Variant report

Variant	rs74838991
Chromosome Location	chr11:71274655-71274656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:163)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:163 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:71274620-71274770	HA-sp	spinal cord:	n/a	n/a
2	RAD21	chr11:71274447-71274824	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr11:71274495-71274938	GM12878	blood:	n/a	n/a
4	CTCF	chr11:71274622-71274800	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr11:71274634-71274838	H1-hESC	embryonic stem cell:	n/a	n/a
6	STAT3	chr11:71274489-71274724	MCF10A-Er-Src	breast:	n/a	n/a
7	CTCF	chr11:71274600-71274750	HPAF	blood vessel:	n/a	n/a
8	MAX	chr11:71274597-71274711	K562	blood:	n/a	n/a
9	TBL1XR1	chr11:71274512-71274789	GM12878	blood:	n/a	n/a
10	MXI1	chr11:71274642-71274738	GM12878	blood:	n/a	n/a
11	CTCF	chr11:71274525-71274943	K562	blood:	n/a	n/a
12	KAP1	chr11:71274450-71274967	U2OS	brain:	n/a	n/a
13	CTCF	chr11:71274640-71274790	AG10803	skin:	n/a	n/a
14	CTCF	chr11:71274620-71274770	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr11:71274580-71274730	AG04450	lung:	n/a	n/a
16	CTCF	chr11:71274592-71274846	HepG2	liver:	n/a	n/a
17	SMC3	chr11:71274111-71275038	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr11:71274640-71274790	RPTEC	kidney:	n/a	n/a
19	WRNIP1	chr11:71274527-71274779	GM12878	blood:	n/a	n/a
20	CTCF	chr11:71274632-71274832	GM20000	blood:	n/a	n/a
21	CTCF	chr11:71274620-71274770	GM12864	blood:	n/a	n/a
22	CTCF	chr11:71274608-71274833	LNCaP	prostate:	n/a	n/a
23	ZNF143	chr11:71274547-71274885	GM12878	blood:	n/a	n/a
24	RAD21	chr11:71274593-71274794	K562	blood:	n/a	n/a
25	CTCF	chr11:71274595-71274841	Fibrobl	skin:	n/a	n/a
26	CTCF	chr11:71274397-71274955	HCT-116	colon:	n/a	n/a
27	CTCF	chr11:71274620-71274770	BJ	skin:	n/a	n/a
28	RAD21	chr11:71274428-71274929	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:71274553-71274813	A549	lung:	n/a	n/a
30	RAD21	chr11:71274504-71274881	GM12878	blood:	n/a	n/a
31	GTF2F1	chr11:71274556-71274883	H1-hESC	embryonic stem cell:	n/a	n/a
32	SMC3	chr11:71274502-71274918	HepG2	liver:	n/a	n/a
33	MAFK	chr11:71274587-71274902	HepG2	liver:	n/a	n/a
34	RAD21	chr11:71274533-71274871	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr11:71274581-71274854	HUVEC	blood vessel:	n/a	n/a
36	HCFC1	chr11:71274558-71274832	K562	blood:	n/a	n/a
37	ZNF143	chr11:71274561-71274881	K562	blood:	n/a	n/a
38	RAD21	chr11:71274406-71274980	HepG2	liver:	n/a	n/a
39	SETDB1	chr11:71274470-71274954	U2OS	brain:	n/a	n/a
40	CTCF	chr11:71274640-71274790	GM12871	blood:	n/a	n/a
41	SMC3	chr11:71274566-71274868	Hela-S3	cervix:	n/a	n/a
42	RUNX3	chr11:71274363-71274933	GM12878	blood:	n/a	n/a
43	CTCF	chr11:71274447-71274905	K562	blood:	n/a	n/a
44	MAX	chr11:71274578-71274887	NB4	blood:	n/a	n/a
45	CTCF	chr11:71274640-71274790	GM12874	blood:	n/a	n/a
46	CTCF	chr11:71274625-71274857	GM12891	blood:	n/a	n/a
47	CTCF	chr11:71274640-71274790	HCPEpiC	choroid plexus:	n/a	n/a
48	CTCF	chr11:71274620-71274770	SK-N-SH_RA	brain:	n/a	n/a
49	RAD21	chr11:71274474-71274922	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr11:71274633-71274839	LNCaP	prostate:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:
2	chr11:71272055..71274887-chr11:71280546..71282110,2	K562	blood:
3	chr11:71198148..71200436-chr11:71273726..71275977,2	MCF-7	breast:
4	chr11:71156732..71161621-chr11:71272936..71276184,4	MCF-7	breast:

No data

Variant related genes	Relation type
KRTAP5-10	TF binding region
ENSG00000172893	Chromatin interaction
ENSG00000254682	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv897900	chr11:71234107-71276909	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv897899	chr11:71234107-71277981	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3363568	chr11:71237277-71275754	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3425891	chr11:71237287-71275790	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3528100	chr11:71237332-71275725	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv3528101	chr11:71237332-71275725	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv3432021	chr11:71237346-71275760	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv983039	chr11:71268641-71277624	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	esv3328619	chr11:71272162-71274726	Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	esv3441221	chr11:71272504-71276802	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
15	esv3421476	chr11:71273104-71276402	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	esv11587	chr11:71274225-71275220	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71274200-71276400	Bivalent Enhancer	HepG2	liver
2	chr11:71274400-71274800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
3	chr11:71274400-71274800	Bivalent Enhancer	Osteobl	bone
4	chr11:71274400-71275000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr11:71274400-71275000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:71274600-71274800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr11:71274600-71274800	Enhancers	Brain Substantia Nigra	brain
8	chr11:71274600-71274800	Bivalent/Poised TSS	Fetal Brain Male	brain
9	chr11:71274600-71275200	Enhancers	Spleen	Spleen

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