Variant report

Variant	rs1863988
Chromosome Location	chr5:115708787-115708788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs13360956	1.00[EUR][1000 genomes]
rs17139604	0.94[AFR][1000 genomes]
rs17139607	0.94[AFR][1000 genomes]
rs17139822	1.00[EUR][1000 genomes]
rs1963859	1.00[EUR][1000 genomes]
rs1991447	1.00[AMR][1000 genomes]
rs57331771	1.00[EUR][1000 genomes]
rs57894479	1.00[EUR][1000 genomes]
rs58112531	1.00[EUR][1000 genomes]
rs59453842	1.00[EUR][1000 genomes]
rs59710297	1.00[EUR][1000 genomes]
rs59909017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032314	1.00[EUR][1000 genomes]
rs60372854	1.00[EUR][1000 genomes]
rs60456887	1.00[EUR][1000 genomes]
rs73259047	1.00[EUR][1000 genomes]
rs73259060	1.00[EUR][1000 genomes]
rs73259063	1.00[EUR][1000 genomes]
rs73259071	1.00[EUR][1000 genomes]
rs73259079	1.00[EUR][1000 genomes]
rs73259092	1.00[EUR][1000 genomes]
rs73261010	1.00[EUR][1000 genomes]
rs73261020	1.00[EUR][1000 genomes]
rs73261038	1.00[EUR][1000 genomes]
rs73261087	1.00[EUR][1000 genomes]
rs73263025	1.00[EUR][1000 genomes]
rs73263035	1.00[EUR][1000 genomes]
rs73263038	1.00[EUR][1000 genomes]
rs73263042	1.00[EUR][1000 genomes]
rs73263052	1.00[EUR][1000 genomes]
rs73263062	1.00[EUR][1000 genomes]
rs73263071	1.00[EUR][1000 genomes]
rs73263076	1.00[EUR][1000 genomes]
rs73264977	1.00[EUR][1000 genomes]
rs73264993	1.00[EUR][1000 genomes]
rs73266806	1.00[EUR][1000 genomes]
rs73266807	1.00[EUR][1000 genomes]
rs73266818	1.00[EUR][1000 genomes]
rs73266825	1.00[EUR][1000 genomes]
rs73266826	1.00[EUR][1000 genomes]
rs73266833	1.00[EUR][1000 genomes]
rs73266838	1.00[EUR][1000 genomes]
rs73266848	1.00[EUR][1000 genomes]
rs73268917	1.00[EUR][1000 genomes]
rs73268920	1.00[EUR][1000 genomes]
rs73268927	1.00[EUR][1000 genomes]
rs73268929	1.00[EUR][1000 genomes]
rs73268944	1.00[EUR][1000 genomes]
rs73268948	1.00[EUR][1000 genomes]
rs73268952	1.00[EUR][1000 genomes]
rs73268959	1.00[EUR][1000 genomes]
rs73268964	1.00[EUR][1000 genomes]
rs73268967	1.00[EUR][1000 genomes]
rs73268975	1.00[EUR][1000 genomes]
rs73268979	1.00[EUR][1000 genomes]
rs73268984	1.00[EUR][1000 genomes]
rs73268993	1.00[EUR][1000 genomes]
rs73270707	1.00[EUR][1000 genomes]
rs73270746	1.00[EUR][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	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
2	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
3	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:115695800-115714600	Weak transcription	Thymus	Thymus
3	chr5:115697600-115712000	Weak transcription	Aorta	Aorta
4	chr5:115697600-115714000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea
7	chr5:115698400-115714000	Weak transcription	Right Ventricle	heart
8	chr5:115699400-115710200	Weak transcription	Primary B cells from cord blood	blood
9	chr5:115705200-115713000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:115706000-115708800	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:115706000-115708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:115706000-115724400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:115706200-115708800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:115706800-115711600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:115706800-115723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:115707000-115709600	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr5:115707200-115710600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:115707200-115711800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr5:115707200-115712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:115707200-115717000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:115707400-115708800	Enhancers	Brain Anterior Caudate	brain
22	chr5:115707400-115711200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:115707400-115711600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr5:115707400-115714400	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr5:115707400-115717200	Weak transcription	Primary T cells from cord blood	blood
26	chr5:115707400-115722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:115707600-115713200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
29	chr5:115707800-115708800	Enhancers	Spleen	Spleen
30	chr5:115708000-115709400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:115708000-115713400	Weak transcription	Fetal Kidney	kidney
32	chr5:115708200-115708800	Enhancers	Colon Smooth Muscle	Colon
33	chr5:115708200-115708800	Enhancers	Esophagus	oesophagus
34	chr5:115708200-115709200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:115708200-115709200	Enhancers	Fetal Muscle Leg	muscle
36	chr5:115708200-115710600	Enhancers	Left Ventricle	heart
37	chr5:115708200-115714600	Enhancers	Psoas Muscle	Psoas
38	chr5:115708200-115717400	Weak transcription	HUVEC	blood vessel
39	chr5:115708400-115708800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:115708400-115708800	Enhancers	Right Atrium	heart
41	chr5:115708400-115710400	Enhancers	GM12878-XiMat	blood
42	chr5:115708400-115713000	Weak transcription	Brain Hippocampus Middle	brain
43	chr5:115708400-115722400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr5:115708600-115710200	Weak transcription	Adipose Nuclei	Adipose
45	chr5:115708600-115711200	Weak transcription	HepG2	liver
46	chr5:115708600-115711600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr5:115708600-115711600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr5:115708600-115713400	Weak transcription	Lung	lung
49	chr5:115708600-115718000	Weak transcription	Fetal Intestine Small	intestine
50	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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