Variant report

Variant	rs887318
Chromosome Location	chr11:67184206-67184207
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	CTCF	chr11:67184060-67184210	HBMEC	blood vessel:	n/a	chr11:67184123-67184132 chr11:67184117-67184135
2	CTCF	chr11:67184060-67184210	HepG2	liver:	n/a	chr11:67184123-67184132 chr11:67184117-67184135
3	CTCF	chr11:67184120-67184270	A549	lung:	n/a	chr11:67184123-67184132
4	ZKSCAN1	chr11:67184173-67184563	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
2	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:
3	chr11:67054592..67057284-chr11:67183944..67185616,2	MCF-7	breast:

Variant related genes	Relation type
CARNS1	TF binding region
ENSG00000172932	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000110697	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12279818	0.86[ASN][1000 genomes]
rs12284337	1.00[CHB][hapmap]
rs12417116	0.80[ASN][1000 genomes]
rs12417770	0.86[ASN][1000 genomes]
rs12418407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12420556	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs12420763	1.00[JPT][hapmap]
rs12421018	0.86[ASN][1000 genomes]
rs1573536	1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs1574103	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs17148183	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[ASN][1000 genomes]
rs17880138	1.00[ASN][1000 genomes]
rs17884022	0.82[AMR][1000 genomes]
rs17885585	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2066494	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3730140	1.00[CHB][hapmap]
rs4382915	1.00[ASN][1000 genomes]
rs4567468	0.86[ASN][1000 genomes]
rs4930198	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]
rs4930416	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4930432	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs61731786	0.86[ASN][1000 genomes]
rs7396248	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs8191439	1.00[CHB][hapmap];1.00[TSI][hapmap]
rs868167	1.00[ASW][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs885833	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs887315	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs887316	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription 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 miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
23	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
24	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription 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	132 gene(s)	inside rSNPs	diseases
25	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	esv3396892	chr11:67182001-67184549	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	esv3352884	chr11:67182326-67184374	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67182400-67184800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:67182400-67185200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:67182400-67185400	Enhancers	Lung	lung
4	chr11:67182400-67187200	Enhancers	Pancreas	Pancrea
5	chr11:67182600-67184600	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:67182600-67184800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
7	chr11:67182600-67185600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr11:67182600-67186000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:67182600-67187600	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr11:67182600-67188000	Enhancers	Spleen	Spleen
11	chr11:67182800-67185000	Enhancers	Adipose Nuclei	Adipose
12	chr11:67182800-67185200	Weak transcription	Liver	Liver
13	chr11:67183000-67184400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:67183000-67184600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:67183000-67185000	Enhancers	A549	lung
16	chr11:67183000-67185200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr11:67183000-67186600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:67183000-67186800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr11:67183000-67187600	Enhancers	Fetal Thymus	thymus
20	chr11:67183000-67187600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:67183000-67187600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:67183000-67187800	Enhancers	Primary hematopoietic stem cells	blood
23	chr11:67183000-67188000	Enhancers	Esophagus	oesophagus
24	chr11:67183000-67188000	Enhancers	Fetal Lung	lung
25	chr11:67183200-67184600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:67183200-67184600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:67183200-67187600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:67183200-67188000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:67183400-67184400	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr11:67183400-67184400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:67183400-67184400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:67183400-67185200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr11:67183400-67185200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr11:67183400-67185800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr11:67183400-67185800	Weak transcription	Colonic Mucosa	Colon
36	chr11:67183400-67187800	Enhancers	Right Ventricle	heart
37	chr11:67183400-67188000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:67183400-67188000	Enhancers	Left Ventricle	heart
39	chr11:67183400-67188200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr11:67183400-67188200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:67183600-67184600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr11:67183600-67184600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:67183600-67184600	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr11:67183600-67184800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr11:67183600-67184800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:67183600-67184800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:67183600-67185000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr11:67183600-67185000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:67183600-67185000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr11:67183600-67185600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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