Variant report

Variant	rs34340579
Chromosome Location	chr11:64948327-64948328
allele	-/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	CTCF	chr11:64948260-64948971	A549	lung:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
2	YY1	chr11:64948286-64948665	GM12892	blood:	n/a	chr11:64948445-64948456
3	HCFC1	chr11:64947881-64950489	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:64948192-64949122	K562	blood:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
5	HDAC2	chr11:64948317-64949027	HepG2	liver:	n/a	n/a
6	RAD21	chr11:64948267-64948708	GM12878	blood:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
7	POLR2A	chr11:64948320-64950225	HepG2	liver:	n/a	n/a
8	RAD21	chr11:64948292-64948762	A549	lung:	n/a	chr11:64948483-64948502 chr11:64948486-64948499
9	STAT5A	chr11:64948327-64948671	GM12878	blood:	n/a	n/a
10	RAD21	chr11:64948248-64948764	ECC-1	luminal epithelium:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
11	MAZ	chr11:64947750-64950092	IMR90	lung:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
12	STAT5A	chr11:64948272-64948717	GM12878	blood:	n/a	n/a
13	RAD21	chr11:64948171-64949079	H1-hESC	embryonic stem cell:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
14	RCOR1	chr11:64948216-64948341	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr11:64948209-64948957	ECC-1	luminal epithelium:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
16	CTCF	chr11:64948200-64948350	HFF-Myc	foreskin:	n/a	n/a
17	POLR2A	chr11:64948314-64949736	HUVEC	blood vessel:	n/a	n/a
18	FOXM1	chr11:64948303-64948825	GM12878	blood:	n/a	n/a
19	YY1	chr11:64948292-64949024	GM12878	blood:	n/a	chr11:64948445-64948456 chr11:64948863-64948877
20	RAD21	chr11:64948289-64948576	K562	blood:	n/a	chr11:64948483-64948502 chr11:64948486-64948499
21	CTCF	chr11:64948281-64949059	GM12878	blood:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
22	ZNF143	chr11:64948317-64949462	GM12878	blood:	n/a	chr11:64948893-64948903 chr11:64948898-64948908 chr11:64948904-64948922
23	EGR1	chr11:64948293-64948673	K562	blood:	n/a	chr11:64948441-64948455 chr11:64948376-64948386 chr11:64948365-64948378
24	MXI1	chr11:64947882-64949502	IMR90	lung:	n/a	n/a
25	HDAC2	chr11:64948280-64948648	K562	blood:	n/a	n/a
26	SMC3	chr11:64948316-64948971	Hela-S3	cervix:	n/a	chr11:64948487-64948501
27	RAD21	chr11:64948217-64949027	SK-N-SH_RA	brain:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
28	RCOR1	chr11:64948144-64948780	GM12878	blood:	n/a	n/a
29	RAD21	chr11:64948253-64948657	GM12878	blood:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
30	RAD21	chr11:64948289-64949359	IMR90	lung:	n/a	chr11:64948483-64948502 chr11:64948486-64948499
31	YY1	chr11:64948289-64949070	K562	blood:	n/a	chr11:64948445-64948456 chr11:64948863-64948877
32	ZMIZ1	chr11:64948318-64949385	K562	blood:	n/a	n/a
33	RAD21	chr11:64948282-64948955	H1-hESC	embryonic stem cell:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
34	CTCF	chr11:64947556-64949294	A549	lung:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
35	RAD21	chr11:64947803-64949131	SK-N-SH	brain:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
36	SIN3AK20	chr11:64948257-64950383	MCF-7	breast:	n/a	n/a
37	CTCF	chr11:64948297-64949057	H1-hESC	embryonic stem cell:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
38	CTCF	chr11:64948058-64949016	H1-hESC	embryonic stem cell:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
39	RAD21	chr11:64948245-64949017	HepG2	liver:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
40	CTCF	chr11:64948265-64948776	MCF-7	breast:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
41	TEAD4	chr11:64948301-64948987	K562	blood:	n/a	n/a
42	CTCF	chr11:64948043-64949063	HCT-116	colon:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
43	MAX	chr11:64948289-64949508	MCF-7	breast:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64948506-64948516 chr11:64949219-64949229
44	TCF12	chr11:64948023-64949404	A549	lung:	n/a	chr11:64949062-64949072 chr11:64948946-64948956
45	WRNIP1	chr11:64948057-64948673	GM12878	blood:	n/a	n/a
46	POLR2A	chr11:64948045-64950989	K562	blood:	n/a	n/a
47	MAZ	chr11:64948197-64949989	K562	blood:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
48	CTCF	chr11:64948293-64949004	MCF-7	breast:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
49	RAD21	chr11:64948088-64948999	HepG2	liver:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
50	CTCF	chr11:64948301-64949087	K562	blood:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64948311-64948361	Hela-S3	cervix:	n/a
2	chr11:64948311-64948361	HCPEpiC	choroid plexus:	n/a
3	chr11:64948311-64948361	CMK	blood:	n/a
4	chr11:64948311-64948361	AoSMC	blood vessel:	n/a
5	chr11:64948311-64948361	HepG2	liver:	n/a
6	chr11:64948311-64948361	AG09309	skin:	n/a
7	chr11:64948311-64948361	LNCaP	prostate:	n/a
8	chr11:64948311-64948361	A549	lung:	n/a
9	chr11:64948311-64948361	HCT-116	colon:	n/a
10	chr11:64948311-64948361	MCF-7	breast:	n/a
11	chr11:64948311-64948361	PFSK-1	brain:	n/a
12	chr11:64948311-64948361	ProgFib	skin:	n/a
13	chr11:64948311-64948361	AG04449	skin:	fetal
14	chr11:64948311-64948361	GM06990	blood:	n/a
15	chr11:64948311-64948361	HRPEpiC	eye:	n/a
16	chr11:64948311-64948361	GM12878	blood:	n/a
17	chr11:64948311-64948361	U87	brain:	n/a
18	chr11:64948311-64948361	HUVEC	blood vessel:	n/a
19	chr11:64948311-64948361	SK-N-SH	brain:	n/a
20	chr11:64948311-64948361	ovcar-3	ovarian:	n/a
21	chr11:64948311-64948361	AG09319	gingival:	n/a
22	chr11:64948311-64948361	SK-N-SH_RA	brain:	n/a
23	chr11:64948311-64948361	MCF10A-Er-Src	breast:	n/a
24	chr11:64948311-64948361	HCM	heart:	n/a
25	chr11:64948311-64948361	NHDF-neo	bronchial:	n/a
26	chr11:64948311-64948361	Jurkat	blood:	n/a
27	chr11:64948311-64948361	AG04450	lung:	fetal
28	chr11:64948311-64948361	HCF	heart:	n/a
29	chr11:64948311-64948361	AG10803	skin:	n/a
30	chr11:64948311-64948361	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:64948311-64948361	NT2-D1	testis:	n/a
32	chr11:64948311-64948361	HAEpiC	amniotic membrane:	n/a
33	chr11:64948311-64948361	PANC-1	pancreas:	n/a
34	chr11:64948311-64948361	PrEC	prostate:	n/a
35	chr11:64948311-64948361	Caco-2	colon:	n/a
36	chr11:64948311-64948361	K562	blood:	n/a
37	chr11:64948311-64948361	BE2_C	brain:	n/a
38	chr11:64948311-64948361	HRE	kidney:	n/a
39	chr11:64948311-64948361	HRCEpiC	kidney:	n/a
40	chr11:64948311-64948361	NB4	blood:	n/a
41	chr11:64948311-64948361	GM12892	blood:	n/a
42	chr11:64948311-64948361	BJ	skin:	n/a
43	chr11:64948311-64948361	SK-N-MC	brain:	n/a
44	chr11:64948311-64948361	H1-hESC	embryonic stem cell:	embryo
45	chr11:64948311-64948361	HEK293	kidney:	embryo
46	chr11:64948311-64948361	HIPEpiC	eye:	n/a
47	chr11:64948311-64948361	T-47D	breast:	n/a
48	chr11:64948311-64948361	HMEC	breast:	n/a
49	chr11:64948311-64948361	RPTEC	kidney:	n/a
50	chr11:64948311-64948361	HL-60	blood:	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	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
4	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
5	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
6	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
7	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
8	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
9	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
10	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
11	chr11:64879725..64880624-chr11:64948063..64948868,2	MCF-7	breast:
12	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
13	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
14	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
15	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
16	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
17	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
18	chr11:64885115..64885976-chr11:64948064..64949006,5	MCF-7	breast:
19	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
20	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
21	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
22	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
23	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
24	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
25	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
26	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
27	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
28	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
29	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
30	chr11:64849453..64851884-chr11:64947314..64948879,2	K562	blood:
31	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
32	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000255200	TF binding region
ENSG00000255200	CpG island
CAPN1	CpG island
ENSG00000168062	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000255173	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:127 , 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	chr11:64947600-64948400	Flanking Active TSS	NHEK	skin
3	chr11:64947600-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr11:64947800-64948400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:64947800-64948400	Flanking Active TSS	HMEC	breast
11	chr11:64947800-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:64947800-64948800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr11:64947800-64949600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:64947800-64950200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr11:64948000-64948400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
19	chr11:64948000-64948400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr11:64948000-64948400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:64948000-64948400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:64948000-64948400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:64948000-64948400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:64948000-64948400	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr11:64948000-64948400	Flanking Active TSS	Fetal Intestine Large	intestine
26	chr11:64948000-64948400	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr11:64948000-64948400	Flanking Active TSS	Fetal Lung	lung
28	chr11:64948000-64948400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
29	chr11:64948000-64948400	Enhancers	Lung	lung
30	chr11:64948000-64948400	Enhancers	Spleen	Spleen
31	chr11:64948000-64948400	Flanking Active TSS	HUVEC	blood vessel
32	chr11:64948000-64948600	Flanking Active TSS	Primary B cells from peripheral blood	blood
33	chr11:64948000-64948600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr11:64948000-64948600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:64948000-64948600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr11:64948000-64948600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:64948000-64948600	Flanking Active TSS	Liver	Liver
38	chr11:64948000-64948600	Flanking Active TSS	Fetal Stomach	stomach
39	chr11:64948000-64948600	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:64948000-64948600	Flanking Active TSS	Thymus	Thymus
41	chr11:64948000-64948600	Flanking Active TSS	Hela-S3	cervix
42	chr11:64948000-64948800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:64948000-64948800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr11:64948000-64948800	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr11:64948000-64948800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:64948000-64948800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr11:64948000-64948800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:64948000-64948800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:64948000-64948800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr11:64948000-64948800	Flanking Active TSS	Fetal Brain Female	brain

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