Variant report

Variant	rs11836755
Chromosome Location	chr12:39729236-39729237
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:39725322..39729241-chr12:39730380..39734731,5	K562	blood:
2	chr12:39727146..39729804-chr12:39835867..39838331,2	K562	blood:

Variant related genes	Relation type
ENSG00000252974	Chromatin interaction
ENSG00000139116	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10876868	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10876876	0.95[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs10876886	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10876972	0.94[JPT][hapmap]
rs11171674	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11171675	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs11171676	0.95[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11171720	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11171730	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11171789	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs11171891	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11171901	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11171923	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11171938	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11172108	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11172120	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11172183	0.89[JPT][hapmap]
rs11172282	0.90[JPT][hapmap]
rs11830643	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12228767	1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230604	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12424345	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1512936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1567739	1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17127019	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1828653	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2388320	1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736466	0.94[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs4320988	0.95[JPT][hapmap]
rs4492858	0.94[JPT][hapmap]
rs4500523	0.94[JPT][hapmap]
rs57756176	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs57833783	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs60792848	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7137143	0.90[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7953548	0.82[ASN][1000 genomes]
rs7964447	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7971515	0.80[ASN][1000 genomes]
rs7974928	0.80[CHB][hapmap]
rs7979329	0.80[ASN][1000 genomes]
rs7979444	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs958914	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899013	chr12:39567945-39732430	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv832375	chr12:39599362-39784722	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv832376	chr12:39633080-39808277	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv470286	chr12:39651893-39729700	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv558589	chr12:39667861-39768356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv531527	chr12:39680812-40182822	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv558590	chr12:39724344-39751273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11836755	KIF21A	cis	multi-tissue	Pritchard

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39686800-39729800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:39686800-39738800	Weak transcription	Pancreas	Pancrea
3	chr12:39695600-39742000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:39696600-39762200	Weak transcription	Fetal Brain Male	brain
5	chr12:39697800-39771800	Weak transcription	Fetal Kidney	kidney
6	chr12:39699600-39760600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:39704200-39746200	Weak transcription	HUVEC	blood vessel
8	chr12:39715600-39741800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:39718400-39756800	Weak transcription	HSMM	muscle
10	chr12:39721000-39770600	Weak transcription	Gastric	stomach
11	chr12:39721600-39734600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:39721600-39752400	Weak transcription	Right Ventricle	heart
13	chr12:39722600-39737000	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:39722800-39767200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:39723000-39734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:39723000-39736200	Weak transcription	NH-A	brain
17	chr12:39723600-39735600	Weak transcription	Osteobl	bone
18	chr12:39724400-39751800	Weak transcription	Fetal Heart	heart
19	chr12:39725000-39750000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr12:39725200-39753600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:39725800-39749800	Weak transcription	K562	blood
22	chr12:39726000-39732200	Weak transcription	Fetal Brain Female	brain
23	chr12:39726000-39753800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr12:39726400-39749800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:39726400-39766600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:39726600-39766600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:39726600-39766600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:39726600-39766800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:39726800-39731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:39726800-39731000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr12:39726800-39731600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:39726800-39734600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr12:39726800-39740200	Weak transcription	Brain Substantia Nigra	brain
34	chr12:39726800-39749800	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:39726800-39762200	Weak transcription	Placenta	Placenta
36	chr12:39726800-39766600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr12:39727000-39731800	Weak transcription	Left Ventricle	heart
38	chr12:39727000-39732200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:39727000-39732200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:39727000-39733200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:39727000-39733800	Weak transcription	NHEK	skin
42	chr12:39727000-39734200	Weak transcription	Brain Germinal Matrix	brain
43	chr12:39727000-39734200	Weak transcription	HMEC	breast
44	chr12:39727000-39734600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:39727000-39734800	Weak transcription	GM12878-XiMat	blood
46	chr12:39727000-39734800	Weak transcription	HepG2	liver
47	chr12:39727000-39749000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:39727000-39749400	Weak transcription	Adipose Nuclei	Adipose
49	chr12:39727000-39749800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:39727000-39750000	Weak transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links