Variant report

Variant	rs573831146
Chromosome Location	chr11:67250232-67250233
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	POLR2A	chr11:67250001-67250868	U87	brain:	n/a	n/a
2	MAX	chr11:67250209-67251217	ECC-1	luminal epithelium:	n/a	chr11:67250778-67250788
3	PBX3	chr11:67250126-67251098	SK-N-SH	brain:	n/a	chr11:67250941-67250961
4	RFX5	chr11:67250123-67250974	Hela-S3	cervix:	n/a	chr11:67250467-67250476
5	ELF1	chr11:67250088-67250926	A549	lung:	n/a	chr11:67250114-67250125 chr11:67250094-67250105
6	ELF1	chr11:67250179-67250912	A549	lung:	n/a	n/a
7	YY1	chr11:67250229-67251034	GM12878	blood:	n/a	chr11:67250514-67250533 chr11:67250509-67250531 chr11:67250910-67250919 chr11:67250520-67250528
8	MTA3	chr11:67249770-67250243	GM12878	blood:	n/a	n/a
9	ELF1	chr11:67249864-67251066	MCF-7	breast:	n/a	chr11:67250114-67250125 chr11:67250094-67250105
10	PML	chr11:67250175-67250890	MCF-7	breast:	n/a	n/a
11	POLR2A	chr11:67250103-67250919	Hela-S3	cervix:	n/a	n/a
12	TEAD4	chr11:67249906-67251113	K562	blood:	n/a	n/a
13	YY1	chr11:67250225-67250891	GM12891	blood:	n/a	chr11:67250514-67250533 chr11:67250509-67250531 chr11:67250520-67250528
14	CUX1	chr11:67249862-67250407	K562	blood:	n/a	chr11:67249998-67250007
15	POLR2A	chr11:67250055-67251082	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr11:67250104-67250902	GM12892	blood:	n/a	n/a
17	MAX	chr11:67250202-67251215	MCF-7	breast:	n/a	chr11:67250778-67250788
18	TCF12	chr11:67250082-67251117	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr11:67250102-67250794	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr11:67250103-67251020	MCF-7	breast:	n/a	n/a
21	STAT1	chr11:67250047-67251772	GM12878	blood:	n/a	n/a
22	EP300	chr11:67250002-67251160	K562	blood:	n/a	chr11:67250090-67250104 chr11:67250034-67250043 chr11:67250033-67250042
23	POLR2A	chr11:67249779-67251056	GM12878	blood:	n/a	n/a
24	ZNF143	chr11:67250157-67250983	GM12878	blood:	n/a	n/a
25	MYBL2	chr11:67250165-67251044	HepG2	liver:	n/a	n/a
26	HEY1	chr11:67250040-67251134	HepG2	liver:	n/a	n/a
27	RFX5	chr11:67250122-67250824	K562	blood:	n/a	chr11:67250467-67250476
28	YY1	chr11:67250210-67250758	K562	blood:	n/a	chr11:67250514-67250533 chr11:67250509-67250531 chr11:67250520-67250528
29	MTA3	chr11:67249673-67252980	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:67250200-67250854	HepG2	liver:	n/a	n/a
31	POLR2A	chr11:67250041-67250849	K562	blood:	n/a	n/a
32	POLR2A	chr11:67250132-67250904	GM18951	blood:	n/a	n/a
33	SPI1	chr11:67249678-67250475	GM12878	blood:	n/a	chr11:67250117-67250124 chr11:67250113-67250126 chr11:67250093-67250106 chr11:67250095-67250102
34	RELA	chr11:67249877-67251911	GM19193	blood:	n/a	n/a
35	POLR2A	chr11:67250137-67250953	GM12891	blood:	n/a	n/a
36	RELA	chr11:67249873-67251001	GM15510	blood:	n/a	n/a
37	YY1	chr11:67250137-67251004	GM12892	blood:	n/a	chr11:67250514-67250533 chr11:67250509-67250531 chr11:67250910-67250919 chr11:67250520-67250528
38	MAX	chr11:67250226-67251643	HepG2	liver:	n/a	chr11:67250778-67250788
39	TAF1	chr11:67250167-67250877	K562	blood:	n/a	n/a
40	POLR2A	chr11:67249945-67251169	SK-N-MC	brain:	n/a	n/a
41	NFIC	chr11:67249844-67250866	GM12878	blood:	n/a	n/a
42	NFYA	chr11:67250124-67251284	Hela-S3	cervix:	n/a	chr11:67250466-67250476
43	STAT5A	chr11:67249971-67250239	GM12878	blood:	n/a	chr11:67250033-67250042 chr11:67250034-67250043
44	POLR2A	chr11:67249956-67252944	GM12891	blood:	n/a	n/a
45	YY1	chr11:67250120-67251005	GM12878	blood:	n/a	chr11:67250514-67250533 chr11:67250509-67250531 chr11:67250910-67250919 chr11:67250520-67250528
46	PML	chr11:67250035-67250864	GM12878	blood:	n/a	n/a
47	POLR2A	chr11:67249953-67252925	Raji	blood:	n/a	n/a
48	SPI1	chr11:67249841-67250802	HL-60	blood:	n/a	chr11:67250117-67250124 chr11:67250113-67250126 chr11:67250093-67250106 chr11:67250095-67250102
49	TAF1	chr11:67250206-67250850	GM12878	blood:	n/a	n/a
50	MAX	chr11:67250123-67251067	SK-N-SH	brain:	n/a	chr11:67250778-67250788

No.	Distal block	Cell Line	Cell type
1	chr11:67119767..67122418-chr11:67248932..67250571,2	MCF-7	breast:
2	chr11:67078757..67080884-chr11:67248865..67250419,2	MCF-7	breast:
3	chr11:67249912..67253635-chr11:67270546..67273534,5	K562	blood:
4	chr11:67230145..67233819-chr11:67248914..67252066,4	K562	blood:
5	chr11:67250119..67250751-chr5:43483753..43484361,2	Hela-S3	cervix:
6	chr11:67158455..67160000-chr11:67249177..67251202,2	MCF-7	breast:
7	chr11:67248902..67250580-chr11:67397278..67399388,2	K562	blood:
8	chr11:67222200..67224356-chr11:67249381..67251101,2	MCF-7	breast:
9	chr11:67230622..67232854-chr11:67248914..67251189,3	MCF-7	breast:
10	chr11:67249113..67250802-chr11:67267518..67269287,2	MCF-7	breast:
11	chr11:67231198..67233116-chr11:67249356..67252066,3	K562	blood:
12	chr11:67138872..67142169-chr11:67249496..67254071,4	MCF-7	breast:
13	chr11:67205296..67207654-chr11:67248873..67250891,2	MCF-7	breast:
14	chr11:66108355..66110449-chr11:67247650..67250457,2	K562	blood:
15	chr11:67171679..67173695-chr11:67249098..67251684,2	MCF-7	breast:
16	chr11:67168541..67170644-chr11:67250058..67251865,2	MCF-7	breast:
17	chr11:67201373..67203481-chr11:67248801..67250929,2	MCF-7	breast:
18	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
19	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
20	chr11:67234942..67238660-chr11:67246245..67252394,7	MCF-7	breast:
21	chr11:67174480..67177168-chr11:67249396..67252040,3	MCF-7	breast:
22	chr11:67169616..67172754-chr11:67249059..67251001,3	MCF-7	breast:
23	chr11:67250117..67252279-chr11:67255664..67259072,3	MCF-7	breast:
24	chr11:67249840..67250624-chr21:40177263..40178201,2	Hela-S3	cervix:
25	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
26	chr11:67235776..67238484-chr11:67248509..67251813,3	K562	blood:
27	chr11:67249454..67253550-chr11:67271231..67274487,6	MCF-7	breast:

Variant related genes	Relation type
AIP	TF binding region
ENSG00000174744	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000249492	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000157557	Chromatin interaction
ENSG00000213402	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
3	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
4	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
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription 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	122 gene(s)	inside rSNPs	diseases
7	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
8	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
9	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
10	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription 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 miRNA target site	176 gene(s)	inside rSNPs	diseases
12	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription 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 miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
15	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
16	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
18	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
19	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
20	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
21	nsv983155	chr11:67220251-67251432	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
22	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
23	nsv825960	chr11:67238644-67250833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
24	nsv1067892	chr11:67249418-67255234	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67249200-67250800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:67249800-67250400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:67249800-67250600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:67249800-67250600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:67249800-67250600	Active TSS	Duodenum Mucosa	Duodenum
6	chr11:67249800-67250600	Active TSS	Placenta	Placenta
7	chr11:67249800-67250600	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr11:67249800-67250600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr11:67249800-67250600	Active TSS	GM12878-XiMat	blood
10	chr11:67249800-67250600	Active TSS	HMEC	breast
11	chr11:67249800-67250800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr11:67249800-67250800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:67249800-67250800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
14	chr11:67249800-67250800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:67249800-67250800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:67249800-67250800	Active TSS	Brain Hippocampus Middle	brain
17	chr11:67249800-67250800	Active TSS	Colonic Mucosa	Colon
18	chr11:67249800-67250800	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:67249800-67250800	Active TSS	Esophagus	oesophagus
20	chr11:67249800-67250800	Active TSS	Fetal Intestine Large	intestine
21	chr11:67249800-67250800	Active TSS	Fetal Intestine Small	intestine
22	chr11:67249800-67250800	Active TSS	Psoas Muscle	Psoas
23	chr11:67249800-67250800	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr11:67249800-67250800	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:67249800-67250800	Active TSS	Right Atrium	heart
26	chr11:67249800-67250800	Active TSS	NHDF-Ad	bronchial
27	chr11:67249800-67250800	Active TSS	NHEK	skin
28	chr11:67249800-67250800	Active TSS	NHLF	lung
29	chr11:67249800-67251000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:67249800-67251000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:67249800-67251000	Active TSS	Brain Anterior Caudate	brain
32	chr11:67249800-67251000	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr11:67249800-67251000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:67249800-67251000	Active TSS	Fetal Brain Female	brain
35	chr11:67249800-67251000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:67249800-67251200	Active TSS	Brain Germinal Matrix	brain
37	chr11:67249800-67251400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:67249800-67251400	Active TSS	A549	lung
39	chr11:67249800-67251400	Active TSS	HSMM	muscle
40	chr11:67249800-67251600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:67249800-67251600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr11:67250000-67250400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr11:67250000-67250600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:67250000-67250600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:67250000-67250600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:67250000-67250600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:67250000-67250600	Active TSS	Fetal Muscle Trunk	muscle
48	chr11:67250000-67250600	Active TSS	Placenta Amnion	Placenta Amnion
49	chr11:67250000-67250600	Active TSS	Stomach Mucosa	stomach
50	chr11:67250000-67250600	Active TSS	K562	blood

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