Variant report

Variant	rs4476764
Chromosome Location	chr5:115528698-115528699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10035805	1.00[AFR][1000 genomes]
rs10041456	1.00[AFR][1000 genomes]
rs10057752	0.90[AFR][1000 genomes]
rs10070836	0.97[AFR][1000 genomes]
rs10078055	1.00[AFR][1000 genomes]
rs10793797	1.00[AFR][1000 genomes]
rs11241376	1.00[AFR][1000 genomes]
rs11750492	0.90[AFR][1000 genomes]
rs28857515	0.93[AFR][1000 genomes]
rs4244399	1.00[AFR][1000 genomes]
rs4244401	0.90[AFR][1000 genomes]
rs4312923	1.00[AFR][1000 genomes]
rs4327631	1.00[AFR][1000 genomes]
rs4362979	0.88[AFR][1000 genomes]
rs4533930	1.00[AFR][1000 genomes]
rs4563665	1.00[AFR][1000 genomes]
rs4610496	1.00[AFR][1000 genomes]
rs4920907	0.97[AFR][1000 genomes]
rs4921074	1.00[AFR][1000 genomes]
rs4921084	1.00[AFR][1000 genomes]
rs4921089	0.90[AFR][1000 genomes]
rs6594960	1.00[AFR][1000 genomes]
rs6885123	1.00[AFR][1000 genomes]
rs6888628	1.00[AFR][1000 genomes]
rs6894690	0.86[AFR][1000 genomes]
rs6898928	1.00[AFR][1000 genomes]
rs7720967	1.00[AFR][1000 genomes]
rs7731011	0.90[AFR][1000 genomes]
rs9687467	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882736	chr5:115254723-115552945	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv882737	chr5:115263853-115552945	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv527320	chr5:115382097-115573543	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1019972	chr5:115386860-115563533	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv537869	chr5:115386860-115563533	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1018861	chr5:115397834-115563533	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv537870	chr5:115397834-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv882739	chr5:115471015-115552945	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv882740	chr5:115482794-115540041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv882741	chr5:115484252-115552945	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1032531	chr5:115489694-115583800	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv882742	chr5:115489770-115584159	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1032338	chr5:115490345-115533527	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv537872	chr5:115490345-115533527	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv1034069	chr5:115490345-115563533	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv537873	chr5:115490345-115563533	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv882743	chr5:115501792-115634127	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1023880	chr5:115508328-115563533	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
21	nsv537874	chr5:115508328-115563533	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
22	nsv1021381	chr5:115509949-115568193	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv1023390	chr5:115514834-115537498	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv2757133	chr5:115515719-115543623	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	esv2759371	chr5:115515719-115543623	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
26	nsv524812	chr5:115517238-115584159	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
27	nsv10745	chr5:115519518-115541964	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
28	nsv1028993	chr5:115523717-115563533	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
29	nsv537875	chr5:115523717-115563533	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv1019540	chr5:115526349-115610020	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
31	nsv823185	chr5:115526441-115532574	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv965515	chr5:115526545-115546176	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:115508800-115529200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr5:115509600-115533400	Weak transcription	HSMM	muscle
5	chr5:115511800-115533200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:115512000-115529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:115518200-115529000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:115518800-115529400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr5:115518800-115529800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:115518800-115548000	Weak transcription	Psoas Muscle	Psoas
11	chr5:115520400-115528800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:115521000-115529400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr5:115521200-115530000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:115521400-115528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:115522200-115536000	Weak transcription	Primary B cells from cord blood	blood
16	chr5:115522400-115538000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr5:115522600-115536800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:115522600-115540200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:115523000-115530400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:115524400-115536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:115525200-115529000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:115525200-115529000	Weak transcription	Aorta	Aorta
23	chr5:115525200-115529200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:115525800-115560000	Weak transcription	Left Ventricle	heart
25	chr5:115526800-115529600	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr5:115527400-115528800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:115527400-115529200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr5:115527800-115539000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:115527800-115543800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:115528600-115529200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
31	chr5:115528600-115529600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr5:115528600-115536800	Weak transcription	Primary T cells from cord blood	blood

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