Variant report

Variant	rs528695942
Chromosome Location	chr11:64948076-64948077
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	HCFC1	chr11:64947881-64950489	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr11:64947750-64950092	IMR90	lung:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
3	EP300	chr11:64948034-64948157	K562	blood:	n/a	n/a
4	MXI1	chr11:64947882-64949502	IMR90	lung:	n/a	n/a
5	CTCF	chr11:64947556-64949294	A549	lung:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
6	RAD21	chr11:64947803-64949131	SK-N-SH	brain:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
7	CTCF	chr11:64948058-64949016	H1-hESC	embryonic stem cell:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
8	CTCF	chr11:64948043-64949063	HCT-116	colon:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
9	TCF12	chr11:64948023-64949404	A549	lung:	n/a	chr11:64949062-64949072 chr11:64948946-64948956
10	WRNIP1	chr11:64948057-64948673	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:64948045-64950989	K562	blood:	n/a	n/a
12	CTCF	chr11:64948020-64948170	GM12874	blood:	n/a	n/a
13	CTCF	chr11:64947980-64948130	GM12870	blood:	n/a	n/a
14	JUN	chr11:64947916-64949759	K562	blood:	n/a	n/a
15	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
16	MAX	chr11:64947933-64950065	K562	blood:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64948506-64948516 chr11:64949219-64949229
17	MTA3	chr11:64948023-64948958	GM12878	blood:	n/a	n/a
18	CTCF	chr11:64947944-64949608	SK-N-SH	brain:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
19	CTCF	chr11:64948020-64948170	HA-sp	spinal cord:	n/a	n/a
20	RAD21	chr11:64947941-64948995	HCT-116	colon:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
21	ZBTB7A	chr11:64948049-64948987	K562	blood:	n/a	n/a
22	GATA1	chr11:64947631-64950412	K562	blood:	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	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
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	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
8	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
9	chr11:64879725..64880624-chr11:64948063..64948868,2	MCF-7	breast:
10	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
11	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
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	chr11:64885115..64885976-chr11:64948064..64949006,5	MCF-7	breast:
17	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
18	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
19	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
20	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
21	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
22	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
23	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
24	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
25	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
26	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
27	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
28	chr11:64849453..64851884-chr11:64947314..64948879,2	K562	blood:
29	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
30	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000255200	TF binding region
ENSG00000254455	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149809	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64927400-64948400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:64933800-64948200	Weak transcription	Ovary	ovary
3	chr11:64937800-64948200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:64947600-64948200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:64947600-64948200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:64947600-64948400	Flanking Active TSS	NHEK	skin
7	chr11:64947600-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr11:64947800-64948200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr11:64947800-64948200	Enhancers	Colon Smooth Muscle	Colon
15	chr11:64947800-64948200	Flanking Active TSS	K562	blood
16	chr11:64947800-64948400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:64947800-64948400	Flanking Active TSS	HMEC	breast
18	chr11:64947800-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:64947800-64948800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr11:64947800-64949600	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:64947800-64950200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:64948000-64948200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr11:64948000-64948200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr11:64948000-64948200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:64948000-64948200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:64948000-64948200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:64948000-64948200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:64948000-64948200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:64948000-64948200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:64948000-64948200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:64948000-64948200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr11:64948000-64948200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:64948000-64948200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr11:64948000-64948200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:64948000-64948200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:64948000-64948200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:64948000-64948200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr11:64948000-64948200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr11:64948000-64948200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:64948000-64948200	Enhancers	Adipose Nuclei	Adipose
44	chr11:64948000-64948200	Enhancers	Brain Germinal Matrix	brain
45	chr11:64948000-64948200	Enhancers	Brain Substantia Nigra	brain
46	chr11:64948000-64948200	Enhancers	Placenta	Placenta
47	chr11:64948000-64948200	Flanking Active TSS	Psoas Muscle	Psoas
48	chr11:64948000-64948200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:64948000-64948200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr11:64948000-64948200	Enhancers	Stomach Mucosa	stomach

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