Variant report

Variant	rs6573086
Chromosome Location	chr14:56687055-56687056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:
2	chr14:56643621..56646971-chr14:56684832..56688465,3	K562	blood:
3	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:
4	chr14:56686325..56689607-chr14:56690528..56694792,5	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10782430	0.91[TSI][hapmap]
rs11158077	0.91[TSI][hapmap]
rs11158086	0.89[TSI][hapmap]
rs11622592	0.87[TSI][hapmap]
rs11623431	0.89[TSI][hapmap]
rs11623641	0.85[TSI][hapmap]
rs11627862	0.91[TSI][hapmap]
rs11845193	0.89[TSI][hapmap]
rs11847205	0.91[TSI][hapmap]
rs12432184	0.86[LWK][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap]
rs12877991	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs12893611	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs12897424	0.86[LWK][hapmap];0.91[TSI][hapmap]
rs1382974	0.82[ASW][hapmap]
rs1479744	0.89[MKK][hapmap];0.91[TSI][hapmap]
rs1479745	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs1479746	0.86[LWK][hapmap];0.87[MKK][hapmap];0.89[TSI][hapmap]
rs1479748	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs17254064	0.80[LWK][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap]
rs1953211	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs242412	0.85[TSI][hapmap];0.83[EUR][1000 genomes]
rs242421	0.89[TSI][hapmap]
rs3783665	0.91[TSI][hapmap]
rs3895330	0.91[TSI][hapmap]
rs3912199	0.89[TSI][hapmap]
rs3912200	0.82[TSI][hapmap]
rs4898882	0.84[TSI][hapmap]
rs4898890	0.91[TSI][hapmap]
rs4898891	0.89[MKK][hapmap];0.91[TSI][hapmap]
rs4898892	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs4901659	0.89[TSI][hapmap]
rs7142227	0.91[TSI][hapmap]
rs7143560	0.87[ASW][hapmap]
rs7152487	0.87[ASW][hapmap]
rs715756	0.89[TSI][hapmap]
rs7159441	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8011852	0.81[YRI][hapmap]
rs8014536	0.86[LWK][hapmap];0.89[MKK][hapmap];0.91[TSI][hapmap]
rs8014574	0.93[ASW][hapmap]
rs8016951	0.91[TSI][hapmap]
rs8181923	0.87[TSI][hapmap]
rs9646155	0.83[LWK][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6573086	CDKN3	cis	parietal	SCAN
rs6573086	PELI2	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56662600-56693000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr14:56665400-56691600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:56673000-56694600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:56673400-56694600	Weak transcription	Primary B cells from cord blood	blood
5	chr14:56679000-56688800	Enhancers	Fetal Thymus	thymus
6	chr14:56681000-56688800	Enhancers	Brain Germinal Matrix	brain
7	chr14:56681000-56689000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:56681200-56689600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:56681400-56687200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:56681600-56687800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr14:56682000-56689200	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:56682000-56689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr14:56682200-56687800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:56682200-56688200	Enhancers	Brain Angular Gyrus	brain
15	chr14:56682200-56699200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr14:56682600-56688200	Enhancers	Brain Substantia Nigra	brain
17	chr14:56682600-56688400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr14:56682600-56688800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:56682800-56688200	Enhancers	Colon Smooth Muscle	Colon
20	chr14:56682800-56688200	Enhancers	Fetal Brain Male	brain
21	chr14:56682800-56688400	Enhancers	Brain Anterior Caudate	brain
22	chr14:56682800-56688400	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:56683000-56689600	Enhancers	Adipose Nuclei	Adipose
24	chr14:56683400-56688200	Enhancers	Pancreas	Pancrea
25	chr14:56684000-56689200	Enhancers	Fetal Lung	lung
26	chr14:56684200-56687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:56684200-56687600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:56684200-56689000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:56684200-56689400	Weak transcription	Esophagus	oesophagus
30	chr14:56684400-56689200	Enhancers	Fetal Brain Female	brain
31	chr14:56684400-56689400	Weak transcription	Psoas Muscle	Psoas
32	chr14:56684400-56691800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr14:56684400-56692600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr14:56684600-56692400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:56685400-56688400	Weak transcription	Primary T cells from cord blood	blood
36	chr14:56685600-56687200	Enhancers	A549	lung
37	chr14:56685800-56687800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:56685800-56688400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr14:56686000-56688400	Enhancers	Fetal Muscle Leg	muscle
40	chr14:56686200-56688000	Enhancers	Fetal Kidney	kidney
41	chr14:56686200-56688200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:56686200-56688200	Enhancers	Gastric	stomach
43	chr14:56686200-56688200	Enhancers	Right Atrium	heart
44	chr14:56686200-56688400	Enhancers	Fetal Stomach	stomach
45	chr14:56686200-56688600	Genic enhancers	Dnd41	blood
46	chr14:56686200-56688800	Enhancers	Stomach Mucosa	stomach
47	chr14:56686400-56687600	Flanking Active TSS	K562	blood
48	chr14:56686600-56688800	Enhancers	Thymus	Thymus
49	chr14:56686600-56691200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr14:56686800-56687200	Enhancers	Aorta	Aorta

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