Variant report

Variant	rs73102803
Chromosome Location	chr5:50090459-50090460
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs58366819	1.00[AFR][1000 genomes]
rs59373713	1.00[AFR][1000 genomes]
rs59756663	1.00[AFR][1000 genomes]
rs73095092	1.00[AFR][1000 genomes]
rs73097015	1.00[AFR][1000 genomes]
rs73098956	1.00[AFR][1000 genomes]
rs73098958	1.00[AFR][1000 genomes]
rs73098991	1.00[AFR][1000 genomes]
rs73101005	1.00[AFR][1000 genomes]
rs73101013	1.00[AFR][1000 genomes]
rs73101015	1.00[AFR][1000 genomes]
rs73101035	1.00[AFR][1000 genomes]
rs73101054	1.00[AFR][1000 genomes]
rs73101059	1.00[AFR][1000 genomes]
rs73101061	1.00[AFR][1000 genomes]
rs73101079	1.00[AFR][1000 genomes]
rs73101091	1.00[AFR][1000 genomes]
rs73102821	1.00[AFR][1000 genomes]
rs73102889	1.00[AFR][1000 genomes]
rs73102891	1.00[AFR][1000 genomes]
rs73102901	1.00[AFR][1000 genomes]
rs73102902	1.00[AFR][1000 genomes]
rs73104807	1.00[AFR][1000 genomes]
rs73104814	1.00[AFR][1000 genomes]
rs73104820	1.00[AFR][1000 genomes]
rs73104823	1.00[AFR][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	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1016237	chr5:49986171-50118816	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv537761	chr5:49986171-50118816	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv1034445	chr5:49986171-50492609	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv598116	chr5:50064292-50318550	Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50052800-50098800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:50056800-50126400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:50057800-50090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:50058000-50090600	Weak transcription	Aorta	Aorta
5	chr5:50058200-50092400	Weak transcription	Colon Smooth Muscle	Colon
6	chr5:50064000-50126800	Weak transcription	Osteobl	bone
7	chr5:50068800-50090600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:50069600-50093400	Weak transcription	HMEC	breast
9	chr5:50069600-50095400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:50069600-50095400	Weak transcription	Fetal Lung	lung
11	chr5:50069600-50100000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr5:50070600-50098000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:50071400-50090600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:50071400-50093000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:50071400-50098200	Weak transcription	Fetal Intestine Small	intestine
16	chr5:50071400-50099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:50071400-50108000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr5:50071600-50138200	Weak transcription	Placenta	Placenta
19	chr5:50072200-50093400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:50073400-50092400	Weak transcription	Fetal Muscle Leg	muscle
21	chr5:50073600-50095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:50075400-50092200	Weak transcription	Right Ventricle	heart
23	chr5:50076600-50090800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:50078000-50090600	Weak transcription	Esophagus	oesophagus
25	chr5:50078200-50140000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:50081000-50095000	Weak transcription	NHLF	lung
27	chr5:50081200-50092200	Strong transcription	Primary B cells from cord blood	blood
28	chr5:50081200-50098200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:50081400-50097400	Strong transcription	Primary T cells from cord blood	blood
30	chr5:50081400-50098200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:50081600-50091200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:50081600-50098600	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:50081600-50098800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr5:50081800-50095200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:50082400-50095400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr5:50083000-50090600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:50083000-50090600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:50083200-50090600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:50083200-50092200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr5:50083200-50092400	Weak transcription	Fetal Muscle Trunk	muscle
41	chr5:50083200-50095200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:50083200-50098800	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:50083200-50116800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:50083400-50092600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:50083400-50092600	Weak transcription	Brain Angular Gyrus	brain
46	chr5:50083400-50092800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:50083400-50095400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr5:50083400-50097400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:50084200-50096000	Strong transcription	Dnd41	blood
50	chr5:50084200-50096400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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