Variant report

Variant	rs112895629
Chromosome Location	chr11:67056640-67056641
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	POLR2A	chr11:67055368-67057200	HUVEC	blood vessel:	n/a	n/a
2	RAD21	chr11:67056308-67056720	K562	blood:	n/a	chr11:67056539-67056552 chr11:67056537-67056551 chr11:67056535-67056549
3	CTCF	chr11:67056500-67056650	GM12867	blood:	n/a	chr11:67056535-67056548 chr11:67056533-67056551
4	SIN3AK20	chr11:67055589-67057726	MCF-7	breast:	n/a	n/a
5	MAX	chr11:67054376-67056926	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
6	RCOR1	chr11:67055686-67056666	GM12878	blood:	n/a	n/a
7	CTCF	chr11:67056475-67056655	GM20000	blood:	n/a	chr11:67056535-67056548 chr11:67056533-67056551
8	POLR2A	chr11:67054570-67056708	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr11:67055202-67057241	PFSK-1	brain:	n/a	n/a
10	FOXP2	chr11:67055604-67057223	PFSK-1	brain:	n/a	n/a
11	SP1	chr11:67055633-67056740	GM12878	blood:	n/a	chr11:67056482-67056494 chr11:67055725-67055739 chr11:67056467-67056479 chr11:67056483-67056497 chr11:67056467-67056478 chr11:67056482-67056493 chr11:67056469-67056478
12	CTCF	chr11:67056373-67056688	GM19239	blood:	n/a	chr11:67056535-67056548 chr11:67056471-67056484 chr11:67056533-67056551
13	ZBTB7A	chr11:67056272-67057010	K562	blood:	n/a	n/a
14	POLR2A	chr11:67054373-67057033	GM12878	blood:	n/a	n/a
15	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
16	CEBPD	chr11:67055511-67057041	HepG2	liver:	n/a	n/a
17	NRF1	chr11:67056206-67056769	GM12878	blood:	n/a	chr11:67056436-67056445 chr11:67056435-67056446 chr11:67056551-67056560 chr11:67056436-67056447 chr11:67056433-67056447
18	MXI1	chr11:67055725-67056703	Hela-S3	cervix:	n/a	n/a
19	RAD21	chr11:67056336-67056705	H1-hESC	embryonic stem cell:	n/a	chr11:67056539-67056552 chr11:67056537-67056551 chr11:67056535-67056549
20	POLR2A	chr11:67054758-67056683	U87	brain:	n/a	n/a
21	ELF1	chr11:67055426-67057047	GM12878	blood:	n/a	chr11:67056493-67056506
22	POLR2A	chr11:67054191-67056657	GM12891	blood:	n/a	n/a
23	CTCF	chr11:67056457-67056646	MCF-7	breast:	n/a	chr11:67056535-67056548 chr11:67056471-67056484 chr11:67056533-67056551
24	TBP	chr11:67055831-67056686	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:67054024-67056735	GM12878	blood:	n/a	n/a
26	RAD21	chr11:67056369-67056664	GM12878	blood:	n/a	chr11:67056539-67056552 chr11:67056537-67056551 chr11:67056535-67056549
27	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
28	TAF1	chr11:67055727-67056650	A549	lung:	n/a	n/a
29	CTCF	chr11:67056400-67056670	HFF-Myc	foreskin:	n/a	chr11:67056535-67056548 chr11:67056471-67056484 chr11:67056533-67056551
30	RAD21	chr11:67056346-67056707	A549	lung:	n/a	chr11:67056539-67056552 chr11:67056537-67056551 chr11:67056535-67056549
31	BHLHE40	chr11:67055665-67056713	GM12878	blood:	n/a	chr11:67056547-67056563 chr11:67056531-67056547 chr11:67056111-67056127
32	NRF1	chr11:67055837-67056958	SK-N-SH	brain:	n/a	chr11:67056436-67056445 chr11:67056435-67056446 chr11:67056119-67056133 chr11:67056551-67056560 chr11:67056436-67056447 chr11:67056433-67056447
33	POLR2A	chr11:67055426-67057534	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:67056520-67056670	HCM	heart:	n/a	chr11:67056535-67056548 chr11:67056533-67056551
35	MYC	chr11:67055333-67056984	A549	lung:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
36	POLR2A	chr11:67054037-67057093	PFSK-1	brain:	n/a	n/a
37	GABPA	chr11:67055566-67056745	SK-N-SH	brain:	n/a	chr11:67056436-67056445 chr11:67056119-67056133 chr11:67056551-67056560 chr11:67056436-67056447 chr11:67056433-67056447
38	ELF1	chr11:67056230-67056739	K562	blood:	n/a	chr11:67056493-67056506
39	HCFC1	chr11:67055314-67057493	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr11:67054389-67057085	Hela-S3	cervix:	n/a	n/a
41	SPI1	chr11:67055575-67056710	HL-60	blood:	n/a	chr11:67055725-67055738 chr11:67056490-67056497 chr11:67056465-67056478 chr11:67056007-67056014
42	POLR2A	chr11:67041841-67058702	HL-60	blood:	n/a	n/a
43	RCOR1	chr11:67055780-67056740	HepG2	liver:	n/a	n/a
44	TAF1	chr11:67055722-67057060	HepG2	liver:	n/a	n/a
45	CTCF	chr11:67056492-67056672	GM13976	blood:	n/a	chr11:67056535-67056548 chr11:67056533-67056551
46	SIN3AK20	chr11:67056309-67056680	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:67054567-67057059	ECC-1	luminal epithelium:	n/a	n/a
48	FOXM1	chr11:67055270-67056790	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:67053161-67058605	NB4	blood:	n/a	n/a
50	MXI1	chr11:67055564-67057043	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67053474..67057507-chr11:67138689..67143945,8	MCF-7	breast:
2	chr11:67055572..67057454-chr15:91474041..91476602,2	MCF-7	breast:
3	chr11:67033464..67034256-chr11:67056090..67056695,3	MCF-7	breast:
4	chr11:67054274..67056695-chr11:67119376..67121625,2	K562	blood:
5	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
6	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
7	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
8	chr11:66821441..66825228-chr11:67054009..67057657,5	MCF-7	breast:
9	chr11:67056211..67059053-chr11:67235087..67237043,2	MCF-7	breast:
10	chr11:67033435..67034183-chr11:67056208..67056959,2	K562	blood:
11	chr11:67055858..67057082-chr3:73160101..73160609,3	Hela-S3	cervix:
12	chr11:67055923..67056800-chr15:90744214..90744805,2	NB4	blood:
13	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
14	chr11:67056267..67057775-chr15:68549196..68551810,2	MCF-7	breast:
15	chr11:67056152..67057908-chr11:67157420..67159394,2	MCF-7	breast:
16	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
17	chr11:67033837..67034854-chr11:67056054..67056870,3	MCF-7	breast:
18	chr11:66793222..66795910-chr11:67054347..67057344,2	MCF-7	breast:
19	chr11:67055669..67056641-chr17:72744389..72745314,2	NB4	blood:
20	chr11:67055136..67057390-chr11:67140087..67141656,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000173120	Chromatin interaction
ENSG00000266036	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000185033	Chromatin interaction
ENSG00000109062	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000128973	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000264624	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000184508	Chromatin interaction
ENSG00000173020	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000223247	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
9	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
10	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
11	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
12	nsv897802	chr11:67051245-67075024	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3404977	chr11:67055801-67058349	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
14	esv3335486	chr11:67055826-67058024	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67055600-67057800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:67055800-67057000	Transcr. at gene 5' and 3'	Right Atrium	heart
3	chr11:67055800-67057200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:67055800-67057200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:67055800-67057200	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr11:67055800-67057400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:67055800-67057400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:67055800-67057400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:67055800-67057400	Active TSS	Brain Substantia Nigra	brain
10	chr11:67055800-67057400	Active TSS	Colon Smooth Muscle	Colon
11	chr11:67055800-67057400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr11:67055800-67057400	Active TSS	Small Intestine	intestine
13	chr11:67055800-67057400	Active TSS	A549	lung
14	chr11:67055800-67057600	Active TSS	Fetal Kidney	kidney
15	chr11:67055800-67057800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:67055800-67057800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr11:67055800-67058000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:67055800-67058000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:67056000-67057200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:67056000-67057200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:67056000-67057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr11:67056000-67057200	Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr11:67056000-67057200	Active TSS	Primary B cells from peripheral blood	blood
24	chr11:67056000-67057200	Active TSS	Primary T cells from cord blood	blood
25	chr11:67056000-67057200	Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr11:67056000-67057200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:67056000-67057200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:67056000-67057200	Active TSS	Brain Germinal Matrix	brain
29	chr11:67056000-67057200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr11:67056000-67057200	Weak transcription	Fetal Heart	heart
31	chr11:67056000-67057200	Active TSS	Fetal Intestine Large	intestine
32	chr11:67056000-67057200	Active TSS	Fetal Muscle Leg	muscle
33	chr11:67056000-67057200	Active TSS	Gastric	stomach
34	chr11:67056000-67057200	Active TSS	Lung	lung
35	chr11:67056000-67057200	Active TSS	Psoas Muscle	Psoas
36	chr11:67056000-67057200	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr11:67056000-67057200	Active TSS	Right Ventricle	heart
38	chr11:67056000-67057200	Active TSS	Thymus	Thymus
39	chr11:67056000-67057200	Active TSS	Dnd41	blood
40	chr11:67056000-67057200	Active TSS	Hela-S3	cervix
41	chr11:67056000-67057200	Active TSS	K562	blood
42	chr11:67056000-67057400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr11:67056000-67057400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:67056000-67057400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:67056000-67057400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:67056000-67057400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr11:67056000-67057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:67056000-67057400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:67056000-67057400	Active TSS	Brain Angular Gyrus	brain
50	chr11:67056000-67057400	Active TSS	Brain Anterior Caudate	brain

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