Variant report

Variant	rs528599898
Chromosome Location	chr11:67056273-67056274
allele	C/T
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	BHLHE40	chr11:67055599-67056613	K562	blood:	n/a	chr11:67056547-67056563 chr11:67056531-67056547 chr11:67056111-67056127
2	CEBPB	chr11:67055273-67056639	HCT-116	colon:	n/a	n/a
3	POLR2A	chr11:67055368-67057200	HUVEC	blood vessel:	n/a	n/a
4	CEBPB	chr11:67055633-67056371	K562	blood:	n/a	n/a
5	SIN3AK20	chr11:67055589-67057726	MCF-7	breast:	n/a	n/a
6	MAX	chr11:67054376-67056926	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
7	RCOR1	chr11:67055686-67056666	GM12878	blood:	n/a	n/a
8	TAF1	chr11:67056218-67056624	H1-neurons	neurons:	n/a	n/a
9	EBF1	chr11:67055478-67056397	GM12878	blood:	n/a	chr11:67056217-67056228 chr11:67056216-67056229 chr11:67056218-67056228 chr11:67056218-67056227
10	MYC	chr11:67055633-67056540	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056470-67056480
11	PML	chr11:67055542-67056621	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:67054570-67056708	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr11:67055202-67057241	PFSK-1	brain:	n/a	n/a
14	FOXP2	chr11:67055604-67057223	PFSK-1	brain:	n/a	n/a
15	PML	chr11:67055458-67056537	GM12878	blood:	n/a	n/a
16	PBX3	chr11:67055716-67056595	A549	lung:	n/a	n/a
17	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
18	ZBTB7A	chr11:67056272-67057010	K562	blood:	n/a	n/a
19	GABPA	chr11:67055500-67056374	A549	lung:	n/a	chr11:67056119-67056133
20	POLR2A	chr11:67054373-67057033	GM12878	blood:	n/a	n/a
21	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
22	E2F6	chr11:67055756-67056607	H1-hESC	embryonic stem cell:	n/a	chr11:67056437-67056446 chr11:67056469-67056478
23	CEBPD	chr11:67055511-67057041	HepG2	liver:	n/a	n/a
24	HDAC2	chr11:67055630-67056591	MCF-7	breast:	n/a	chr11:67056419-67056438 chr11:67056436-67056445 chr11:67056438-67056447
25	NRF1	chr11:67056206-67056769	GM12878	blood:	n/a	chr11:67056436-67056445 chr11:67056435-67056446 chr11:67056551-67056560 chr11:67056436-67056447 chr11:67056433-67056447
26	MXI1	chr11:67055725-67056703	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:67054758-67056683	U87	brain:	n/a	n/a
28	ELF1	chr11:67055426-67057047	GM12878	blood:	n/a	chr11:67056493-67056506
29	TAF1	chr11:67055704-67056612	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr11:67054191-67056657	GM12891	blood:	n/a	n/a
31	TBP	chr11:67055831-67056686	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr11:67056217-67056515	GM12892	blood:	n/a	n/a
33	POLR2A	chr11:67054024-67056735	GM12878	blood:	n/a	n/a
34	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
35	ATF2	chr11:67055600-67056492	GM12878	blood:	n/a	n/a
36	RCOR1	chr11:67055814-67056634	K562	blood:	n/a	n/a
37	TAF1	chr11:67055727-67056650	A549	lung:	n/a	n/a
38	BHLHE40	chr11:67055665-67056713	GM12878	blood:	n/a	chr11:67056547-67056563 chr11:67056531-67056547 chr11:67056111-67056127
39	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
40	POLR2A	chr11:67055426-67057534	MCF-7	breast:	n/a	n/a
41	POU2F2	chr11:67056253-67056533	GM12878	blood:	n/a	n/a
42	MAX	chr11:67055654-67056613	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056470-67056480
43	MYC	chr11:67055333-67056984	A549	lung:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
44	POLR2A	chr11:67054037-67057093	PFSK-1	brain:	n/a	n/a
45	FOSL2	chr11:67055492-67056639	HepG2	liver:	n/a	n/a
46	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
47	ELF1	chr11:67056230-67056739	K562	blood:	n/a	chr11:67056493-67056506
48	HCFC1	chr11:67055314-67057493	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:67054389-67057085	Hela-S3	cervix:	n/a	n/a
50	SPI1	chr11:67055575-67056710	HL-60	blood:	n/a	chr11:67055725-67055738 chr11:67056490-67056497 chr11:67056465-67056478 chr11:67056007-67056014

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67056238-67056288	NH-A	brain:	n/a
2	chr11:67056238-67056288	IMR90	lung:	fetal
3	chr11:67056238-67056288	HepG2	liver:	n/a
4	chr11:67056238-67056288	AG09319	gingival:	n/a
5	chr11:67056238-67056288	SK-N-MC	brain:	n/a
6	chr11:67056238-67056288	GM06990	blood:	n/a
7	chr11:67056238-67056288	LNCaP	prostate:	n/a
8	chr11:67056238-67056288	HRPEpiC	eye:	n/a
9	chr11:67056238-67056288	ovcar-3	ovarian:	n/a
10	chr11:67056238-67056288	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:67056238-67056288	NHBE	bronchial:	n/a
12	chr11:67056238-67056288	ProgFib	skin:	n/a
13	chr11:67056238-67056288	CMK	blood:	n/a
14	chr11:67056238-67056288	SK-N-SH	brain:	n/a
15	chr11:67056238-67056288	SAEC	small airway:	n/a
16	chr11:67056238-67056288	GM12891	blood:	n/a
17	chr11:67056238-67056288	Caco-2	colon:	n/a
18	chr11:67056238-67056288	GM19239	blood:	n/a
19	chr11:67056238-67056288	HCT-116	colon:	n/a
20	chr11:67056238-67056288	AoSMC	blood vessel:	n/a
21	chr11:67056238-67056288	NHDF-neo	bronchial:	n/a
22	chr11:67056238-67056288	SK-N-SH_RA	brain:	n/a
23	chr11:67056238-67056288	HEK293	kidney:	embryo
24	chr11:67056238-67056288	Hela-S3	cervix:	n/a
25	chr11:67056238-67056288	PANC-1	pancreas:	n/a
26	chr11:67056238-67056288	H1-hESC	embryonic stem cell:	embryo
27	chr11:67056238-67056288	GM12892	blood:	n/a
28	chr11:67056238-67056288	BJ	skin:	n/a
29	chr11:67056238-67056288	RPTEC	kidney:	n/a
30	chr11:67056238-67056288	A549	lung:	n/a
31	chr11:67056238-67056288	HIPEpiC	eye:	n/a
32	chr11:67056238-67056288	HL-60	blood:	n/a
33	chr11:67056238-67056288	SKMC	muscle:	n/a
34	chr11:67056238-67056288	T-47D	breast:	n/a
35	chr11:67056238-67056288	BE2_C	brain:	n/a
36	chr11:67056238-67056288	GM12878	blood:	n/a
37	chr11:67056238-67056288	AG10803	skin:	n/a
38	chr11:67056238-67056288	NT2-D1	testis:	n/a
39	chr11:67056238-67056288	HEEpiC	esophagus:	n/a
40	chr11:67056238-67056288	PFSK-1	brain:	n/a
41	chr11:67056238-67056288	HCPEpiC	choroid plexus:	n/a
42	chr11:67056238-67056288	MCF10A-Er-Src	breast:	n/a
43	chr11:67056238-67056288	Jurkat	blood:	n/a
44	chr11:67056238-67056288	MCF-7	breast:	n/a
45	chr11:67056238-67056288	AG04450	lung:	fetal
46	chr11:67056238-67056288	HAEpiC	amniotic membrane:	n/a
47	chr11:67056238-67056288	HUVEC	blood vessel:	n/a
48	chr11:67056238-67056288	HRE	kidney:	n/a
49	chr11:67056238-67056288	ECC-1	luminal epithelium:	n/a
50	chr11:67056238-67056288	HRCEpiC	kidney:	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	chr11:67055725..67056438-chr6:26199156..26199993,2	NB4	blood:
13	chr11:67055923..67056800-chr15:90744214..90744805,2	NB4	blood:
14	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
15	chr11:67056267..67057775-chr15:68549196..68551810,2	MCF-7	breast:
16	chr11:67056152..67057908-chr11:67157420..67159394,2	MCF-7	breast:
17	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
18	chr11:67033837..67034854-chr11:67056054..67056870,3	MCF-7	breast:
19	chr11:66793222..66795910-chr11:67054347..67057344,2	MCF-7	breast:
20	chr11:67055669..67056641-chr17:72744389..72745314,2	NB4	blood:
21	chr11:67055136..67057390-chr11:67140087..67141656,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD13D	TF binding region
ANKRD13D	CpG island
ENSG00000184508	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000266036	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000264624	Chromatin interaction
ENSG00000109062	Chromatin interaction
ENSG00000128973	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000185033	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000173020	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	chr11:67053600-67056400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:67054400-67056400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:67054400-67056400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr11:67054400-67056400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:67054600-67056400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:67054800-67056400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:67054800-67056400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr11:67055000-67056400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr11:67055000-67056400	Flanking Active TSS	Colonic Mucosa	Colon
10	chr11:67055200-67056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:67055200-67056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:67055200-67056400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:67055400-67056400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:67055600-67056400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr11:67055600-67056400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:67055600-67056400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr11:67055600-67056400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:67055600-67056400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:67055600-67056400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr11:67055600-67056400	Flanking Active TSS	Fetal Muscle Trunk	muscle
21	chr11:67055600-67056400	Flanking Active TSS	HUVEC	blood vessel
22	chr11:67055600-67057800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:67055800-67056400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr11:67055800-67056400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:67055800-67056400	Flanking Active TSS	Spleen	Spleen
26	chr11:67055800-67057000	Transcr. at gene 5' and 3'	Right Atrium	heart
27	chr11:67055800-67057200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:67055800-67057200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:67055800-67057200	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr11:67055800-67057400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:67055800-67057400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:67055800-67057400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:67055800-67057400	Active TSS	Brain Substantia Nigra	brain
34	chr11:67055800-67057400	Active TSS	Colon Smooth Muscle	Colon
35	chr11:67055800-67057400	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr11:67055800-67057400	Active TSS	Small Intestine	intestine
37	chr11:67055800-67057400	Active TSS	A549	lung
38	chr11:67055800-67057600	Active TSS	Fetal Kidney	kidney
39	chr11:67055800-67057800	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:67055800-67057800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:67055800-67058000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:67055800-67058000	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr11:67056000-67056400	Active TSS	Fetal Lung	lung
44	chr11:67056000-67056600	Enhancers	Fetal Brain Male	brain
45	chr11:67056000-67056600	Active TSS	Stomach Mucosa	stomach
46	chr11:67056000-67057200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:67056000-67057200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:67056000-67057200	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr11:67056000-67057200	Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr11:67056000-67057200	Active TSS	Primary B cells from peripheral blood	blood

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