Variant report

Variant	rs58249696
Chromosome Location	chr7:5088826-5088827
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	chr7:5084078..5085846-chr7:5088262..5089771,2	K562	blood:

Variant related genes	Relation type
ENSG00000272968	Chromatin interaction
ENSG00000146587	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs35352738	1.00[AMR][1000 genomes]
rs56195638	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57991332	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58661020	1.00[AMR][1000 genomes]
rs58877720	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59275516	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61516427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66944023	0.90[AFR][1000 genomes]
rs6942449	1.00[AMR][1000 genomes]
rs6946191	1.00[AMR][1000 genomes]
rs6961087	1.00[AMR][1000 genomes]
rs6972601	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73316640	1.00[AMR][1000 genomes]
rs73316660	1.00[AMR][1000 genomes]
rs73330987	1.00[AMR][1000 genomes]
rs73330992	1.00[AMR][1000 genomes]
rs73330997	1.00[AMR][1000 genomes]
rs73330999	1.00[AMR][1000 genomes]
rs73331001	1.00[AMR][1000 genomes]
rs73332907	1.00[AMR][1000 genomes]
rs73332910	1.00[AMR][1000 genomes]
rs73332912	1.00[AMR][1000 genomes]
rs73332923	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332924	1.00[AMR][1000 genomes]
rs73332927	1.00[AMR][1000 genomes]
rs73332929	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332938	1.00[AMR][1000 genomes]
rs73332939	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73332942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7780624	0.82[AFR][1000 genomes]
rs7784311	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7784371	1.00[AMR][1000 genomes]
rs7788478	1.00[AMR][1000 genomes]
rs7798758	1.00[AMR][1000 genomes]
rs7803916	1.00[AMR][1000 genomes]
rs7805935	1.00[AMR][1000 genomes]
rs7808512	1.00[AMR][1000 genomes]
rs9767812	1.00[AMR][1000 genomes]
rs9768922	1.00[AMR][1000 genomes]
rs9771481	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529538	chr7:4509189-5151503	Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv1022678	chr7:4810626-5113387	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv538705	chr7:4810626-5113387	Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
8	nsv1019120	chr7:4929653-5138409	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv917078	chr7:4962123-5151633	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv966749	chr7:5036761-5098568	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv1029430	chr7:5053887-5223583	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
12	nsv1034446	chr7:5066181-5108770	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1025644	chr7:5066181-5114089	Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv1032880	chr7:5066181-5205932	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
15	nsv1030384	chr7:5066181-5210555	Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5086400-5089000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr7:5086400-5089200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:5086400-5089200	Weak transcription	Colonic Mucosa	Colon
4	chr7:5086400-5089200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:5086400-5089200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:5086400-5089400	Weak transcription	Aorta	Aorta
7	chr7:5086400-5089400	Weak transcription	Brain Angular Gyrus	brain
8	chr7:5086400-5089400	Weak transcription	Brain Substantia Nigra	brain
9	chr7:5086400-5089400	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:5086400-5089400	Weak transcription	Right Ventricle	heart
11	chr7:5086400-5089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:5086400-5089600	Weak transcription	Primary B cells from cord blood	blood
13	chr7:5086400-5089600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:5086400-5089600	Weak transcription	K562	blood
15	chr7:5086400-5089800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr7:5086400-5089800	Weak transcription	Fetal Heart	heart
17	chr7:5086400-5090000	Weak transcription	NHEK	skin
18	chr7:5086400-5091200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:5086400-5091400	Weak transcription	Brain Anterior Caudate	brain
20	chr7:5086400-5091400	Weak transcription	NHDF-Ad	bronchial
21	chr7:5086400-5092400	Weak transcription	Pancreas	Pancrea
22	chr7:5086400-5094000	Weak transcription	Small Intestine	intestine
23	chr7:5086400-5096800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:5086400-5101400	Weak transcription	Stomach Mucosa	stomach
25	chr7:5086600-5097200	Weak transcription	NHLF	lung
26	chr7:5086800-5089400	Weak transcription	HMEC	breast
27	chr7:5086800-5109200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:5087000-5089200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:5087000-5089400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:5087000-5089400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:5087000-5089400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:5087000-5089400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:5087000-5089400	Weak transcription	Fetal Intestine Small	intestine
34	chr7:5087000-5089400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:5087000-5089600	Strong transcription	Fetal Muscle Leg	muscle
36	chr7:5087000-5090000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:5087000-5090200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:5087000-5090200	Strong transcription	Fetal Stomach	stomach
39	chr7:5087000-5091400	Weak transcription	Spleen	Spleen
40	chr7:5087200-5089000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:5087200-5089200	Weak transcription	Lung	lung
42	chr7:5087200-5089400	Weak transcription	Thymus	Thymus
43	chr7:5087200-5089400	Weak transcription	GM12878-XiMat	blood
44	chr7:5087200-5089600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:5087200-5089600	Weak transcription	Fetal Brain Male	brain
46	chr7:5087200-5091200	Weak transcription	HUVEC	blood vessel
47	chr7:5087400-5089200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:5087400-5089400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:5087400-5089400	Weak transcription	Left Ventricle	heart
50	chr7:5087400-5089800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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