Variant report

Variant	rs75557976
Chromosome Location	chr11:64949283-64949284
allele	A/G
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	E2F4	chr11:64949209-64949317	MCF10A-Er-Src	breast:	n/a	n/a
2	GABPA	chr11:64949096-64949714	K562	blood:	n/a	n/a
3	EGR1	chr11:64949042-64949480	K562	blood:	n/a	chr11:64949220-64949230
4	POLR2A	chr11:64948668-64949744	HUVEC	blood vessel:	n/a	n/a
5	JUN	chr11:64948843-64949432	K562	blood:	n/a	n/a
6	POLR2A	chr11:64949171-64949486	A549	lung:	n/a	n/a
7	HCFC1	chr11:64949186-64949346	K562	blood:	n/a	n/a
8	NR2F2	chr11:64949142-64949366	K562	blood:	n/a	n/a
9	TAL1	chr11:64948882-64949453	K562	blood:	n/a	n/a
10	POLR2A	chr11:64949200-64949335	Hela-S3	cervix:	n/a	n/a
11	MAX	chr11:64949111-64949355	K562	blood:	n/a	chr11:64949232-64949242 chr11:64949219-64949229
12	RAD21	chr11:64949129-64949339	K562	blood:	n/a	n/a
13	HCFC1	chr11:64947881-64950489	Hela-S3	cervix:	n/a	n/a
14	RCOR1	chr11:64948365-64949658	K562	blood:	n/a	n/a
15	POLR2A	chr11:64948624-64949785	ProgFib	skin:	n/a	n/a
16	EP300	chr11:64948443-64949452	K562	blood:	n/a	chr11:64948854-64948870 chr11:64948892-64948908
17	ELF1	chr11:64949251-64949615	A549	lung:	n/a	chr11:64949399-64949412
18	MYC	chr11:64948366-64949644	K562	blood:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64948506-64948516 chr11:64949219-64949229
19	CHD2	chr11:64948411-64949760	Hela-S3	cervix:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
20	POLR2A	chr11:64949159-64950102	GM12878	blood:	n/a	n/a
21	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
22	ELF1	chr11:64949141-64949687	GM12878	blood:	n/a	chr11:64949399-64949412
23	POLR2A	chr11:64948320-64950225	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:64949160-64950349	H1-neurons	neurons:	n/a	n/a
25	TAF1	chr11:64949146-64949340	K562	blood:	n/a	n/a
26	TCF12	chr11:64948368-64949434	ECC-1	luminal epithelium:	n/a	chr11:64949062-64949072 chr11:64948946-64948956
27	ELF1	chr11:64949154-64949601	SK-N-SH	brain:	n/a	chr11:64949399-64949412
28	POLR2A	chr11:64949151-64950383	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr11:64949128-64950195	H1-neurons	neurons:	n/a	n/a
30	FOSL2	chr11:64949017-64949521	SK-N-SH	brain:	n/a	n/a
31	MAZ	chr11:64947750-64950092	IMR90	lung:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
32	EGR1	chr11:64949149-64949352	K562	blood:	n/a	chr11:64949220-64949230
33	ELF1	chr11:64949032-64949710	K562	blood:	n/a	chr11:64949399-64949412
34	MAZ	chr11:64948359-64949980	Hela-S3	cervix:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
35	POLR2A	chr11:64948542-64949709	MCF-7	breast:	n/a	n/a
36	POLR2A	chr11:64949148-64949681	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr11:64948667-64949620	K562	blood:	n/a	n/a
38	POLR2A	chr11:64948314-64949736	HUVEC	blood vessel:	n/a	n/a
39	MAX	chr11:64948411-64949358	Hela-S3	cervix:	n/a	chr11:64949232-64949242 chr11:64948506-64948516 chr11:64949219-64949229
40	POLR2A	chr11:64949143-64949711	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:64948699-64949604	NB4	blood:	n/a	n/a
42	ZBTB33	chr11:64948971-64949521	SK-N-SH	brain:	n/a	chr11:64949203-64949218
43	POLR2A	chr11:64948708-64949406	HepG2	liver:	n/a	n/a
44	NFIC	chr11:64948961-64949501	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr11:64949172-64949313	A549	lung:	n/a	n/a
46	POLR2A	chr11:64949162-64949341	A549	lung:	n/a	n/a
47	YY1	chr11:64949129-64949355	K562	blood:	n/a	n/a
48	POLR2A	chr11:64948573-64949594	Gliobla	brain:	n/a	n/a
49	POLR2A	chr11:64948783-64949565	GM10847	blood:	n/a	n/a
50	GATA3	chr11:64948617-64949654	A549	lung:	n/a	chr11:64949285-64949294 chr11:64949285-64949295 chr11:64949276-64949293 chr11:64949287-64949294 chr11:64949283-64949296

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	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
8	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
9	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
10	chr11:64948818..64949639-chr5:10249655..10250314,2	Hela-S3	cervix:
11	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
12	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
13	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
14	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
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	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
19	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
20	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
21	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
22	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
23	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
24	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
25	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
26	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
27	chr11:64948574..64950369-chr11:65028562..65030445,2	MCF-7	breast:
28	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
29	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:
30	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:

Variant related genes	Relation type
ENSG00000254614	TF binding region
CAPN1	TF binding region
ENSG00000014216	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000150756	Chromatin interaction
ENSG00000168061	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	chr11:64947800-64949600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:64947800-64950200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr11:64948000-64949600	Active TSS	Colonic Mucosa	Colon
12	chr11:64948000-64949800	Active TSS	Brain Cingulate Gyrus	brain
13	chr11:64948000-64949800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:64948000-64949800	Active TSS	Fetal Heart	heart
15	chr11:64948000-64949800	Active TSS	Osteobl	bone
16	chr11:64948000-64950000	Active TSS	Brain Anterior Caudate	brain
17	chr11:64948000-64950000	Active TSS	Brain Hippocampus Middle	brain
18	chr11:64948000-64950000	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr11:64948000-64950000	Active TSS	Esophagus	oesophagus
20	chr11:64948000-64950000	Active TSS	Left Ventricle	heart
21	chr11:64948000-64950000	Active TSS	Pancreas	Pancrea
22	chr11:64948000-64950200	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:64948000-64950200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:64948000-64950200	Active TSS	Sigmoid Colon	Sigmoid Colon
25	chr11:64948000-64950400	Active TSS	Brain Angular Gyrus	brain
26	chr11:64948000-64950400	Active TSS	Fetal Kidney	kidney
27	chr11:64948000-64950400	Active TSS	Right Atrium	heart
28	chr11:64948000-64950400	Active TSS	Small Intestine	intestine
29	chr11:64948000-64950600	Active TSS	NHDF-Ad	bronchial
30	chr11:64948000-64950800	Active TSS	HSMM	muscle
31	chr11:64948000-64951000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:64948000-64951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:64948000-64951000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:64948200-64949400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:64948200-64949600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr11:64948200-64949800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:64948200-64949800	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:64948200-64949800	Active TSS	K562	blood
40	chr11:64948200-64949800	Active TSS	NH-A	brain
41	chr11:64948200-64950000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:64948200-64950000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:64948200-64950000	Active TSS	Primary T cells from cord blood	blood
44	chr11:64948200-64950000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:64948200-64950000	Active TSS	Psoas Muscle	Psoas
46	chr11:64948200-64950200	Active TSS	Aorta	Aorta
47	chr11:64948200-64950200	Active TSS	Ovary	ovary
48	chr11:64948200-64950200	Active TSS	A549	lung
49	chr11:64948200-64950200	Active TSS	HSMMtube	muscle
50	chr11:64948200-64950200	Active TSS	NHLF	lung

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