Variant report

Variant	rs524793
Chromosome Location	chr18:39568444-39568445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1787173	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1788988	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1944967	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4447506	0.92[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs477256	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs484350	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs500086	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs503472	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs511605	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs514227	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs515626	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs517864	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs519465	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs523425	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs525399	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs52911	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs530113	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs531258	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs533028	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs535626	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs555734	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs559231	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs573835	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs577955	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs582268	0.82[EUR][1000 genomes]
rs587686	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs590912	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593248	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs600658	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs609301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620052	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs620344	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs622612	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs622939	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs625896	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs627636	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs629481	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs638763	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639656	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647512	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs649610	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs664338	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693020	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:39536400-39578200	Weak transcription	A549	lung
4	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
7	chr18:39547600-39580600	Weak transcription	Spleen	Spleen
8	chr18:39547800-39569000	Weak transcription	Fetal Brain Female	brain
9	chr18:39548000-39576000	Weak transcription	Fetal Brain Male	brain
10	chr18:39548000-39580200	Weak transcription	Pancreas	Pancrea
11	chr18:39548200-39569200	Weak transcription	Ovary	ovary
12	chr18:39548200-39576600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr18:39548200-39579400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr18:39548200-39580200	Weak transcription	Lung	lung
15	chr18:39548200-39580400	Weak transcription	NHLF	lung
16	chr18:39548400-39573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr18:39548400-39576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:39548600-39573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr18:39549000-39576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr18:39549200-39582800	Weak transcription	Psoas Muscle	Psoas
22	chr18:39550400-39577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr18:39551000-39573400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:39551000-39576200	Weak transcription	Left Ventricle	heart
25	chr18:39551400-39569000	Weak transcription	Brain Germinal Matrix	brain
26	chr18:39551400-39573400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:39551400-39576600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr18:39552600-39570000	Weak transcription	NHDF-Ad	bronchial
29	chr18:39552800-39580200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr18:39553000-39569000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:39554200-39574000	Weak transcription	Colon Smooth Muscle	Colon
32	chr18:39554200-39576200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr18:39555000-39573400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr18:39555200-39573800	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr18:39555200-39580200	Weak transcription	Aorta	Aorta
36	chr18:39555400-39573200	Weak transcription	Brain Anterior Caudate	brain
37	chr18:39555600-39568800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr18:39555600-39572000	Weak transcription	HSMMtube	muscle
39	chr18:39555600-39573800	Weak transcription	Hela-S3	cervix
40	chr18:39556200-39569000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr18:39557200-39572000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr18:39557200-39573400	Weak transcription	Fetal Kidney	kidney
43	chr18:39557400-39575400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr18:39557800-39573200	Weak transcription	Fetal Thymus	thymus
45	chr18:39558200-39572000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr18:39558200-39580000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr18:39558200-39580000	Weak transcription	Fetal Intestine Small	intestine
48	chr18:39558200-39580000	Weak transcription	Fetal Stomach	stomach
49	chr18:39558200-39594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr18:39558200-39603800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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