Variant report

Variant	rs11750510
Chromosome Location	chr5:96042095-96042096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10447215	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10515244	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11738135	0.99[EUR][1000 genomes]
rs11739280	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11744642	0.86[AMR][1000 genomes]
rs11745122	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11750399	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11750400	0.86[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12188168	1.00[EUR][1000 genomes]
rs1559085	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17082200	0.99[EUR][1000 genomes]
rs17086588	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17400685	0.85[CEU][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17400741	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17479052	0.85[CEU][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34942552	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55695458	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56116814	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs56122780	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56257788	0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs6864233	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772090	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72772091	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72772095	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96039200-96050600	Weak transcription	Gastric	stomach
2	chr5:96039200-96054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:96039200-96054400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:96039200-96054400	Weak transcription	Spleen	Spleen
5	chr5:96039200-96059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:96039400-96043200	Weak transcription	Esophagus	oesophagus
7	chr5:96039400-96043200	Weak transcription	Lung	lung
8	chr5:96039400-96050200	Weak transcription	Aorta	Aorta
9	chr5:96039600-96046200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:96039600-96063600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr5:96039800-96048000	Weak transcription	Pancreas	Pancrea
12	chr5:96039800-96049600	Weak transcription	Fetal Muscle Leg	muscle
13	chr5:96039800-96049800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:96040000-96042200	Weak transcription	Left Ventricle	heart
15	chr5:96040000-96042200	Weak transcription	Small Intestine	intestine
16	chr5:96040000-96042200	Enhancers	NHEK	skin
17	chr5:96040000-96042200	Weak transcription	NHLF	lung
18	chr5:96040000-96043200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr5:96040000-96043400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:96040000-96043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:96040000-96043400	Weak transcription	Right Atrium	heart
22	chr5:96040000-96043400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:96040000-96044200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:96040000-96044200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr5:96040000-96044200	Weak transcription	Ovary	ovary
26	chr5:96040000-96044400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:96040000-96044400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr5:96040000-96044400	Weak transcription	A549	lung
29	chr5:96040000-96044400	Weak transcription	HSMM	muscle
30	chr5:96040000-96044600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:96040000-96044600	Weak transcription	NH-A	brain
32	chr5:96040000-96044800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:96040000-96046000	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:96040000-96046600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:96040000-96047400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:96040000-96049600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr5:96040000-96049800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:96040000-96050000	Weak transcription	Primary T cells from cord blood	blood
39	chr5:96040000-96050000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:96040000-96050200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr5:96040000-96050400	Weak transcription	Primary B cells from cord blood	blood
42	chr5:96040000-96054400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:96040000-96054400	Weak transcription	Fetal Stomach	stomach
44	chr5:96040200-96042200	Weak transcription	Stomach Mucosa	stomach
45	chr5:96040200-96044400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:96040200-96044400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr5:96040200-96044400	Weak transcription	Osteobl	bone
48	chr5:96040200-96046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:96040200-96046800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr5:96040200-96049400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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