Variant report

Variant	rs9946698
Chromosome Location	chr18:12324097-12324098
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12321262..12324555-chr18:12324806..12328664,5	K562	blood:
2	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10459999	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10460000	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10460001	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10853225	0.80[EUR][1000 genomes]
rs11080564	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11080569	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11080571	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11080572	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1129115	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11553521	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11664216	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11665134	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11875938	0.84[EUR][1000 genomes]
rs12455273	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12455770	0.81[EUR][1000 genomes]
rs12456857	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12604732	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12954686	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12968089	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12968566	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28372882	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34829762	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35338639	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4796961	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4796964	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4797677	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62098961	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7231182	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7231409	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7235237	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7235296	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7504908	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7504974	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7505834	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8086821	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8086993	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8087840	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8092506	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8097342	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9303769	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9951945	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers 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 target site	64 gene(s)	inside rSNPs	diseases
9	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
10	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
11	esv3428049	chr18:12324002-12326800	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9946698	TUBB6	cis	Whole Blood	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12310000-12324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
3	chr18:12310200-12324800	Weak transcription	HepG2	liver
4	chr18:12311000-12324800	Weak transcription	Spleen	Spleen
5	chr18:12312600-12325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:12312800-12324800	Weak transcription	Colonic Mucosa	Colon
8	chr18:12312800-12324800	Weak transcription	Fetal Brain Female	brain
9	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:12314200-12327800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
12	chr18:12314600-12324400	Weak transcription	Brain Germinal Matrix	brain
13	chr18:12315600-12324800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:12316200-12324600	Weak transcription	Gastric	stomach
15	chr18:12316200-12325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:12316400-12333600	Weak transcription	Fetal Brain Male	brain
17	chr18:12316600-12324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:12316600-12324800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:12316600-12327000	Weak transcription	Stomach Mucosa	stomach
20	chr18:12316800-12327600	Strong transcription	HUVEC	blood vessel
21	chr18:12317600-12324800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:12318000-12325000	Weak transcription	Hela-S3	cervix
23	chr18:12318000-12331200	Strong transcription	HMEC	breast
24	chr18:12318400-12324800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:12318400-12334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:12318600-12324400	Weak transcription	Thymus	Thymus
27	chr18:12318600-12324800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:12318600-12324800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr18:12318600-12324800	Weak transcription	Aorta	Aorta
30	chr18:12318600-12324800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:12318600-12325200	Weak transcription	Psoas Muscle	Psoas
32	chr18:12318600-12331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:12318800-12324800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:12318800-12324800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr18:12318800-12324800	Strong transcription	Fetal Stomach	stomach
36	chr18:12318800-12325000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:12318800-12327200	Weak transcription	Right Atrium	heart
38	chr18:12318800-12327600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr18:12319000-12333800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr18:12319000-12336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr18:12319600-12325400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:12320000-12324800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:12320200-12324400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:12320200-12331200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:12320400-12328000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr18:12320600-12325000	Strong transcription	Fetal Intestine Large	intestine
47	chr18:12320600-12331400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr18:12320800-12324600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
50	chr18:12321000-12324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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