Variant report

Variant	rs7230326
Chromosome Location	chr18:29485639-29485640
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29483369..29487458-chr18:29519948..29522209,3	K562	blood:
2	chr18:29477012..29478929-chr18:29485217..29488181,2	K562	blood:

Extended variants
information (count: 61 )
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];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1074636	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10853415	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10853416	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11081718	0.95[JPT][hapmap]
rs11081720	0.91[JPT][hapmap]
rs11081729	0.91[JPT][hapmap]
rs11081730	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11660557	0.91[JPT][hapmap]
rs11662341	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11662697	0.91[JPT][hapmap]
rs11877256	0.95[JPT][hapmap]
rs12604640	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12604691	0.91[JPT][hapmap]
rs12606882	0.95[JPT][hapmap]
rs12606962	0.95[JPT][hapmap]
rs12607426	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12607786	0.91[JPT][hapmap]
rs12957331	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12969126	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1680643	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17741796	0.91[JPT][hapmap]
rs17742014	0.91[JPT][hapmap]
rs17742105	0.91[JPT][hapmap]
rs17804129	0.91[JPT][hapmap]
rs1786764	0.87[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	0.91[JPT][hapmap]
rs35203717	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3737374	0.95[JPT][hapmap]
rs3826612	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3865397	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513172	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4545895	0.91[JPT][hapmap]
rs5011500	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs521491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs549818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs563247	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs614342	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs639595	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6506944	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6506945	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6506946	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs675570	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67874605	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7228817	0.91[JPT][hapmap]
rs7229979	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7231114	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7234341	0.95[JPT][hapmap]
rs7234798	0.95[JPT][hapmap]
rs7239098	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7239951	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8088396	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9958368	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9966530	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1067252	chr18:29475073-29583744	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr18:29406200-29518600	Weak transcription	Fetal Brain Male	brain
2	chr18:29417600-29515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:29431800-29499000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr18:29431800-29512600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr18:29432600-29507600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:29432600-29521400	Weak transcription	Stomach Mucosa	stomach
7	chr18:29446000-29489000	Strong transcription	Fetal Thymus	thymus
8	chr18:29449200-29489000	Strong transcription	Adipose Nuclei	Adipose
9	chr18:29457000-29505800	Weak transcription	Brain Angular Gyrus	brain
10	chr18:29457200-29493200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr18:29460400-29501200	Strong transcription	Liver	Liver
12	chr18:29461400-29494200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr18:29461600-29491200	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr18:29461600-29518600	Weak transcription	Psoas Muscle	Psoas
15	chr18:29462000-29520000	Weak transcription	Fetal Heart	heart
16	chr18:29462600-29485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr18:29462600-29489000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:29462800-29486000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:29463200-29490200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr18:29463400-29509200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr18:29465000-29489200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:29466200-29486000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr18:29466200-29489000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr18:29466400-29490800	Strong transcription	Placenta	Placenta
25	chr18:29466600-29485800	Strong transcription	Dnd41	blood
26	chr18:29466800-29489000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr18:29466800-29489000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr18:29467400-29486600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr18:29468200-29491000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr18:29468800-29492000	Weak transcription	Ovary	ovary
31	chr18:29469000-29489200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:29469000-29511400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr18:29469600-29507000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr18:29472800-29512000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr18:29473000-29489000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:29473200-29490200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr18:29473400-29487800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:29473800-29489600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr18:29473800-29490000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:29473800-29494800	Strong transcription	Primary B cells from cord blood	blood
41	chr18:29473800-29503400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr18:29474200-29510800	Weak transcription	NH-A	brain
43	chr18:29476000-29491200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr18:29476400-29485800	Strong transcription	Fetal Intestine Large	intestine
45	chr18:29476600-29486200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:29476800-29489800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr18:29478600-29486400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr18:29478600-29522000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr18:29479200-29485800	Strong transcription	Primary T cells from cord blood	blood
50	chr18:29479200-29489000	Strong transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links