208675	0.82[EUR][1000 genomes]
rs35210477	0.84[EUR][1000 genomes]
rs35304280	0.82[EUR][1000 genomes]
rs35307785	0.89[EUR][1000 genomes]
rs35551160	0.84[EUR][1000 genomes]
rs35704704	0.84[EUR][1000 genomes]
rs35811559	0.82[EUR][1000 genomes]
rs3735066	0.89[EUR][1000 genomes]
rs3813504	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4360246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56917729	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60007968	0.96[AFR][1000 genomes]
rs71543770	0.87[EUR][1000 genomes]
rs71543773	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71543784	0.89[EUR][1000 genomes]
rs71543785	0.89[EUR][1000 genomes]
rs73343714	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs924900	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers 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	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr7:56033200-56048600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:56033200-56050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:56033200-56081400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:56033400-56047000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:56033400-56047600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:56033800-56046800	Weak transcription	GM12878-XiMat	blood
7	chr7:56033800-56046800	Weak transcription	NHLF	lung
8	chr7:56033800-56047200	Weak transcription	Colonic Mucosa	Colon
9	chr7:56033800-56047800	Weak transcription	HMEC	breast
10	chr7:56033800-56063000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:56033800-56065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr7:56034000-56046800	Weak transcription	NHEK	skin
13	chr7:56039000-56047000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr7:56039000-56047200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:56039000-56047600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:56039200-56047000	Weak transcription	Esophagus	oesophagus
17	chr7:56039200-56081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:56039400-56047000	Weak transcription	Right Ventricle	heart
19	chr7:56039400-56047200	Weak transcription	Fetal Intestine Small	intestine
20	chr7:56039400-56047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:56039400-56062400	Weak transcription	Stomach Mucosa	stomach
22	chr7:56040800-56048200	Weak transcription	Small Intestine	intestine
23	chr7:56043800-56046600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:56043800-56049800	Strong transcription	Primary B cells from cord blood	blood
25	chr7:56044000-56053200	Strong transcription	Primary T cells from cord blood	blood
26	chr7:56044600-56050600	Weak transcription	Psoas Muscle	Psoas
27	chr7:56045000-56067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:56045200-56068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:56045400-56049800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:56045400-56050000	Strong transcription	Hela-S3	cervix
31	chr7:56045400-56051600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:56045400-56054000	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:56045400-56054000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr7:56045400-56055000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:56045400-56057400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:56045400-56057400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:56045400-56057600	Strong transcription	Dnd41	blood
38	chr7:56045400-56059200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:56045400-56067000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:56045400-56067000	Strong transcription	Liver	Liver
41	chr7:56045400-56067200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:56045400-56067400	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:56045600-56048800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr7:56045600-56049400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:56045600-56049800	Strong transcription	Aorta	Aorta
46	chr7:56045600-56051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:56045600-56051600	Strong transcription	HepG2	liver
48	chr7:56045600-56053000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr7:56045600-56053200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr7:56045600-56053600	Strong transcription	Primary hematopoietic stem cells	blood

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