Variant report

Variant	rs12734068
Chromosome Location	chr1:10376803-10376804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10492972	0.81[EUR][1000 genomes]
rs1049887	0.88[EUR][1000 genomes]
rs11121531	0.88[ASN][1000 genomes]
rs11121532	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11121533	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11121544	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11121545	0.84[EUR][1000 genomes]
rs11121552	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11576654	0.89[EUR][1000 genomes]
rs11576866	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11578694	0.87[EUR][1000 genomes]
rs11578788	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11585760	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12119477	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12127553	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12129035	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12130220	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12130563	0.83[EUR][1000 genomes]
rs12131441	0.83[EUR][1000 genomes]
rs12132134	0.81[AMR][1000 genomes]
rs12132635	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12136376	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137456	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12137880	0.85[EUR][1000 genomes]
rs12141416	0.81[EUR][1000 genomes]
rs12402052	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12403443	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12406776	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12407992	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12408019	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12409933	0.82[AMR][1000 genomes]
rs12722830	0.84[EUR][1000 genomes]
rs12734551	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12753426	0.81[AMR][1000 genomes]
rs12755094	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12755363	0.82[EUR][1000 genomes]
rs1339458	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1536263	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1555849	0.84[EUR][1000 genomes]
rs17034821	0.84[EUR][1000 genomes]
rs17400510	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17401924	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401966	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17410217	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17410793	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17411502	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1889309	0.83[EUR][1000 genomes]
rs2004034	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2185252	0.84[EUR][1000 genomes]
rs2275424	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2276100	0.84[EUR][1000 genomes]
rs34215045	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34225619	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35388505	0.81[EUR][1000 genomes]
rs35766535	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35837142	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3748577	0.81[EUR][1000 genomes]
rs3748578	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3748579	0.84[EUR][1000 genomes]
rs3753037	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4259656	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4845933	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4845934	0.83[EUR][1000 genomes]
rs4846208	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4846210	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4846212	0.81[AMR][1000 genomes]
rs4846213	0.84[EUR][1000 genomes]
rs58053556	0.88[EUR][1000 genomes]
rs58549151	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58697740	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60743860	0.89[EUR][1000 genomes]
rs61778376	0.84[EUR][1000 genomes]
rs61778399	0.83[EUR][1000 genomes]
rs61778401	0.83[EUR][1000 genomes]
rs61778403	0.81[EUR][1000 genomes]
rs6674843	0.88[EUR][1000 genomes]
rs6700866	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs746881	0.81[EUR][1000 genomes]
rs7520651	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7520935	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7530167	0.89[EUR][1000 genomes]
rs912961	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv437200	chr1:10366487-10387704	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv1003027	chr1:10367332-10377971	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
9	esv3508180	chr1:10368365-10379763	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3508178	chr1:10368715-10379713	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv436146	chr1:10368866-10379009	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv8102	chr1:10368970-10378846	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3319694	chr1:10369334-10378820	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3508176	chr1:10369373-10378812	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3319693	chr1:10369381-10378797	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3508177	chr1:10369398-10378785	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	esv3319691	chr1:10369399-10378782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3508179	chr1:10369414-10378780	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3319692	chr1:10369415-10378808	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv12065	chr1:10369418-10378885	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3319695	chr1:10369470-10378667	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	esv3508181	chr1:10369470-10378667	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	esv3692757	chr1:10369546-10377221	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	esv2421759	chr1:10369546-10377983	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv545384	chr1:10370312-10377221	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv437201	chr1:10370312-10387704	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
27	nsv1011917	chr1:10370390-10382314	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv2764182	chr1:10370402-10377983	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv441678	chr1:10370541-10377983	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv513981	chr1:10370854-10377962	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv437970	chr1:10375179-10378416	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12734068	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
5	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
6	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
8	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:10363000-10379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:10363800-10380000	Weak transcription	A549	lung
11	chr1:10364200-10381800	Weak transcription	Gastric	stomach
12	chr1:10364200-10394600	Weak transcription	Dnd41	blood
13	chr1:10364400-10380000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:10364600-10379600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:10364600-10381800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:10364600-10381800	Weak transcription	Esophagus	oesophagus
18	chr1:10364600-10381800	Weak transcription	Pancreas	Pancrea
19	chr1:10364600-10382200	Weak transcription	Colonic Mucosa	Colon
20	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:10364800-10381800	Weak transcription	Fetal Intestine Small	intestine
22	chr1:10364800-10381800	Weak transcription	Fetal Stomach	stomach
23	chr1:10364800-10381800	Weak transcription	Spleen	Spleen
24	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:10364800-10386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:10364800-10386000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr1:10365000-10379600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:10365000-10381600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr1:10365000-10381800	Weak transcription	Aorta	Aorta
33	chr1:10365000-10381800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:10365000-10383800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr1:10365000-10385800	Weak transcription	NHEK	skin
36	chr1:10365200-10398400	Weak transcription	Fetal Heart	heart
37	chr1:10365600-10382400	Weak transcription	NHLF	lung
38	chr1:10365600-10383800	Weak transcription	HMEC	breast
39	chr1:10365600-10385600	Weak transcription	Hela-S3	cervix
40	chr1:10365800-10379800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:10365800-10379800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr1:10365800-10379800	Weak transcription	Fetal Kidney	kidney
43	chr1:10365800-10394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:10366000-10378000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr1:10366000-10378400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:10366000-10381800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:10366400-10378000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:10366800-10381800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:10366800-10381800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:10366800-10381800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links