Variant report

Variant	rs73101097
Chromosome Location	chr5:50082976-50082977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs57196044	0.97[AFR][1000 genomes]
rs6889539	0.97[AFR][1000 genomes]
rs73101083	0.94[AFR][1000 genomes]
rs73101089	0.94[AFR][1000 genomes]
rs73101096	1.00[AFR][1000 genomes]
rs73102806	1.00[AFR][1000 genomes]
rs73102811	0.97[AFR][1000 genomes]
rs73102813	0.97[AFR][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	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	nsv598110	chr5:49988020-50089919	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv462163	chr5:49989701-50088317	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv598113	chr5:49989701-50088317	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv598114	chr5:49991561-50088317	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:50041800-50090000	Weak transcription	Small Intestine	intestine
2	chr5:50051200-50084600	Weak transcription	NHEK	skin
3	chr5:50052800-50098800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:50056800-50126400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:50057800-50084600	Weak transcription	Ovary	ovary
6	chr5:50057800-50090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:50058000-50090600	Weak transcription	Aorta	Aorta
8	chr5:50058200-50084600	Weak transcription	Fetal Thymus	thymus
9	chr5:50058200-50092400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:50060200-50084600	Weak transcription	Thymus	Thymus
11	chr5:50064000-50084400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:50064000-50126800	Weak transcription	Osteobl	bone
13	chr5:50066800-50084200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:50068000-50084600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:50068800-50090600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:50069000-50086400	Weak transcription	Stomach Mucosa	stomach
17	chr5:50069400-50084200	Weak transcription	Liver	Liver
18	chr5:50069600-50084200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:50069600-50084400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:50069600-50084600	Weak transcription	Left Ventricle	heart
21	chr5:50069600-50084600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:50069600-50093400	Weak transcription	HMEC	breast
23	chr5:50069600-50095400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:50069600-50095400	Weak transcription	Fetal Lung	lung
25	chr5:50069600-50100000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:50070600-50098000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:50071000-50084600	Weak transcription	Pancreas	Pancrea
28	chr5:50071400-50084600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:50071400-50090600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:50071400-50093000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:50071400-50098200	Weak transcription	Fetal Intestine Small	intestine
32	chr5:50071400-50099000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:50071400-50108000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:50071600-50084200	Weak transcription	Fetal Intestine Large	intestine
35	chr5:50071600-50086600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:50071600-50138200	Weak transcription	Placenta	Placenta
37	chr5:50071800-50084200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:50072200-50084200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:50072200-50084200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:50072200-50093400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:50072400-50084200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:50072400-50086400	Weak transcription	HSMMtube	muscle
43	chr5:50073200-50084200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:50073400-50092400	Weak transcription	Fetal Muscle Leg	muscle
45	chr5:50073600-50095600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:50073800-50084400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:50075200-50087000	Weak transcription	Fetal Kidney	kidney
48	chr5:50075200-50089200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr5:50075400-50092200	Weak transcription	Right Ventricle	heart
50	chr5:50075600-50084200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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