Variant report

Variant	rs616268
Chromosome Location	chr13:51086325-51086326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:51085819..51089100-chr13:51090794..51093089,4	K562	blood:
2	chr13:51066276..51068266-chr13:51086109..51088000,2	K562	blood:
3	chr13:50569721..50571547-chr13:51085881..51088680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000204977	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11618527	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1262775	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1262776	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1262778	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1262779	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1262780	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1327653	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs149889	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs157164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs157165	0.85[EUR][1000 genomes]
rs157166	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs157167	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs157169	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs157173	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1626445	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630605	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1638703	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1752106	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1752107	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1753639	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201754	0.82[EUR][1000 genomes]
rs201757	0.85[EUR][1000 genomes]
rs201762	0.84[EUR][1000 genomes]
rs202346	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202347	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs202348	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs202349	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2286658	0.80[ASN][1000 genomes]
rs2429562	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3116598	0.81[EUR][1000 genomes]
rs3118903	0.82[EUR][1000 genomes]
rs495838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs975319	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs987086	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1040	chr13:51041591-51090903	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1835159	chr13:51061044-51091390	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1815534	chr13:51061044-51092946	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv1816672	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv1830736	chr13:51061044-51092946	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv1834352	chr13:51061044-51092946	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1841390	chr13:51061044-51092946	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	esv1843375	chr13:51061044-51092946	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51084000-51086400	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr13:51084200-51093200	Weak transcription	Spleen	Spleen
3	chr13:51084400-51086400	Weak transcription	NH-A	brain
4	chr13:51084400-51086600	Weak transcription	HMEC	breast
5	chr13:51084400-51093000	Weak transcription	Lung	lung
6	chr13:51084600-51086400	Enhancers	Primary B cells from peripheral blood	blood
7	chr13:51084600-51086400	Enhancers	Fetal Thymus	thymus
8	chr13:51084800-51086400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:51085200-51086600	Enhancers	Left Ventricle	heart
10	chr13:51085400-51086400	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:51085400-51086400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr13:51085400-51086400	Enhancers	Adipose Nuclei	Adipose
13	chr13:51085400-51086400	Enhancers	NHDF-Ad	bronchial
14	chr13:51085400-51086600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:51085400-51086600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr13:51085400-51086600	Enhancers	Stomach Mucosa	stomach
17	chr13:51085400-51087800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:51085600-51086400	Enhancers	Fetal Intestine Large	intestine
19	chr13:51085600-51086600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:51085600-51089200	Enhancers	Fetal Intestine Small	intestine
21	chr13:51085800-51086400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:51085800-51086400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr13:51085800-51086600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr13:51085800-51087600	Flanking Active TSS	Dnd41	blood
25	chr13:51086000-51086400	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr13:51086000-51086400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr13:51086000-51086400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:51086000-51086400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:51086000-51086400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr13:51086000-51086400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr13:51086000-51086400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:51086000-51086400	Enhancers	Brain Angular Gyrus	brain
33	chr13:51086000-51086400	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr13:51086000-51086400	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:51086000-51086400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr13:51086000-51086400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr13:51086000-51086400	Enhancers	Colonic Mucosa	Colon
38	chr13:51086000-51086400	Enhancers	Colon Smooth Muscle	Colon
39	chr13:51086000-51086400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr13:51086000-51086400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr13:51086000-51086400	Enhancers	Right Atrium	heart
42	chr13:51086000-51086600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr13:51086000-51086600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr13:51086000-51086600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:51086000-51086600	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr13:51086000-51086600	Enhancers	Fetal Heart	heart
47	chr13:51086000-51086600	Enhancers	Fetal Muscle Leg	muscle
48	chr13:51086000-51086600	Flanking Active TSS	K562	blood
49	chr13:51086000-51086800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:51086000-51087200	Active TSS	Brain Inferior Temporal Lobe	brain

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