Variant report

Variant	rs12271002
Chromosome Location	chr11:107641744-107641745
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	chr11:107641233-107642315	SK-N-SH	brain:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
2	CTCF	chr11:107641720-107642147	MCF-7	breast:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
3	RAD21	chr11:107641548-107642189	HCT-116	colon:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
4	CTCF	chr11:107641721-107642123	IMR90	lung:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
5	CTCF	chr11:107641700-107642160	A549	lung:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
6	RAD21	chr11:107641709-107642162	ECC-1	luminal epithelium:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
7	CTCF	chr11:107641620-107641770	GM12871	blood:	n/a	n/a
8	SMC3	chr11:107641222-107642346	SK-N-SH	brain:	n/a	chr11:107641922-107641936
9	RAD21	chr11:107641724-107642108	GM12878	blood:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
10	SMC3	chr11:107641587-107642128	GM12878	blood:	n/a	chr11:107641922-107641936
11	RAD21	chr11:107641700-107642115	SK-N-SH_RA	brain:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
12	CEBPB	chr11:107641274-107641972	IMR90	lung:	n/a	n/a
13	CTCF	chr11:107641720-107641870	GM12872	blood:	n/a	n/a
14	CTCF	chr11:107641697-107642135	K562	blood:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
15	CTCF	chr11:107641732-107642151	GM12878	blood:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
16	CTCF	chr11:107641600-107641750	HFF-Myc	foreskin:	n/a	n/a
17	SMC3	chr11:107641515-107642111	Hela-S3	cervix:	n/a	chr11:107641922-107641936
18	RAD21	chr11:107641500-107642307	SK-N-SH	brain:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
19	RAD21	chr11:107641702-107642123	Hela-S3	cervix:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
20	CTCF	chr11:107641740-107641890	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:107641123-107641835	U87	brain:	n/a	n/a
22	RAD21	chr11:107641609-107642186	HCT-116	colon:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
23	RAD21	chr11:107641717-107642149	H1-hESC	embryonic stem cell:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
24	FOXA1	chr11:107641693-107642083	T-47D	breast:	n/a	n/a
25	RAD21	chr11:107641665-107642114	H1-hESC	embryonic stem cell:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
26	CTCF	chr11:107641729-107642049	A549	lung:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
27	RAD21	chr11:107641665-107642172	A549	lung:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
28	CTCF	chr11:107641516-107642274	A549	lung:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
29	POLR2A	chr11:107641197-107641770	U87	brain:	n/a	n/a
30	CTCF	chr11:107641680-107641970	HFF-Myc	foreskin:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
31	RAD21	chr11:107641715-107642134	HepG2	liver:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
32	RAD21	chr11:107641701-107642188	A549	lung:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
33	CTCF	chr11:107641640-107641790	GM12872	blood:	n/a	n/a
34	CTCF	chr11:107641684-107642132	MCF-7	breast:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937
35	CTCF	chr11:107641620-107641770	GM12866	blood:	n/a	n/a
36	RAD21	chr11:107641659-107642185	ECC-1	luminal epithelium:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
37	RAD21	chr11:107641464-107642119	IMR90	lung:	n/a	chr11:107641920-107641932 chr11:107641918-107641937
38	CTCF	chr11:107641640-107642209	HCT-116	colon:	n/a	chr11:107641920-107641938 chr11:107641925-107641933 chr11:107641915-107641936 chr11:107641921-107641937

No.	Distal block	Cell Line	Cell type
1	chr11:107560069..107560995-chr11:107641497..107642096,3	MCF-7	breast:
2	chr11:107447313..107447854-chr11:107640968..107641965,2	K562	blood:
3	chr11:107614634..107615702-chr11:107641448..107642000,3	MCF-7	breast:
4	chr11:107611768..107612356-chr11:107641576..107642546,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214306	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11212349	1.00[AFR][1000 genomes]
rs11212367	0.89[AFR][1000 genomes];1.00[AMR][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	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv898378	chr11:107580985-107847983	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv521771	chr11:107590335-107904646	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1048938	chr11:107604473-107929950	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
12	nsv556378	chr11:107621538-107671626	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
13	nsv556379	chr11:107627609-107671626	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
14	nsv527748	chr11:107627852-107670228	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107638600-107642000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:107638800-107641800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:107639400-107641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:107639400-107641800	Enhancers	HSMMtube	muscle
5	chr11:107639600-107642000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:107639800-107641800	Enhancers	HSMM	muscle
7	chr11:107639800-107641800	Enhancers	NHDF-Ad	bronchial
8	chr11:107640000-107641800	Enhancers	GM12878-XiMat	blood
9	chr11:107640000-107642200	Enhancers	Fetal Brain Female	brain
10	chr11:107640400-107642400	Enhancers	Fetal Brain Male	brain
11	chr11:107640600-107642000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:107641000-107641800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr11:107641200-107641800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:107641200-107641800	Enhancers	Psoas Muscle	Psoas
15	chr11:107641200-107641800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:107641400-107641800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:107641400-107641800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:107641400-107641800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr11:107641400-107641800	Flanking Active TSS	NH-A	brain
20	chr11:107641400-107641800	Flanking Active TSS	Osteobl	bone
21	chr11:107641400-107642000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr11:107641600-107641800	Active TSS	Skeletal Muscle Female	skeletal muscle

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