Variant report

Variant	rs11101368
Chromosome Location	chr10:49730920-49730921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49730645..49732196-chr10:49747881..49750168,2	K562	blood:
2	chr10:49729429..49732074-chr10:49751131..49754040,2	K562	blood:
3	chr10:49514209..49516197-chr10:49729789..49731994,3	K562	blood:
4	chr10:49684170..49687660-chr10:49728231..49732129,4	K562	blood:
5	chr10:49514209..49515853-chr10:49729935..49731994,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction
ENSG00000107643	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10491040	0.81[ASN][1000 genomes]
rs10735226	1.00[JPT][hapmap]
rs10776614	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10776615	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10776616	0.82[CHB][hapmap]
rs10857592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857596	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10857598	0.81[ASN][1000 genomes]
rs11101355	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11101357	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs11101362	1.00[ASN][1000 genomes]
rs11101364	1.00[ASN][1000 genomes]
rs11101377	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs11101381	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11101382	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11101384	0.82[CHB][hapmap]
rs11591281	1.00[ASN][1000 genomes]
rs11812546	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs12358311	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12358315	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12412164	0.81[ASN][1000 genomes]
rs12777174	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs12777190	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1345104	0.82[CHB][hapmap]
rs1345109	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1345110	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1345111	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1348633	1.00[JPT][hapmap]
rs1445148	0.86[ASN][1000 genomes]
rs1445154	0.97[ASN][1000 genomes]
rs17697885	1.00[JPT][hapmap]
rs17770615	1.00[JPT][hapmap]
rs1814469	1.00[JPT][hapmap]
rs1838568	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1838569	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1838570	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1838573	0.85[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1838574	0.90[ASN][1000 genomes]
rs1838579	0.82[CHB][hapmap]
rs1900021	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1965170	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2077152	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2120910	0.82[CHB][hapmap]
rs34983450	1.00[ASN][1000 genomes]
rs4080665	1.00[JPT][hapmap]
rs4084916	0.81[ASN][1000 genomes]
rs4101278	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41510345	0.85[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4450130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838418	1.00[JPT][hapmap]
rs4838605	0.81[CHD][hapmap];1.00[JPT][hapmap]
rs4838606	1.00[JPT][hapmap]
rs4838617	0.81[ASN][1000 genomes]
rs4838623	0.82[CHB][hapmap]
rs56058334	0.86[ASN][1000 genomes]
rs56080723	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56248718	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57601353	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60214846	0.80[ASN][1000 genomes]
rs66695288	1.00[ASN][1000 genomes]
rs67372461	1.00[ASN][1000 genomes]
rs7069220	1.00[JPT][hapmap]
rs7071095	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7071480	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7074631	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7085183	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7085335	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7087729	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7088010	0.86[ASN][1000 genomes]
rs7089439	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7093726	1.00[JPT][hapmap]
rs7094216	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7096053	1.00[JPT][hapmap]
rs7098068	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs72785120	0.93[ASN][1000 genomes]
rs7350424	0.86[ASN][1000 genomes]
rs7350439	0.86[ASN][1000 genomes]
rs747533	1.00[JPT][hapmap]
rs7894707	0.82[CHB][hapmap]
rs7894971	0.82[CHB][hapmap]
rs7896644	0.82[CHB][hapmap]
rs7904456	0.86[ASN][1000 genomes]
rs7905247	0.82[CHB][hapmap]
rs7911247	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7915233	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7916108	0.82[CHB][hapmap]
rs935271	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11101368	MAPK8	cis	cerebellum	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49721400-49732000	Weak transcription	HMEC	breast
3	chr10:49724000-49731000	Weak transcription	HUVEC	blood vessel
4	chr10:49727000-49731000	Weak transcription	Pancreas	Pancrea
5	chr10:49728200-49731000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:49728400-49731000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:49729000-49731000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:49729000-49731000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr10:49729600-49731000	Enhancers	NHDF-Ad	bronchial
10	chr10:49729600-49731000	Enhancers	NHLF	lung
11	chr10:49729600-49731200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr10:49729600-49731200	Enhancers	HSMM	muscle
13	chr10:49729600-49731200	Enhancers	HSMMtube	muscle
14	chr10:49729800-49731000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:49729800-49731000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:49729800-49731000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr10:49729800-49731200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:49729800-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr10:49730000-49731000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:49730000-49731200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:49730000-49731200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr10:49730000-49731200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr10:49730000-49731800	Enhancers	Brain Angular Gyrus	brain
24	chr10:49730000-49731800	Enhancers	Brain Substantia Nigra	brain
25	chr10:49730200-49731200	Enhancers	Brain Hippocampus Middle	brain
26	chr10:49730200-49731200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr10:49730200-49731200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr10:49730200-49731200	Enhancers	Ovary	ovary
29	chr10:49730200-49731600	Flanking Active TSS	K562	blood
30	chr10:49730400-49731000	Enhancers	NH-A	brain
31	chr10:49730400-49731200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
32	chr10:49730400-49731200	Enhancers	Right Ventricle	heart
33	chr10:49730400-49731600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr10:49730400-49731800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:49730600-49731000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr10:49730600-49731000	Enhancers	Rectal Smooth Muscle	rectum
37	chr10:49730600-49731000	Genic enhancers	Osteobl	bone
38	chr10:49730600-49731200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:49730600-49731200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr10:49730600-49731800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:49730600-49732000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr10:49730600-49732200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr10:49730800-49731000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr10:49730800-49731000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr10:49730800-49731000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr10:49730800-49731000	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr10:49730800-49731000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr10:49730800-49731000	Enhancers	Colon Smooth Muscle	Colon
49	chr10:49730800-49731000	Bivalent Enhancer	Fetal Intestine Small	intestine
50	chr10:49730800-49731000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links