Variant report

Variant	rs614342
Chromosome Location	chr18:29471317-29471318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29468408..29471507-chr18:29523062..29524905,3	K562	blood:

Variant related genes	Relation type
ENSG00000153339	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10468902	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1074636	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10853415	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10853416	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11081718	1.00[JPT][hapmap]
rs11081720	0.95[JPT][hapmap]
rs11081729	0.95[JPT][hapmap]
rs11081730	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11660557	0.95[JPT][hapmap]
rs11662341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.84[TSI][hapmap];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11662697	0.95[JPT][hapmap]
rs11877256	1.00[JPT][hapmap]
rs12604640	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12604691	0.95[JPT][hapmap]
rs12606882	1.00[JPT][hapmap]
rs12606962	1.00[JPT][hapmap]
rs12607426	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12607786	0.95[JPT][hapmap]
rs12957331	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12969126	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1680643	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17741796	0.95[JPT][hapmap]
rs17742014	0.95[JPT][hapmap]
rs17742105	0.95[JPT][hapmap]
rs17804129	0.95[JPT][hapmap]
rs1786764	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1815822	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276144	0.95[JPT][hapmap]
rs35203717	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737374	1.00[JPT][hapmap]
rs3826612	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3865397	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4513172	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4545895	0.95[JPT][hapmap]
rs5011500	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs521491	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs549818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs563247	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs639595	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6506944	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6506945	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6506946	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675570	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67874605	0.83[EUR][1000 genomes]
rs7228817	0.95[JPT][hapmap]
rs7229979	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7230326	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7231114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7234341	1.00[JPT][hapmap]
rs7234798	1.00[JPT][hapmap]
rs7239098	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7239951	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8084869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8088396	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8094542	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs930018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9958368	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9966530	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

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	nsv431975	chr18:29311034-29527902	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1057229	chr18:29335175-29514265	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29405600-29481800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
3	chr18:29408600-29471800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr18:29432400-29480000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr18:29432600-29481600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
11	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
12	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
13	chr18:29450200-29471800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr18:29452000-29472000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr18:29456000-29479200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr18:29456000-29480000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:29457000-29480400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
19	chr18:29457200-29479600	Weak transcription	Colonic Mucosa	Colon
20	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr18:29457400-29479800	Weak transcription	Pancreas	Pancrea
22	chr18:29457400-29484800	Weak transcription	NHEK	skin
23	chr18:29457600-29479800	Weak transcription	Right Ventricle	heart
24	chr18:29458200-29479600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr18:29458200-29479600	Weak transcription	Aorta	Aorta
26	chr18:29458200-29479600	Weak transcription	Esophagus	oesophagus
27	chr18:29458200-29482600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:29458600-29485200	Weak transcription	Brain Substantia Nigra	brain
29	chr18:29458800-29471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr18:29459000-29481400	Weak transcription	NHLF	lung
31	chr18:29459400-29474200	Weak transcription	Hela-S3	cervix
32	chr18:29460400-29501200	Strong transcription	Liver	Liver
33	chr18:29461400-29494200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr18:29461600-29471800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:29461600-29471800	Strong transcription	Fetal Intestine Large	intestine
36	chr18:29461600-29491200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
38	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
39	chr18:29462400-29472000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr18:29462400-29476400	Strong transcription	Primary T cells from cord blood	blood
41	chr18:29462400-29476600	Weak transcription	HUVEC	blood vessel
42	chr18:29462600-29472000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr18:29462600-29479800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr18:29462600-29485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:29462600-29489000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr18:29462800-29485200	Weak transcription	Brain Germinal Matrix	brain
47	chr18:29462800-29486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:29463200-29490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr18:29463400-29509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr18:29463600-29481600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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