Variant report

Variant	rs9986303
Chromosome Location	chr5:112166031-112166032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11241181	1.00[AMR][1000 genomes]
rs11750684	1.00[AMR][1000 genomes]
rs13361581	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13362040	0.81[AFR][1000 genomes]
rs13436450	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1441368	1.00[AMR][1000 genomes]
rs1441369	1.00[AMR][1000 genomes]
rs2464806	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2464812	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491687	0.83[AFR][1000 genomes]
rs369952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs380589	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392179	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs415045	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs464338	1.00[AMR][1000 genomes]
rs468293	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs469336	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4705617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4705753	1.00[AMR][1000 genomes]
rs7718899	1.00[AMR][1000 genomes]
rs9326864	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112103000-112173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
4	chr5:112132000-112174000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:112136600-112176200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:112149400-112176400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr5:112149800-112166400	Strong transcription	Fetal Thymus	thymus
10	chr5:112150200-112177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:112150400-112166600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:112151400-112176400	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr5:112152000-112170400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:112152000-112183800	Weak transcription	Gastric	stomach
15	chr5:112152200-112172000	Weak transcription	NHLF	lung
16	chr5:112153200-112169600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:112153200-112179400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112153200-112179800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr5:112154000-112175200	Weak transcription	Stomach Mucosa	stomach
20	chr5:112154400-112179400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:112154600-112177800	Strong transcription	Primary T cells from cord blood	blood
22	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
23	chr5:112155200-112173600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr5:112155800-112173400	Weak transcription	Pancreas	Pancrea
25	chr5:112155800-112173800	Weak transcription	Hela-S3	cervix
26	chr5:112156000-112173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:112156000-112173400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr5:112156000-112173400	Weak transcription	Fetal Heart	heart
29	chr5:112156200-112179000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:112158600-112173200	Weak transcription	Fetal Kidney	kidney
31	chr5:112158800-112173400	Weak transcription	Fetal Brain Male	brain
32	chr5:112160600-112166800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:112160600-112176200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr5:112160800-112166200	Strong transcription	Brain Substantia Nigra	brain
35	chr5:112160800-112168400	Strong transcription	Adipose Nuclei	Adipose
36	chr5:112160800-112168600	Strong transcription	Dnd41	blood
37	chr5:112160800-112168800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:112161000-112166600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:112162000-112172800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr5:112162000-112175200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:112162400-112166200	Strong transcription	Primary B cells from peripheral blood	blood
42	chr5:112162400-112166800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:112162400-112167800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr5:112162400-112168800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr5:112162400-112171000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:112162600-112166600	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:112162600-112168000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112162600-112174600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:112162800-112166200	Strong transcription	Brain Anterior Caudate	brain
50	chr5:112162800-112166200	Strong transcription	HepG2	liver

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