Variant report

Variant	rs559132135
Chromosome Location	chr11:67055858-67055859
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	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	JUND	chr11:67055778-67056145	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr11:67055589-67057726	MCF-7	breast:	n/a	n/a
7	MAX	chr11:67054376-67056926	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
8	RCOR1	chr11:67055686-67056666	GM12878	blood:	n/a	n/a
9	POU2F2	chr11:67055772-67056243	GM12878	blood:	n/a	n/a
10	EBF1	chr11:67055478-67056397	GM12878	blood:	n/a	chr11:67056217-67056228 chr11:67056216-67056229 chr11:67056218-67056228 chr11:67056218-67056227
11	MYC	chr11:67055633-67056540	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056470-67056480
12	PML	chr11:67055542-67056621	MCF-7	breast:	n/a	n/a
13	HDAC2	chr11:67055795-67056200	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:67054570-67056708	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr11:67055202-67057241	PFSK-1	brain:	n/a	n/a
16	FOXP2	chr11:67055604-67057223	PFSK-1	brain:	n/a	n/a
17	PML	chr11:67055458-67056537	GM12878	blood:	n/a	n/a
18	TEAD4	chr11:67055638-67056162	HepG2	liver:	n/a	n/a
19	PBX3	chr11:67055716-67056595	A549	lung:	n/a	n/a
20	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
21	GABPA	chr11:67055692-67056177	K562	blood:	n/a	chr11:67056119-67056133
22	GABPA	chr11:67055500-67056374	A549	lung:	n/a	chr11:67056119-67056133
23	MBD4	chr11:67055501-67056243	HepG2	liver:	n/a	n/a
24	ETS1	chr11:67055686-67056179	GM12878	blood:	n/a	chr11:67055795-67055809 chr11:67055796-67055807
25	POLR2A	chr11:67054373-67057033	GM12878	blood:	n/a	n/a
26	MAX	chr11:67055073-67057636	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
27	E2F6	chr11:67055756-67056607	H1-hESC	embryonic stem cell:	n/a	chr11:67056437-67056446 chr11:67056469-67056478
28	CEBPD	chr11:67055511-67057041	HepG2	liver:	n/a	n/a
29	HDAC2	chr11:67055630-67056591	MCF-7	breast:	n/a	chr11:67056419-67056438 chr11:67056436-67056445 chr11:67056438-67056447
30	CEBPB	chr11:67055789-67056181	HepG2	liver:	n/a	n/a
31	MXI1	chr11:67055725-67056703	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:67054758-67056683	U87	brain:	n/a	n/a
33	YY1	chr11:67055647-67056184	K562	blood:	n/a	chr11:67056167-67056181 chr11:67056168-67056182
34	ELF1	chr11:67055426-67057047	GM12878	blood:	n/a	chr11:67056493-67056506
35	TAF1	chr11:67055704-67056612	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr11:67054191-67056657	GM12891	blood:	n/a	n/a
37	TBP	chr11:67055831-67056686	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:67054024-67056735	GM12878	blood:	n/a	n/a
39	MYC	chr11:67054254-67057384	NB4	blood:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
40	ATF2	chr11:67055600-67056492	GM12878	blood:	n/a	n/a
41	RCOR1	chr11:67055814-67056634	K562	blood:	n/a	n/a
42	TAF1	chr11:67055727-67056650	A549	lung:	n/a	n/a
43	STAT3	chr11:67055774-67056139	MCF10A-Er-Src	breast:	n/a	chr11:67055846-67055858
44	BHLHE40	chr11:67055665-67056713	GM12878	blood:	n/a	chr11:67056547-67056563 chr11:67056531-67056547 chr11:67056111-67056127
45	SPI1	chr11:67055838-67056119	K562	blood:	n/a	chr11:67056007-67056014
46	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
47	POLR2A	chr11:67055426-67057534	MCF-7	breast:	n/a	n/a
48	MAX	chr11:67055654-67056613	HepG2	liver:	n/a	chr11:67055711-67055721 chr11:67056470-67056480
49	MYC	chr11:67055333-67056984	A549	lung:	n/a	chr11:67055711-67055721 chr11:67056690-67056699 chr11:67056470-67056480
50	POLR2A	chr11:67054037-67057093	PFSK-1	brain:	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	chr11:67054274..67056695-chr11:67119376..67121625,2	K562	blood:
4	chr11:67053008..67062318-chr11:67075341..67086484,24	K562	blood:
5	chr11:67055723..67056241-chr13:98628294..98628801,2	NB4	blood:
6	chr11:67054960..67058476-chr11:67120507..67123269,5	MCF-7	breast:
7	chr11:66821441..66825228-chr11:67054009..67057657,5	MCF-7	breast:
8	chr11:67055858..67057082-chr3:73160101..73160609,3	Hela-S3	cervix:
9	chr11:67055725..67056438-chr6:26199156..26199993,2	NB4	blood:
10	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
11	chr11:67054455..67063331-chr11:67064649..67075279,24	K562	blood:
12	chr11:67054211..67056226-chr11:67160780..67163309,2	MCF-7	breast:
13	chr11:67055526..67056164-chr3:52231773..52232652,2	NB4	blood:
14	chr11:66793222..66795910-chr11:67054347..67057344,2	MCF-7	breast:
15	chr11:67055669..67056641-chr17:72744389..72745314,2	NB4	blood:
16	chr11:67055136..67057390-chr11:67140087..67141656,2	MCF-7	breast:

Variant related genes	Relation type
ANKRD13D	TF binding region
ENSG00000253024	Chromatin interaction
ENSG00000023330	Chromatin interaction
ENSG00000264624	Chromatin interaction
ENSG00000184508	Chromatin interaction
ENSG00000109062	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000197846	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000065150	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000266036	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000173653	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	chr11:67050800-67056000	Weak transcription	Psoas Muscle	Psoas
2	chr11:67053400-67056000	Weak transcription	Ovary	ovary
3	chr11:67053600-67056000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr11:67053600-67056400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:67054400-67056000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:67054400-67056400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:67054400-67056400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr11:67054400-67056400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:67054600-67056000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr11:67054600-67056000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr11:67054600-67056000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr11:67054600-67056000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr11:67054600-67056000	Enhancers	Left Ventricle	heart
14	chr11:67054600-67056400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:67054800-67056000	Flanking Active TSS	Brain Anterior Caudate	brain
16	chr11:67054800-67056400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:67054800-67056400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:67055000-67056000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
19	chr11:67055000-67056000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:67055000-67056000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:67055000-67056000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr11:67055000-67056000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr11:67055000-67056000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr11:67055000-67056000	Flanking Active TSS	Rectal Smooth Muscle	rectum
25	chr11:67055000-67056000	Flanking Active TSS	HepG2	liver
26	chr11:67055000-67056400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr11:67055000-67056400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr11:67055200-67056000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:67055200-67056000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:67055200-67056000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr11:67055200-67056000	Flanking Active TSS	Thymus	Thymus
32	chr11:67055200-67056000	Flanking Active TSS	K562	blood
33	chr11:67055200-67056200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr11:67055200-67056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:67055200-67056400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:67055200-67056400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:67055400-67056000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr11:67055400-67056000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr11:67055400-67056000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:67055400-67056000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr11:67055400-67056000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:67055400-67056000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:67055400-67056000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:67055400-67056000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:67055400-67056000	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr11:67055400-67056000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:67055400-67056000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:67055400-67056000	Flanking Active TSS	Fetal Brain Female	brain
49	chr11:67055400-67056000	Enhancers	Gastric	stomach
50	chr11:67055400-67056000	Flanking Active TSS	GM12878-XiMat	blood

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