Variant report

Variant	rs11748472
Chromosome Location	chr5:46377660-46377661
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10053628	0.93[AFR][1000 genomes]
rs10054179	0.87[AFR][1000 genomes]
rs10054540	0.82[AFR][1000 genomes]
rs10055898	0.86[AFR][1000 genomes]
rs10058065	0.87[AFR][1000 genomes]
rs10059207	0.82[AFR][1000 genomes]
rs10060408	0.83[AFR][1000 genomes]
rs10062139	0.83[AFR][1000 genomes]
rs10071996	0.83[AFR][1000 genomes]
rs10076113	0.80[AFR][1000 genomes]
rs10080117	0.83[AFR][1000 genomes]
rs10213721	0.95[AFR][1000 genomes]
rs10214016	0.85[AFR][1000 genomes]
rs10214118	0.92[AFR][1000 genomes]
rs10214255	0.95[AFR][1000 genomes]
rs10462113	0.81[AFR][1000 genomes]
rs10941803	0.84[AFR][1000 genomes]
rs10941823	0.87[AFR][1000 genomes]
rs11744550	0.80[AFR][1000 genomes]
rs11750244	0.80[AFR][1000 genomes]
rs12513540	0.95[AFR][1000 genomes]
rs12518698	0.92[AFR][1000 genomes]
rs12522625	0.84[AFR][1000 genomes]
rs12657568	0.93[AFR][1000 genomes]
rs13157277	0.94[AFR][1000 genomes]
rs13187523	0.89[AFR][1000 genomes]
rs13187720	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs13354339	0.83[AFR][1000 genomes]
rs13358908	0.84[AFR][1000 genomes]
rs28816502	0.93[AFR][1000 genomes]
rs28847123	0.94[AFR][1000 genomes]
rs28855077	0.92[AFR][1000 genomes]
rs34101830	0.82[AFR][1000 genomes]
rs36019653	0.83[AFR][1000 genomes]
rs36031455	0.92[AFR][1000 genomes]
rs4975899	0.85[AFR][1000 genomes]
rs4975904	0.84[AFR][1000 genomes]
rs4975938	0.87[AFR][1000 genomes]
rs4975940	0.94[AFR][1000 genomes]
rs4975942	0.93[AFR][1000 genomes]
rs4975943	0.92[AFR][1000 genomes]
rs4975944	0.89[AFR][1000 genomes]
rs61351693	0.82[AFR][1000 genomes]
rs7293371	0.85[AFR][1000 genomes]
rs7293440	0.95[AFR][1000 genomes]
rs7293442	0.93[AFR][1000 genomes]
rs7293446	0.95[AFR][1000 genomes]
rs8185006	0.81[AFR][1000 genomes]
rs8185011	0.88[AFR][1000 genomes]
rs8185088	0.87[AFR][1000 genomes]
rs8185220	0.82[AFR][1000 genomes]
rs8185247	0.80[AFR][1000 genomes]
rs8185248	0.81[AFR][1000 genomes]
rs8185288	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs8185303	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs8185329	0.91[AFR][1000 genomes]
rs8185354	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs8185356	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8188228	0.94[AFR][1000 genomes]
rs8188256	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027084	chr5:45675353-46389261	ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1024533	chr5:45840303-46389261	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1035033	chr5:45898541-46389261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1020758	chr5:45899779-46389261	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1024568	chr5:45905997-46389261	Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1028073	chr5:45906782-46389261	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1023025	chr5:45916036-46389261	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1034474	chr5:45921127-46389261	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1017281	chr5:45922311-46389261	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1025907	chr5:45931038-46389261	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1027296	chr5:45939287-46389261	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1023770	chr5:45953688-46389261	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1025880	chr5:46000763-46389261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1017988	chr5:46035145-46389261	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1034670	chr5:46101845-46389261	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1028712	chr5:46106823-46389261	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1019374	chr5:46115828-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1018733	chr5:46136820-46389261	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1028954	chr5:46151819-46389261	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1029174	chr5:46152428-46389261	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1027538	chr5:46161510-46389261	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1020350	chr5:46191236-46389261	ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv1028629	chr5:46195871-46389261	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv598016	chr5:46199395-46399274	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv1016871	chr5:46199422-46389261	ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv1028468	chr5:46209287-46382640	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv1032169	chr5:46209287-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv1017681	chr5:46209870-46389261	ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv1034011	chr5:46224012-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv1029514	chr5:46246501-46389261	ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv1019933	chr5:46251306-46389261	ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv1032372	chr5:46270996-46389261	ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	esv19788	chr5:46271528-46405359	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
34	nsv598083	chr5:46276787-46399274	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	nsv1021211	chr5:46278212-46389261	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv1031446	chr5:46313335-46389261	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	nsv1029954	chr5:46326176-46389261	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:46377600-46377800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:46377600-46377800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
3	chr5:46377600-46377800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:46377600-46377800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr5:46377600-46377800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
6	chr5:46377600-46377800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
7	chr5:46377600-46377800	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
8	chr5:46377600-46377800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
9	chr5:46377600-46377800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:46377600-46377800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr5:46377600-46377800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:46377600-46377800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr5:46377600-46377800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:46377600-46377800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
15	chr5:46377600-46377800	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
16	chr5:46377600-46377800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:46377600-46377800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr5:46377600-46377800	Enhancers	Aorta	Aorta
19	chr5:46377600-46377800	ZNF genes & repeats	Brain Angular Gyrus	brain
20	chr5:46377600-46377800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
21	chr5:46377600-46377800	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr5:46377600-46377800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
23	chr5:46377600-46377800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:46377600-46377800	ZNF genes & repeats	Brain Substantia Nigra	brain
25	chr5:46377600-46377800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
26	chr5:46377600-46377800	ZNF genes & repeats	Colon Smooth Muscle	Colon
27	chr5:46377600-46377800	ZNF genes & repeats	Esophagus	oesophagus
28	chr5:46377600-46377800	ZNF genes & repeats	Fetal Brain Male	brain
29	chr5:46377600-46377800	ZNF genes & repeats	Fetal Kidney	kidney
30	chr5:46377600-46377800	ZNF genes & repeats	Fetal Lung	lung
31	chr5:46377600-46377800	ZNF genes & repeats	Gastric	stomach
32	chr5:46377600-46377800	ZNF genes & repeats	Left Ventricle	heart
33	chr5:46377600-46377800	Flanking Bivalent TSS/Enh	Pancreas	Pancrea
34	chr5:46377600-46377800	Enhancers	Psoas Muscle	Psoas
35	chr5:46377600-46377800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
36	chr5:46377600-46377800	ZNF genes & repeats	Right Atrium	heart
37	chr5:46377600-46377800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
38	chr5:46377600-46377800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
39	chr5:46377600-46377800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
40	chr5:46377600-46377800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
41	chr5:46377600-46377800	ZNF genes & repeats	Small Intestine	intestine
42	chr5:46377600-46377800	ZNF genes & repeats	Stomach Mucosa	stomach
43	chr5:46377600-46377800	Enhancers	Thymus	Thymus
44	chr5:46377600-46377800	Flanking Bivalent TSS/Enh	Spleen	Spleen
45	chr5:46377600-46377800	ZNF genes & repeats	HSMMtube	muscle
46	chr5:46377600-46377800	Enhancers	K562	blood
47	chr5:46377600-46377800	ZNF genes & repeats	NH-A	brain
48	chr5:46377600-46378000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
49	chr5:46377600-46378000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:46377600-46378000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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