Variant report

Variant	rs948737
Chromosome Location	chr11:102028829-102028830
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr11:102028729-102029705	HEK293	kidney:	n/a	chr11:102029344-102029353
2	TFAP2A	chr11:102028628-102029404	Hela-S3	cervix:	n/a	chr11:102029090-102029105
3	BRCA1	chr11:102027974-102029343	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:102026679..102028965-chr11:102030794..102032786,2	K562	blood:

Variant related genes	Relation type
YAP1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10750632	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10750633	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10750634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791564	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791565	0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10895258	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895259	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10895261	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10895263	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10895264	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10895265	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10895266	0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225134	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11225135	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11225146	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11225147	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11225149	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11225151	0.81[CEU][hapmap];0.87[CHB][hapmap];0.83[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11603468	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11605954	0.87[GIH][hapmap]
rs11606471	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607135	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12223094	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12790160	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12796162	0.83[ASN][1000 genomes]
rs1365330	0.82[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs1426392	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1426394	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1834595	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1834596	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1893497	0.81[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1893498	0.87[GIH][hapmap]
rs1895917	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1942680	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1942688	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1942689	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1942690	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1942691	0.87[CEU][hapmap];0.81[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2003357	0.87[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2019070	0.82[CHB][hapmap];0.87[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2187525	0.87[GIH][hapmap]
rs3890538	0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4329661	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4442513	0.87[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4754833	0.91[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4754834	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60304309	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61538959	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6590949	0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[EUR][1000 genomes]
rs7108698	0.82[CHB][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108820	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7117239	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120067	0.94[GIH][hapmap]
rs7120363	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7123862	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7124280	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126535	0.80[ASN][1000 genomes]
rs7126944	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7127597	0.86[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7130772	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7483889	0.87[CHB][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7924449	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7924737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7927957	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7928547	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938172	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs9787890	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362945	chr11:101736547-102114246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898333	chr11:101832670-102079986	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	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
4	nsv556141	chr11:101988061-102207851	Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv832251	chr11:102012295-102181744	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1043388	chr11:102017719-102172857	Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs948737	CASP1	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101998600-102033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:101998600-102034200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr11:102000800-102034000	Weak transcription	Lung	lung
4	chr11:102005800-102033000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:102010200-102032400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:102010400-102039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:102012600-102034200	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:102015800-102033200	Weak transcription	Spleen	Spleen
9	chr11:102016000-102033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:102017200-102033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:102020400-102049000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:102022800-102029800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:102023000-102030600	Enhancers	Fetal Lung	lung
14	chr11:102023200-102029800	Weak transcription	Gastric	stomach
15	chr11:102023400-102034000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:102023800-102029200	Weak transcription	Left Ventricle	heart
17	chr11:102023800-102031000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:102023800-102032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:102023800-102033000	Weak transcription	Right Atrium	heart
20	chr11:102023800-102033000	Weak transcription	Right Ventricle	heart
21	chr11:102023800-102034000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:102024000-102029800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:102024000-102034000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:102025000-102030200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:102025400-102029400	Enhancers	Osteobl	bone
26	chr11:102025600-102029800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:102025600-102039000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:102025800-102033000	Weak transcription	Fetal Stomach	stomach
29	chr11:102026000-102029400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr11:102026000-102029400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:102026000-102029400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:102026200-102030000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:102026200-102030000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:102026200-102030000	Enhancers	HMEC	breast
35	chr11:102026400-102029200	Enhancers	A549	lung
36	chr11:102026400-102029600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:102026400-102030000	Enhancers	Ovary	ovary
38	chr11:102026400-102034000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:102026400-102059400	Weak transcription	Fetal Brain Male	brain
40	chr11:102026600-102029200	Weak transcription	Placenta	Placenta
41	chr11:102026600-102030000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:102026600-102045400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:102026800-102029600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:102026800-102029600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr11:102026800-102029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:102027000-102030000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:102027200-102029000	Enhancers	Hela-S3	cervix
48	chr11:102027200-102030000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:102027400-102029400	Enhancers	Fetal Intestine Small	intestine
50	chr11:102027600-102033000	Weak transcription	Esophagus	oesophagus

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