Variant report

Variant	rs1943781
Chromosome Location	chr11:102235141-102235142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102231414..102233477-chr11:102233944..102236377,2	K562	blood:
2	chr11:102234586..102236532-chr11:102307428..102308974,2	K562	blood:

Variant related genes	Relation type
ENSG00000110330	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10219215	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1058606	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10895292	1.00[ASN][1000 genomes]
rs10895296	1.00[CHB][hapmap]
rs11225222	1.00[ASN][1000 genomes]
rs11225229	1.00[ASN][1000 genomes]
rs11225235	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11225236	1.00[ASN][1000 genomes]
rs11225237	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11225251	1.00[ASN][1000 genomes]
rs11501342	1.00[ASN][1000 genomes]
rs11501343	1.00[ASN][1000 genomes]
rs11501344	1.00[ASN][1000 genomes]
rs11547915	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11547916	1.00[ASN][1000 genomes]
rs11601671	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11603677	1.00[ASN][1000 genomes]
rs11604008	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11604189	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11604271	1.00[ASN][1000 genomes]
rs11605010	1.00[ASN][1000 genomes]
rs11605066	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11605087	1.00[ASN][1000 genomes]
rs11605133	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs11605573	1.00[ASN][1000 genomes]
rs11605915	1.00[ASN][1000 genomes]
rs11607214	1.00[ASN][1000 genomes]
rs11607657	1.00[ASN][1000 genomes]
rs11607908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12269847	1.00[ASN][1000 genomes]
rs12270109	1.00[ASN][1000 genomes]
rs12271457	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12273698	1.00[ASN][1000 genomes]
rs12274405	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12275185	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12275349	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12277594	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12277853	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12279056	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12282486	1.00[ASN][1000 genomes]
rs12283885	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12290033	1.00[ASN][1000 genomes]
rs12291114	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12293094	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12293834	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1275850	1.00[ASN][1000 genomes]
rs12792649	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1290044	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317775	1.00[CHD][hapmap]
rs1318199	1.00[ASN][1000 genomes]
rs13377311	1.00[ASN][1000 genomes]
rs1574410	1.00[ASN][1000 genomes]
rs17349689	1.00[ASN][1000 genomes]
rs17350205	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17350590	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2436036	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs2510491	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34104132	1.00[ASN][1000 genomes]
rs34296997	1.00[ASN][1000 genomes]
rs34740624	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[ASN][1000 genomes]
rs35457182	1.00[ASN][1000 genomes]
rs35569122	1.00[ASN][1000 genomes]
rs35623064	1.00[ASN][1000 genomes]
rs35972941	1.00[ASN][1000 genomes]
rs484068	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs485020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs525305	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs531350	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs57346058	1.00[ASN][1000 genomes]
rs57562739	1.00[ASN][1000 genomes]
rs577850	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs58250524	1.00[ASN][1000 genomes]
rs589533	0.83[CEU][hapmap]
rs61123589	1.00[ASN][1000 genomes]
rs61334418	1.00[ASN][1000 genomes]
rs61895370	1.00[ASN][1000 genomes]
rs61895375	1.00[ASN][1000 genomes]
rs61895376	1.00[ASN][1000 genomes]
rs637708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs660908	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs670334	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7104841	1.00[ASN][1000 genomes]
rs7113906	1.00[ASN][1000 genomes]
rs7114048	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers 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	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102219200-102238400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:102219200-102239200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:102220000-102283000	Weak transcription	Hela-S3	cervix
4	chr11:102220800-102240000	Strong transcription	Liver	Liver
5	chr11:102221200-102239800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:102223800-102239800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:102225600-102255400	Weak transcription	Fetal Heart	heart
8	chr11:102227800-102239800	Strong transcription	Placenta	Placenta
9	chr11:102228200-102235200	Weak transcription	Fetal Brain Male	brain
10	chr11:102228800-102239800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:102228800-102239800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:102228800-102239800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr11:102228800-102240000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:102229000-102239800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr11:102229400-102236400	Strong transcription	HMEC	breast
16	chr11:102229400-102239600	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr11:102229400-102239800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr11:102229400-102239800	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr11:102229400-102239800	Strong transcription	Osteobl	bone
20	chr11:102229600-102237800	Strong transcription	HUVEC	blood vessel
21	chr11:102229600-102239800	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:102229600-102239800	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:102229800-102239800	Strong transcription	Adipose Nuclei	Adipose
24	chr11:102230200-102237200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:102230200-102239800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:102230400-102236000	Weak transcription	Small Intestine	intestine
27	chr11:102230400-102236800	Strong transcription	Fetal Lung	lung
28	chr11:102230400-102237000	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr11:102230600-102237800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:102230600-102240000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:102230800-102237000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr11:102230800-102240000	Strong transcription	Fetal Intestine Large	intestine
33	chr11:102230800-102245400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:102231200-102239000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:102231200-102240000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:102231400-102236600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:102231600-102239400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:102232000-102239800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:102232000-102239800	Strong transcription	HepG2	liver
40	chr11:102232400-102239000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr11:102232400-102240000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:102232400-102245400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:102232400-102245400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr11:102232400-102259600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:102232600-102235200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:102232600-102235200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr11:102232600-102236200	Weak transcription	Aorta	Aorta
48	chr11:102232600-102236200	Weak transcription	Fetal Stomach	stomach
49	chr11:102232600-102236200	Weak transcription	Gastric	stomach
50	chr11:102232600-102236200	Weak transcription	Lung	lung

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