Variant report

Variant	rs142815613
Chromosome Location	chr11:67035021-67035022
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	MYBL2	chr11:67034705-67035368	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:67034689-67036529	GM12892	blood:	n/a	n/a
3	MXI1	chr11:67033336-67035801	IMR90	lung:	n/a	n/a
4	FOXM1	chr11:67034690-67036217	GM12878	blood:	n/a	n/a
5	EP300	chr11:67034861-67035316	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67034726-67037261	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:67033803-67036298	GM18505	blood:	n/a	n/a
8	UBTF	chr11:67035019-67035162	K562	blood:	n/a	n/a
9	MAX	chr11:67034726-67035177	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:67033491-67035804	K562	blood:	n/a	n/a
11	RELA	chr11:67034757-67035334	GM10847	blood:	n/a	n/a
12	TBP	chr11:67034988-67036219	GM12878	blood:	n/a	n/a
13	ZEB1	chr11:67034877-67035693	GM12878	blood:	n/a	chr11:67035268-67035277
14	POLR2A	chr11:67033773-67040167	NB4	blood:	n/a	n/a
15	ELF1	chr11:67034709-67035054	K562	blood:	n/a	n/a
16	MAX	chr11:67034446-67035378	K562	blood:	n/a	n/a
17	NFIC	chr11:67034881-67036388	GM12878	blood:	n/a	n/a
18	CHD1	chr11:67034638-67036458	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:67034677-67035547	HepG2	liver:	n/a	n/a
20	MXI1	chr11:67034071-67035185	SK-N-SH	brain:	n/a	n/a
21	YY1	chr11:67033570-67035049	K562	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
22	STAT5A	chr11:67035007-67036269	GM12878	blood:	n/a	chr11:67035955-67035963
23	POU2F2	chr11:67034644-67035154	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:67034704-67036295	GM12891	blood:	n/a	n/a
25	EBF1	chr11:67034840-67036192	GM12878	blood:	n/a	n/a
26	MTA3	chr11:67034476-67036629	GM12878	blood:	n/a	n/a
27	POLR2A	chr11:67034606-67035118	MCF-7	breast:	n/a	n/a
28	ELF1	chr11:67034536-67036181	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:67034869-67036207	GM18951	blood:	n/a	n/a
30	CHD2	chr11:67034785-67036182	GM12878	blood:	n/a	n/a
31	HNF4G	chr11:67035005-67035283	HepG2	liver:	n/a	chr11:67035124-67035139
32	PAX5	chr11:67034870-67035223	GM12878	blood:	n/a	n/a
33	IKZF1	chr11:67035000-67035426	GM12878	blood:	n/a	n/a
34	YY1	chr11:67034938-67035245	HepG2	liver:	n/a	n/a
35	STAT5A	chr11:67034406-67037282	GM12878	blood:	n/a	chr11:67035955-67035963
36	CTCF	chr11:67034880-67035030	HRE	kidney:	n/a	n/a
37	POLR2A	chr11:67034482-67038045	GM12892	blood:	n/a	n/a
38	TBP	chr11:67034978-67035304	HepG2	liver:	n/a	n/a
39	YY1	chr11:67033582-67035268	GM12892	blood:	n/a	chr11:67034158-67034167 chr11:67034166-67034178 chr11:67034018-67034032 chr11:67034153-67034167 chr11:67034150-67034164 chr11:67033951-67033962
40	POLR2A	chr11:67034922-67036229	GM19193	blood:	n/a	n/a
41	JUND	chr11:67034863-67035038	K562	blood:	n/a	n/a
42	TCF3	chr11:67034855-67035505	GM12878	blood:	n/a	chr11:67035067-67035076
43	MAX	chr11:67034816-67036503	NB4	blood:	n/a	n/a
44	RUNX3	chr11:67034743-67036352	GM12878	blood:	n/a	n/a
45	ZEB1	chr11:67034375-67035628	HepG2	liver:	n/a	chr11:67035268-67035277
46	EBF1	chr11:67034988-67036269	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:67034945-67036197	GM12878	blood:	n/a	n/a
48	POLR2A	chr11:67034850-67035238	HepG2	liver:	n/a	n/a
49	HNF4A	chr11:67034952-67035278	HepG2	liver:	n/a	chr11:67035125-67035140
50	POLR2A	chr11:67034868-67035273	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67034337..67035118-chr11:67055575..67056376,2	NB4	blood:
2	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
3	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
4	chr11:66833065..66835047-chr11:67034731..67036548,2	MCF-7	breast:
5	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
6	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
7	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
8	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
9	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:
10	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
11	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172613	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3419864	chr11:67031976-67036274	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	esv3376740	chr11:67033176-67035299	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 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	chr11:67033400-67035400	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:67033600-67035200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr11:67033600-67035200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67033600-67035200	Active TSS	HSMMtube	muscle
5	chr11:67033600-67035400	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr11:67033600-67035600	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:67033600-67035600	Active TSS	Primary T cells from cord blood	blood
8	chr11:67033600-67035800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:67033800-67035200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:67033800-67035200	Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr11:67033800-67035200	Active TSS	Fetal Intestine Large	intestine
12	chr11:67033800-67035200	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr11:67033800-67035200	Active TSS	GM12878-XiMat	blood
14	chr11:67033800-67035400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:67033800-67035400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:67033800-67036000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:67034000-67035200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:67034000-67035200	Active TSS	Esophagus	oesophagus
19	chr11:67034000-67035200	Active TSS	Lung	lung
20	chr11:67034000-67035600	Active TSS	Small Intestine	intestine
21	chr11:67034200-67035200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:67034400-67035200	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr11:67034400-67035200	Active TSS	Stomach Mucosa	stomach
24	chr11:67034400-67035400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:67034400-67035600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
26	chr11:67034400-67036400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:67034400-67036400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr11:67034400-67039200	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr11:67034400-67041400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr11:67034600-67035200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:67034600-67035200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:67034600-67035200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:67034600-67035200	Flanking Active TSS	Fetal Brain Female	brain
34	chr11:67034600-67035200	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr11:67034600-67035400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:67034600-67035400	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr11:67034600-67035400	Flanking Active TSS	Pancreas	Pancrea
38	chr11:67034600-67035400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
39	chr11:67034600-67035400	Flanking Active TSS	Psoas Muscle	Psoas
40	chr11:67034600-67035600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:67034600-67035600	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr11:67034600-67035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:67034600-67035800	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr11:67034600-67035800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:67034600-67036000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
46	chr11:67034600-67036400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:67034600-67036800	Flanking Active TSS	Liver	Liver
48	chr11:67034600-67039400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:67034600-67040800	Transcr. at gene 5' and 3'	Dnd41	blood
50	chr11:67034600-67041400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood

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