Variant report

Variant	rs72476666
Chromosome Location	chr13:52350417-52350418
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10467512	0.98[ASN][1000 genomes]
rs56877680	1.00[ASN][1000 genomes]
rs7985214	0.81[AFR][1000 genomes]
rs9596573	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv1840020	chr13:52345838-52388765	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	esv3520141	chr13:52346551-52351849	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv21266	chr13:52347717-52350532	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3372243	chr13:52347976-52350824	Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1816474	chr13:52348233-52350949	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv821576	chr13:52348299-52350532	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52330600-52355600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:52339400-52352000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr13:52339400-52356200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr13:52339400-52357400	Weak transcription	Colonic Mucosa	Colon
5	chr13:52339600-52356800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr13:52339600-52361400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr13:52339600-52375000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:52339800-52359800	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:52339800-52371400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr13:52339800-52375200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:52340800-52352200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:52341400-52354600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr13:52341400-52361200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr13:52341600-52352000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:52341600-52356400	Weak transcription	Brain Germinal Matrix	brain
16	chr13:52342600-52356200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:52342800-52355800	Weak transcription	Primary B cells from cord blood	blood
18	chr13:52343000-52351800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr13:52343400-52352000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr13:52343800-52360200	Weak transcription	Small Intestine	intestine
21	chr13:52344200-52351200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:52344200-52352000	Weak transcription	HSMMtube	muscle
23	chr13:52344200-52352600	Weak transcription	Esophagus	oesophagus
24	chr13:52344200-52357800	Weak transcription	HSMM	muscle
25	chr13:52344600-52355400	Weak transcription	Spleen	Spleen
26	chr13:52344600-52371800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr13:52344800-52355600	Weak transcription	Right Ventricle	heart
28	chr13:52344800-52359600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr13:52344800-52360000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:52344800-52360000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr13:52345000-52351200	Weak transcription	Adipose Nuclei	Adipose
32	chr13:52345200-52352200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr13:52345400-52355600	Weak transcription	HepG2	liver
34	chr13:52345400-52363400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:52345600-52352400	Weak transcription	Brain Substantia Nigra	brain
36	chr13:52345600-52359600	Weak transcription	Lung	lung
37	chr13:52345800-52355600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr13:52346200-52352600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr13:52346200-52355400	Weak transcription	Left Ventricle	heart
40	chr13:52346200-52355600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:52346200-52357800	Weak transcription	Primary T cells from cord blood	blood
42	chr13:52346400-52355800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr13:52346400-52356200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr13:52346400-52376000	Weak transcription	Thymus	Thymus
45	chr13:52347800-52355600	Weak transcription	Right Atrium	heart
46	chr13:52348000-52352000	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:52348000-52360000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr13:52348000-52360200	Weak transcription	Fetal Intestine Large	intestine
49	chr13:52348000-52361000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:52348200-52352400	Weak transcription	Fetal Stomach	stomach

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