Variant report

Variant	rs73286514
Chromosome Location	chr7:11181673-11181674
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11179754..11182412-chr7:11187476..11189973,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10226402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10227124	1.00[EUR][1000 genomes]
rs10229335	1.00[EUR][1000 genomes]
rs10230399	1.00[AMR][1000 genomes]
rs10233382	1.00[AMR][1000 genomes]
rs10235587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10237668	1.00[EUR][1000 genomes]
rs10238096	1.00[AMR][1000 genomes]
rs10242027	1.00[AMR][1000 genomes]
rs10242037	1.00[AMR][1000 genomes]
rs10242109	0.97[AFR][1000 genomes]
rs10242862	1.00[EUR][1000 genomes]
rs10245957	1.00[EUR][1000 genomes]
rs10247314	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10248983	1.00[EUR][1000 genomes]
rs10249565	1.00[EUR][1000 genomes]
rs10251314	1.00[EUR][1000 genomes]
rs10252209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10253250	1.00[EUR][1000 genomes]
rs10257302	1.00[AMR][1000 genomes]
rs10257578	1.00[EUR][1000 genomes]
rs10259271	1.00[EUR][1000 genomes]
rs10259691	1.00[AMR][1000 genomes]
rs10263081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10263908	1.00[EUR][1000 genomes]
rs10266525	1.00[EUR][1000 genomes]
rs10268993	1.00[EUR][1000 genomes]
rs10269690	1.00[EUR][1000 genomes]
rs10270849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10276348	1.00[AMR][1000 genomes]
rs10276786	1.00[AMR][1000 genomes]
rs10277295	1.00[EUR][1000 genomes]
rs10280227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17163892	1.00[EUR][1000 genomes]
rs28384108	1.00[AMR][1000 genomes]
rs28403972	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28420806	1.00[EUR][1000 genomes]
rs28444275	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454079	1.00[EUR][1000 genomes]
rs28454278	1.00[AMR][1000 genomes]
rs28489064	1.00[EUR][1000 genomes]
rs28492913	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28510200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28541920	1.00[EUR][1000 genomes]
rs28670953	1.00[EUR][1000 genomes]
rs28822717	1.00[EUR][1000 genomes]
rs4385368	1.00[AMR][1000 genomes]
rs6943346	1.00[EUR][1000 genomes]
rs6951535	1.00[EUR][1000 genomes]
rs6958196	1.00[EUR][1000 genomes]
rs6968254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6968626	1.00[EUR][1000 genomes]
rs73286507	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286519	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73286578	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS 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	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
11	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
14	nsv830901	chr7:11093455-11272219	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv916426	chr7:11095057-11201696	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv887603	chr7:11104985-11231727	Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
17	nsv1031075	chr7:11136339-11187167	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
18	nsv606195	chr7:11140383-11216782	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
19	nsv606196	chr7:11144030-11255948	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
20	nsv1029654	chr7:11147593-11263834	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
21	nsv538731	chr7:11147593-11263834	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
2	chr7:11076400-11193200	Weak transcription	Ovary	ovary
3	chr7:11102200-11189200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:11102600-11190400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:11103000-11189000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr7:11107600-11212200	Weak transcription	Fetal Kidney	kidney
7	chr7:11113200-11211800	Weak transcription	Fetal Intestine Large	intestine
8	chr7:11114600-11210000	Weak transcription	Fetal Brain Female	brain
9	chr7:11118000-11199000	Weak transcription	HSMM	muscle
10	chr7:11125400-11188000	Weak transcription	Small Intestine	intestine
11	chr7:11144600-11184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:11144600-11191000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:11148000-11192200	Weak transcription	Fetal Stomach	stomach
14	chr7:11149200-11191200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:11150800-11188200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:11156400-11209800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr7:11157000-11192600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:11157000-11199600	Weak transcription	Fetal Lung	lung
19	chr7:11160400-11188400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:11161800-11190200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr7:11162000-11182200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:11167400-11194600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:11167800-11190000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:11168200-11208800	Weak transcription	Primary T cells from cord blood	blood
25	chr7:11168400-11189600	Weak transcription	Fetal Thymus	thymus
26	chr7:11169000-11208800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr7:11170200-11195200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr7:11170400-11182200	Weak transcription	Hela-S3	cervix
29	chr7:11170600-11217400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:11170800-11198200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:11170800-11199400	Weak transcription	Psoas Muscle	Psoas
32	chr7:11170800-11199800	Weak transcription	Primary B cells from cord blood	blood
33	chr7:11171000-11187600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:11173200-11183000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:11173400-11199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:11173800-11183000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:11173800-11184000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr7:11174200-11185400	Weak transcription	Liver	Liver
39	chr7:11174800-11185200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr7:11174800-11190200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:11175000-11188000	Weak transcription	Dnd41	blood
42	chr7:11175400-11199600	Weak transcription	Left Ventricle	heart
43	chr7:11175400-11206000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:11175400-11213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:11175600-11194000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:11175800-11189200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:11175800-11201400	Weak transcription	A549	lung
48	chr7:11176000-11183000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:11177000-11187800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:11178000-11194400	Weak transcription	Fetal Intestine Small	intestine

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