Variant report

Variant	rs537577428
Chromosome Location	chr11:64949689-64949690
allele	A/C
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	GABPA	chr11:64949096-64949714	K562	blood:	n/a	n/a
2	POLR2A	chr11:64948668-64949744	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr11:64947881-64950489	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:64948624-64949785	ProgFib	skin:	n/a	n/a
5	CHD2	chr11:64948411-64949760	Hela-S3	cervix:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
6	POLR2A	chr11:64949159-64950102	GM12878	blood:	n/a	n/a
7	CCNT2	chr11:64948365-64949782	K562	blood:	n/a	chr11:64949237-64949246 chr11:64949473-64949482 chr11:64948762-64948771 chr11:64949276-64949296 chr11:64948445-64948454 chr11:64949594-64949603
8	POLR2A	chr11:64948320-64950225	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:64949160-64950349	H1-neurons	neurons:	n/a	n/a
10	CHD1	chr11:64949536-64949905	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:64949151-64950383	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr11:64949128-64950195	H1-neurons	neurons:	n/a	n/a
13	MAZ	chr11:64947750-64950092	IMR90	lung:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
14	ELF1	chr11:64949032-64949710	K562	blood:	n/a	chr11:64949399-64949412
15	MAZ	chr11:64948359-64949980	Hela-S3	cervix:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
16	USF1	chr11:64949685-64950049	A549	lung:	n/a	chr11:64949885-64949896
17	POLR2A	chr11:64948542-64949709	MCF-7	breast:	n/a	n/a
18	CTCF	chr11:64949660-64949810	GM12867	blood:	n/a	n/a
19	POLR2A	chr11:64948314-64949736	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:64949143-64949711	GM12892	blood:	n/a	n/a
21	CTCF	chr11:64949560-64949710	GM12875	blood:	n/a	n/a
22	ZNF143	chr11:64948380-64950033	H1-hESC	embryonic stem cell:	n/a	chr11:64948893-64948903 chr11:64948898-64948908 chr11:64948904-64948922
23	POLR2A	chr11:64948612-64949787	GM19193	blood:	n/a	n/a
24	USF1	chr11:64949674-64950099	H1-hESC	embryonic stem cell:	n/a	chr11:64949885-64949896
25	MAX	chr11:64949660-64950033	H1-hESC	embryonic stem cell:	n/a	n/a
26	TCF7L2	chr11:64949621-64949996	Hela-S3	cervix:	n/a	chr11:64949812-64949826
27	ELF1	chr11:64948577-64949737	K562	blood:	n/a	chr11:64949399-64949412 chr11:64948742-64948754
28	MTA3	chr11:64949152-64950218	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:64948507-64949847	GM18526	blood:	n/a	n/a
30	MAX	chr11:64949641-64950126	H1-hESC	embryonic stem cell:	n/a	n/a
31	ELF1	chr11:64949127-64949804	MCF-7	breast:	n/a	chr11:64949399-64949412
32	ZNF263	chr11:64949169-64949951	K562	blood:	n/a	n/a
33	POLR2A	chr11:64948400-64949808	U87	brain:	n/a	n/a
34	POLR2A	chr11:64948435-64949878	GM18505	blood:	n/a	n/a
35	EBF1	chr11:64948422-64950064	GM12878	blood:	n/a	chr11:64948728-64948741 chr11:64949654-64949664 chr11:64949653-64949666 chr11:64948730-64948739
36	ZNF263	chr11:64949176-64950431	HEK293-T-REx	kidney:	n/a	n/a
37	SIN3AK20	chr11:64948257-64950383	MCF-7	breast:	n/a	n/a
38	POLR2A	chr11:64949147-64950320	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:64949133-64949701	HCT-116	colon:	n/a	n/a
40	POLR2A	chr11:64948675-64949741	GM12878	blood:	n/a	n/a
41	USF1	chr11:64949665-64950089	ECC-1	luminal epithelium:	n/a	chr11:64949885-64949896
42	SIN3AK20	chr11:64949381-64950084	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTBP2	chr11:64949424-64950037	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:64948045-64950989	K562	blood:	n/a	n/a
45	POLR2A	chr11:64948329-64950286	K562	blood:	n/a	n/a
46	HMGN3	chr11:64948328-64949819	K562	blood:	n/a	n/a
47	CTCF	chr11:64949580-64949730	SK-N-SH_RA	brain:	n/a	n/a
48	TCF7L2	chr11:64949610-64949926	PANC-1	pancreas:	n/a	chr11:64949812-64949826
49	MAZ	chr11:64948197-64949989	K562	blood:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
50	TBP	chr11:64949557-64950051	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64947686..64949760-chr11:64975928..64978193,2	MCF-7	breast:
3	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
4	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
5	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
6	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
7	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
8	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
9	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
10	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
11	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
12	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
13	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
14	chr11:64949318..64950980-chr11:65546666..65549109,2	MCF-7	breast:
15	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
16	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
17	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
18	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
19	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
20	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
21	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
22	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
23	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
24	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
25	chr11:64948574..64950369-chr11:65028562..65030445,2	MCF-7	breast:
26	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
27	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:
28	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:

Variant related genes	Relation type
ENSG00000254614	TF binding region
CAPN1	TF binding region
ENSG00000014138	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000255173	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS 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	42 gene(s)	inside rSNPs	diseases
3	esv3339354	chr11:64947901-64950749	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	n/a
4	esv3437654	chr11:64948626-64950024	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:64947800-64950200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:64948000-64949800	Active TSS	Brain Cingulate Gyrus	brain
11	chr11:64948000-64949800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:64948000-64949800	Active TSS	Fetal Heart	heart
13	chr11:64948000-64949800	Active TSS	Osteobl	bone
14	chr11:64948000-64950000	Active TSS	Brain Anterior Caudate	brain
15	chr11:64948000-64950000	Active TSS	Brain Hippocampus Middle	brain
16	chr11:64948000-64950000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr11:64948000-64950000	Active TSS	Esophagus	oesophagus
18	chr11:64948000-64950000	Active TSS	Left Ventricle	heart
19	chr11:64948000-64950000	Active TSS	Pancreas	Pancrea
20	chr11:64948000-64950200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:64948000-64950200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:64948000-64950200	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr11:64948000-64950400	Active TSS	Brain Angular Gyrus	brain
24	chr11:64948000-64950400	Active TSS	Fetal Kidney	kidney
25	chr11:64948000-64950400	Active TSS	Right Atrium	heart
26	chr11:64948000-64950400	Active TSS	Small Intestine	intestine
27	chr11:64948000-64950600	Active TSS	NHDF-Ad	bronchial
28	chr11:64948000-64950800	Active TSS	HSMM	muscle
29	chr11:64948000-64951000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:64948000-64951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:64948000-64951000	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr11:64948200-64949800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:64948200-64949800	Active TSS	Rectal Smooth Muscle	rectum
35	chr11:64948200-64949800	Active TSS	K562	blood
36	chr11:64948200-64949800	Active TSS	NH-A	brain
37	chr11:64948200-64950000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:64948200-64950000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:64948200-64950000	Active TSS	Primary T cells from cord blood	blood
40	chr11:64948200-64950000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:64948200-64950000	Active TSS	Psoas Muscle	Psoas
42	chr11:64948200-64950200	Active TSS	Aorta	Aorta
43	chr11:64948200-64950200	Active TSS	Ovary	ovary
44	chr11:64948200-64950200	Active TSS	A549	lung
45	chr11:64948200-64950200	Active TSS	HSMMtube	muscle
46	chr11:64948200-64950200	Active TSS	NHLF	lung
47	chr11:64948200-64950400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:64948200-64950400	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr11:64948200-64950400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:64948200-64950400	Active TSS	GM12878-XiMat	blood

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