Variant report

Variant	rs11042196
Chromosome Location	chr11:9172847-9172848
allele	G/T
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	GATA2	chr11:9172054-9173444	HUVEC	blood vessel:	n/a	chr11:9172360-9172367
2	POLR2A	chr11:9171989-9172860	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9169410..9173680-chr11:9196051..9200398,3	MCF-7	breast:
2	chr11:9166569..9169771-chr11:9171907..9174978,4	K562	blood:

Variant related genes	Relation type
DENND5A	TF binding region
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10840170	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840171	0.83[ASN][1000 genomes]
rs10840186	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10840188	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs10840189	1.00[JPT][hapmap]
rs11042179	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042190	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042191	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042192	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042197	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042201	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042215	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042217	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11042231	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs11042232	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs11042253	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11042268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1136966	1.00[CHB][hapmap]
rs11607384	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11827186	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12360767	0.89[CEU][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs12363839	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs12366113	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17257379	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs1909215	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1984775	1.00[CHB][hapmap]
rs2133215	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2173406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4061640	1.00[CHB][hapmap]
rs4910443	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55948618	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57514354	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61217844	0.81[AFR][1000 genomes]
rs6486138	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs67988043	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7103472	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7113467	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7114013	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7129049	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs72857949	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72857989	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72857991	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72857993	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72857997	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7394454	0.83[AMR][1000 genomes]
rs7396115	1.00[CHB][hapmap]
rs7396130	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7396541	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7396840	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7929621	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs7936201	1.00[CHB][hapmap]
rs7936622	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap]
rs7941341	1.00[CHB][hapmap]
rs7945759	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949022	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7949349	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9142600-9175000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:9151800-9175800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr11:9152800-9175800	Strong transcription	Fetal Muscle Leg	muscle
4	chr11:9153000-9179800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:9157000-9180000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr11:9158000-9183200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:9159000-9175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:9159400-9174400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:9159600-9179400	Strong transcription	Primary T cells from cord blood	blood
11	chr11:9159800-9183400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:9160000-9174000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:9160000-9177200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:9160200-9174600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr11:9160200-9174800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:9160200-9175600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr11:9160400-9174200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:9160400-9175600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:9160600-9174000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr11:9160600-9174200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:9160600-9174200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:9160600-9175400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:9160800-9174000	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr11:9161000-9174000	Strong transcription	Primary B cells from cord blood	blood
25	chr11:9161200-9174000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:9161200-9174200	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:9161200-9175400	Strong transcription	Fetal Lung	lung
28	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
29	chr11:9161400-9173000	Weak transcription	Stomach Mucosa	stomach
30	chr11:9161400-9174200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:9161400-9175600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:9161400-9179200	Strong transcription	Fetal Stomach	stomach
33	chr11:9161400-9181000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:9161600-9174000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:9161800-9174000	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:9162000-9175800	Strong transcription	Adipose Nuclei	Adipose
37	chr11:9162000-9191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:9162200-9174000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:9162200-9174000	Strong transcription	Fetal Kidney	kidney
41	chr11:9162400-9174200	Strong transcription	A549	lung
42	chr11:9162400-9175400	Strong transcription	Liver	Liver
43	chr11:9162400-9175400	Strong transcription	HepG2	liver
44	chr11:9162800-9173400	Strong transcription	Spleen	Spleen
45	chr11:9162800-9174000	Strong transcription	Fetal Intestine Large	intestine
46	chr11:9162800-9174000	Strong transcription	Lung	lung
47	chr11:9162800-9174000	Strong transcription	Ovary	ovary
48	chr11:9162800-9174200	Strong transcription	Aorta	Aorta
49	chr11:9163000-9174400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr11:9165400-9173400	Strong transcription	GM12878-XiMat	blood

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