Variant report

Variant	rs61731786
Chromosome Location	chr11:67072382-67072383
allele	C/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	MAZ	chr11:67069497-67072451	IMR90	lung:	n/a	chr11:67070837-67070847 chr11:67070159-67070170 chr11:67070272-67070283 chr11:67070272-67070282 chr11:67070155-67070174 chr11:67070158-67070171 chr11:67071385-67071395 chr11:67070158-67070171 chr11:67070273-67070282 chr11:67070271-67070280 chr11:67071867-67071883 chr11:67070274-67070281 chr11:67071259-67071269 chr11:67070158-67070171 chr11:67070160-67070169 chr11:67070160-67070169
2	SIN3AK20	chr11:67069436-67072792	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:67069898-67072555	MCF-7	breast:	n/a	n/a
4	POLR2A	chr11:67072161-67072626	MCF-7	breast:	n/a	n/a
5	ELF1	chr11:67070125-67072403	MCF-7	breast:	n/a	chr11:67070831-67070843 chr11:67070813-67070825 chr11:67070683-67070695 chr11:67070901-67070913 chr11:67070420-67070429 chr11:67071056-67071068
6	POLR2A	chr11:67071375-67072734	SK-N-MC	brain:	n/a	n/a
7	MAX	chr11:67069378-67072693	MCF-7	breast:	n/a	chr11:67070837-67070847 chr11:67070159-67070170 chr11:67070272-67070283 chr11:67070272-67070282 chr11:67070155-67070174 chr11:67070158-67070171 chr11:67071385-67071395 chr11:67070158-67070171 chr11:67070273-67070282 chr11:67070271-67070280 chr11:67071867-67071883 chr11:67070273-67070283 chr11:67070274-67070281 chr11:67071259-67071269 chr11:67070158-67070171 chr11:67070160-67070169 chr11:67070160-67070169

No.	Distal block	Cell Line	Cell type
1	chr11:67069246..67073295-chr11:67139634..67145393,8	MCF-7	breast:
2	chr11:67071730..67073534-chr11:67162398..67164599,2	MCF-7	breast:
3	chr11:67071359..67073756-chr16:3070064..3072908,2	MCF-7	breast:
4	chr11:67071096..67073778-chr17:56708400..56710426,2	MCF-7	breast:
5	chr11:67070778..67073065-chr11:67157993..67159732,2	MCF-7	breast:
6	chr11:67069872..67072644-chr11:67140515..67142125,2	K562	blood:
7	chr11:67070466..67072644-chr11:67139702..67142015,2	K562	blood:
8	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
9	chr11:67070042..67072610-chr11:67159168..67161895,3	MCF-7	breast:
10	chr11:67070995..67072990-chr11:67129655..67131719,2	K562	blood:
11	chr11:67069948..67073118-chr11:67121673..67124639,3	MCF-7	breast:

Variant related genes	Relation type
SSH3	TF binding region
ENSG00000212195	Chromatin interaction
ENSG00000201684	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000253024	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000184697	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000006327	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	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12285097	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12417116	0.98[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12417770	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12417968	1.00[EUR][1000 genomes]
rs12418407	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420556	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12420594	0.82[AMR][1000 genomes]
rs12421018	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12421536	0.82[AMR][1000 genomes]
rs1573536	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574103	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17148080	0.82[AMR][1000 genomes]
rs17148183	0.92[AMR][1000 genomes]
rs17880138	0.86[ASN][1000 genomes]
rs17885585	0.86[ASN][1000 genomes]
rs2066494	0.86[ASN][1000 genomes]
rs28364240	0.88[AMR][1000 genomes]
rs3730140	0.97[AMR][1000 genomes]
rs4084238	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4382915	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4567468	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4616043	1.00[EUR][1000 genomes]
rs4930198	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930414	0.82[AMR][1000 genomes]
rs4930415	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4930416	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61525626	0.82[AMR][1000 genomes]
rs61758493	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61759803	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs61759806	0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7396248	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs868167	0.80[ASN][1000 genomes]
rs885833	0.97[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs887315	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs887316	0.86[ASN][1000 genomes]
rs887318	0.86[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	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers 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	41 gene(s)	inside rSNPs	diseases
6	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv897803	chr11:67067075-67084761	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67067000-67072600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:67069200-67073600	Weak transcription	GM12878-XiMat	blood
3	chr11:67069200-67079200	Weak transcription	K562	blood
4	chr11:67069400-67072400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:67069600-67072400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr11:67070000-67072400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:67070000-67072400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:67070200-67084400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67070400-67083800	Weak transcription	Dnd41	blood
10	chr11:67070600-67072400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:67070600-67072400	Active TSS	NHDF-Ad	bronchial
12	chr11:67071200-67072400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:67071400-67072400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr11:67071400-67072400	Flanking Active TSS	Placenta	Placenta
15	chr11:67071400-67072400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr11:67071400-67072400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr11:67071400-67072600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:67071400-67072600	Flanking Active TSS	Colonic Mucosa	Colon
19	chr11:67071600-67072400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
20	chr11:67071600-67072400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr11:67071600-67072400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:67071600-67072400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr11:67071600-67072400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr11:67071600-67072400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:67071600-67072400	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr11:67071600-67072400	Bivalent Enhancer	Fetal Thymus	thymus
27	chr11:67071600-67072400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:67071600-67072400	Flanking Active TSS	NHEK	skin
29	chr11:67071600-67072400	Flanking Active TSS	Osteobl	bone
30	chr11:67071600-67072600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:67071600-67072600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:67071600-67072600	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr11:67071600-67072600	Flanking Active TSS	Gastric	stomach
34	chr11:67071600-67072600	Flanking Active TSS	Hela-S3	cervix
35	chr11:67071600-67072600	Flanking Active TSS	HMEC	breast
36	chr11:67071600-67072800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr11:67071800-67072400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:67071800-67072400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:67071800-67072400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:67071800-67072400	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr11:67071800-67072400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr11:67071800-67072400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:67071800-67072400	Enhancers	Small Intestine	intestine
44	chr11:67071800-67072400	Flanking Active TSS	NH-A	brain
45	chr11:67071800-67072600	Flanking Active TSS	Esophagus	oesophagus
46	chr11:67071800-67072600	Bivalent Enhancer	Thymus	Thymus
47	chr11:67071800-67084400	Weak transcription	Fetal Kidney	kidney
48	chr11:67072000-67072400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:67072000-67072400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:67072000-67072400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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