Variant report

Variant	rs4930198
Chromosome Location	chr11:67144747-67144748
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	BCL3	chr11:67144437-67145221	A549	lung:	n/a	n/a
2	REST	chr11:67144736-67145382	A549	lung:	n/a	chr11:67144767-67144787 chr11:67144767-67144787 chr11:67144794-67144812 chr11:67145176-67145189
3	NFIC	chr11:67144481-67145416	ECC-1	luminal epithelium:	n/a	chr11:67144752-67144768
4	TCF12	chr11:67144434-67145499	A549	lung:	n/a	n/a
5	SP1	chr11:67144600-67145688	A549	lung:	n/a	chr11:67145420-67145432 chr11:67145407-67145419 chr11:67145407-67145419 chr11:67145408-67145418 chr11:67145408-67145417 chr11:67145420-67145432
6	SP1	chr11:67144696-67145698	A549	lung:	n/a	chr11:67145420-67145432 chr11:67145407-67145419 chr11:67145407-67145419 chr11:67145408-67145418 chr11:67145408-67145417 chr11:67145420-67145432
7	FOSL2	chr11:67144361-67145402	A549	lung:	n/a	chr11:67145103-67145111 chr11:67145101-67145113
8	MAX	chr11:67144250-67145641	A549	lung:	n/a	n/a
9	GTF2F1	chr11:67144719-67145181	Hela-S3	cervix:	n/a	n/a
10	MAX	chr11:67137318-67145655	A549	lung:	n/a	chr11:67138167-67138177 chr11:67141256-67141266 chr11:67138019-67138029 chr11:67141367-67141377 chr11:67139214-67139223
11	GATA3	chr11:67138557-67145601	A549	lung:	n/a	n/a
12	NFIC	chr11:67144548-67145380	ECC-1	luminal epithelium:	n/a	chr11:67144752-67144768

No.	Distal block	Cell Line	Cell type
1	chr11:67083205..67091159-chr11:67142322..67150295,9	MCF-7	breast:
2	chr11:67142650..67146172-chr11:67164311..67167140,3	K562	blood:
3	chr11:67070489..67072642-chr11:67143718..67146794,4	MCF-7	breast:
4	chr11:67143181..67146172-chr11:67164311..67167140,2	K562	blood:
5	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
6	chr11:67055479..67057173-chr11:67142777..67145596,2	K562	blood:
7	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
8	chr11:67116951..67127260-chr11:67135118..67146037,42	K562	blood:
9	chr11:67032807..67039777-chr11:67144727..67150865,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256514	TF binding region
CLCF1	TF binding region
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000172531	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12279818	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12285097	0.85[AMR][1000 genomes]
rs12417116	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12417429	1.00[EUR][1000 genomes]
rs12417770	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420556	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs12420763	1.00[JPT][hapmap]
rs12421018	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12421536	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs1573536	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap]
rs17148183	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17880138	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17884022	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17885585	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871033	1.00[EUR][1000 genomes]
rs1871044	1.00[EUR][1000 genomes]
rs2066494	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28364240	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3730140	1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs4382915	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4567468	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930415	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs4930432	1.00[CHB][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930435	1.00[EUR][1000 genomes]
rs61731786	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61758493	0.83[AMR][1000 genomes]
rs61759803	0.83[AMR][1000 genomes]
rs61759806	0.83[AMR][1000 genomes]
rs7396248	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes]
rs868167	0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs887315	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs887316	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887318	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
12	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
13	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
14	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67141800-67152200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr11:67142000-67147600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67142000-67147600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:67142000-67149800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:67142200-67144800	Weak transcription	Spleen	Spleen
6	chr11:67142200-67145000	Weak transcription	Gastric	stomach
7	chr11:67142400-67145600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:67142400-67146400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:67142400-67146400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:67142400-67146800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:67142400-67147000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:67142600-67144800	Weak transcription	Stomach Mucosa	stomach
13	chr11:67142600-67145400	Enhancers	K562	blood
14	chr11:67142600-67145600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:67142600-67146400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:67142600-67146400	Weak transcription	Lung	lung
17	chr11:67142600-67146600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:67142600-67147600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:67142600-67147800	Enhancers	HMEC	breast
20	chr11:67143200-67146000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr11:67143200-67146400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:67143200-67148000	Weak transcription	Primary B cells from cord blood	blood
23	chr11:67143200-67152000	Weak transcription	HSMMtube	muscle
24	chr11:67143400-67145400	Flanking Active TSS	A549	lung
25	chr11:67143400-67149800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:67143600-67144800	Weak transcription	Pancreas	Pancrea
27	chr11:67143600-67145200	Weak transcription	Esophagus	oesophagus
28	chr11:67143600-67146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:67143600-67146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:67143600-67146200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:67143600-67149800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:67143600-67150000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr11:67143800-67144800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr11:67143800-67144800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:67143800-67145000	Weak transcription	HSMM	muscle
36	chr11:67143800-67145200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:67143800-67145400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:67143800-67146200	Weak transcription	NH-A	brain
39	chr11:67143800-67152200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:67144000-67144800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:67144000-67144800	Weak transcription	Right Atrium	heart
42	chr11:67144000-67144800	Weak transcription	NHLF	lung
43	chr11:67144000-67145200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:67144000-67146000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:67144000-67146200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:67144000-67146400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:67144000-67146600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:67144000-67146800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:67144200-67144800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr11:67144200-67144800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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