Variant report

Variant	rs11537751
Chromosome Location	chr11:47587452-47587453
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	POLR2A	chr11:47586822-47587508	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:47586762-47587624	K562	blood:	n/a	n/a
3	POLR2A	chr11:47586767-47587581	GM12892	blood:	n/a	n/a
4	HA-E2F1	chr11:47586643-47588077	MCF-7	breast:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
5	JUND	chr11:47586824-47587542	A549	lung:	n/a	n/a
6	CCNT2	chr11:47586875-47587565	K562	blood:	n/a	n/a
7	E2F6	chr11:47586646-47587763	Hela-S3	cervix:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
8	POLR2A	chr11:47586634-47587590	HUVEC	blood vessel:	n/a	n/a
9	ZBTB7A	chr11:47586525-47587753	K562	blood:	n/a	chr11:47587567-47587575
10	POLR2A	chr11:47586719-47587488	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:47586861-47587688	HCT-116	colon:	n/a	n/a
12	POLR2A	chr11:47586713-47587595	ProgFib	skin:	n/a	n/a
13	HA-E2F1	chr11:47586750-47587889	Hela-S3	cervix:	n/a	chr11:47586954-47586961 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586949-47586964 chr11:47587573-47587582
14	NR2F2	chr11:47586642-47588150	K562	blood:	n/a	n/a
15	CHD2	chr11:47586608-47587617	GM12878	blood:	n/a	n/a
16	YY1	chr11:47586799-47587474	K562	blood:	n/a	n/a
17	PML	chr11:47586739-47587512	GM12878	blood:	n/a	n/a
18	MXI1	chr11:47586366-47587741	IMR90	lung:	n/a	n/a
19	TAF1	chr11:47586775-47587781	HepG2	liver:	n/a	n/a
20	SIN3AK20	chr11:47586827-47587643	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:47586794-47587517	A549	lung:	n/a	n/a
22	POLR2A	chr11:47586746-47587506	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:47586873-47587681	MCF10A-Er-Src	breast:	n/a	n/a
24	RCOR1	chr11:47586923-47588028	Hela-S3	cervix:	n/a	n/a
25	YY1	chr11:47586868-47587551	GM12878	blood:	n/a	n/a
26	CTCF	chr11:47587360-47587510	GM12870	blood:	n/a	n/a
27	MAX	chr11:47586585-47587768	A549	lung:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
28	JUN	chr11:47586468-47588437	K562	blood:	n/a	chr11:47586780-47586791 chr11:47588291-47588305 chr11:47587572-47587581 chr11:47588137-47588149
29	YY1	chr11:47586911-47587621	ECC-1	luminal epithelium:	n/a	n/a
30	POLR2A	chr11:47586691-47587696	GM12878	blood:	n/a	n/a
31	ZBTB7A	chr11:47586534-47587833	ECC-1	luminal epithelium:	n/a	chr11:47587567-47587575
32	POLR2A	chr11:47586747-47587934	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr11:47586478-47587691	HepG2	liver:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
34	YY1	chr11:47586698-47587930	GM12892	blood:	n/a	n/a
35	TAF1	chr11:47586842-47587487	HepG2	liver:	n/a	n/a
36	POLR2A	chr11:47586746-47587828	HL-60	blood:	n/a	n/a
37	E2F6	chr11:47586525-47587695	A549	lung:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
38	YY1	chr11:47586840-47587554	HepG2	liver:	n/a	n/a
39	POLR2A	chr11:47586841-47587477	GM10847	blood:	n/a	n/a
40	FOXP2	chr11:47586916-47587648	PFSK-1	brain:	n/a	n/a
41	MAX	chr11:47586547-47587798	H1-hESC	embryonic stem cell:	n/a	chr11:47586731-47586741 chr11:47586872-47586882 chr11:47586839-47586849
42	TAF1	chr11:47586726-47587460	ECC-1	luminal epithelium:	n/a	n/a
43	SIN3AK20	chr11:47586735-47587473	SK-N-SH	brain:	n/a	n/a
44	MXI1	chr11:47586309-47588022	SK-N-SH	brain:	n/a	n/a
45	YY1	chr11:47586871-47587546	A549	lung:	n/a	n/a
46	POLR2A	chr11:47586687-47587666	PBDE	blood:	n/a	n/a
47	POLR2A	chr11:47586693-47587955	MCF-7	breast:	n/a	n/a
48	E2F6	chr11:47586362-47587689	H1-hESC	embryonic stem cell:	n/a	chr11:47586954-47586961 chr11:47586698-47586706 chr11:47586953-47586965 chr11:47586953-47586962 chr11:47586954-47586961 chr11:47586954-47586961 chr11:47586697-47586707 chr11:47586952-47586963 chr11:47586949-47586964 chr11:47587573-47587582 chr11:47586698-47586705 chr11:47586698-47586706
49	SIN3AK20	chr11:47587004-47587531	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr11:47586749-47587626	GM19193	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47587410-47587460	H1-hESC	embryonic stem cell:	embryo
2	chr11:47587410-47587460	SK-N-MC	brain:	n/a
3	chr11:47587410-47587460	HCPEpiC	choroid plexus:	n/a
4	chr11:47587410-47587460	AG04450	lung:	fetal
5	chr11:47587410-47587460	AoSMC	blood vessel:	n/a
6	chr11:47587410-47587460	AG09319	gingival:	n/a
7	chr11:47587410-47587460	AG04449	skin:	fetal
8	chr11:47587410-47587460	U87	brain:	n/a
9	chr11:47587410-47587460	HepG2	liver:	n/a
10	chr11:47587410-47587460	NHBE	bronchial:	n/a
11	chr11:47587410-47587460	CMK	blood:	n/a
12	chr11:47587410-47587460	HAEpiC	amniotic membrane:	n/a
13	chr11:47587410-47587460	NB4	blood:	n/a
14	chr11:47587410-47587460	BE2_C	brain:	n/a
15	chr11:47587410-47587460	RPTEC	kidney:	n/a
16	chr11:47587410-47587460	HMEC	breast:	n/a
17	chr11:47587410-47587460	GM12878	blood:	n/a
18	chr11:47587410-47587460	MCF-7	breast:	n/a
19	chr11:47587410-47587460	T-47D	breast:	n/a
20	chr11:47587410-47587460	Caco-2	colon:	n/a
21	chr11:47587410-47587460	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:47587410-47587460	Jurkat	blood:	n/a
23	chr11:47587410-47587460	HEEpiC	esophagus:	n/a
24	chr11:47587410-47587460	HL-60	blood:	n/a
25	chr11:47587410-47587460	HUVEC	blood vessel:	n/a
26	chr11:47587410-47587460	NT2-D1	testis:	n/a
27	chr11:47587410-47587460	MCF10A-Er-Src	breast:	n/a
28	chr11:47587410-47587460	SAEC	small airway:	n/a
29	chr11:47587410-47587460	NH-A	brain:	n/a
30	chr11:47587410-47587460	SKMC	muscle:	n/a
31	chr11:47587410-47587460	HNPCEpiC	eye:	n/a
32	chr11:47587410-47587460	PFSK-1	brain:	n/a
33	chr11:47587410-47587460	HRPEpiC	eye:	n/a
34	chr11:47587410-47587460	HCM	heart:	n/a
35	chr11:47587410-47587460	AG09309	skin:	n/a
36	chr11:47587410-47587460	HCF	heart:	n/a
37	chr11:47587410-47587460	AG10803	skin:	n/a
38	chr11:47587410-47587460	GM12892	blood:	n/a
39	chr11:47587410-47587460	ovcar-3	ovarian:	n/a
40	chr11:47587410-47587460	GM12891	blood:	n/a
41	chr11:47587410-47587460	SK-N-SH	brain:	n/a
42	chr11:47587410-47587460	SK-N-SH_RA	brain:	n/a
43	chr11:47587410-47587460	HCT-116	colon:	n/a
44	chr11:47587410-47587460	ProgFib	skin:	n/a
45	chr11:47587410-47587460	HRE	kidney:	n/a
46	chr11:47587410-47587460	GM19239	blood:	n/a
47	chr11:47587410-47587460	IMR90	lung:	fetal
48	chr11:47587410-47587460	PANC-1	pancreas:	n/a
49	chr11:47587410-47587460	LNCaP	prostate:	n/a
50	chr11:47587410-47587460	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:47535507..47539459-chr11:47585714..47589149,4	MCF-7	breast:
2	chr11:47545148..47547980-chr11:47586701..47589133,2	MCF-7	breast:
3	chr11:47586403..47589804-chr11:47615450..47617603,3	MCF-7	breast:
4	chr11:47585806..47587545-chr6:74230961..74233222,2	K562	blood:
5	chr11:47571371..47576564-chr11:47585605..47588889,10	MCF-7	breast:
6	chr11:47587108..47587673-chr16:3156360..3157194,2	HCT-116	colon:
7	chr11:47586161..47588765-chr11:47660200..47662976,2	MCF-7	breast:
8	chr11:47416151..47418895-chr11:47586699..47588478,2	MCF-7	breast:
9	chr11:47515223..47517618-chr11:47586025..47588780,2	K562	blood:
10	chr11:47586971..47587653-chr8:141521446..141522059,2	HCT-116	colon:
11	chr11:47586895..47590126-chr11:47609798..47613644,4	MCF-7	breast:
12	chr11:47585423..47588969-chr11:47597747..47604797,13	K562	blood:
13	chr11:47571923..47578059-chr11:47583779..47591283,17	MCF-7	breast:
14	chr11:47578751..47581226-chr11:47586015..47587663,2	K562	blood:
15	chr11:47586839..47587661-chr11:64863640..64864615,2	Hela-S3	cervix:
16	chr11:47587234..47588763-chr11:47607056..47608888,2	MCF-7	breast:

Variant related genes	Relation type
CELF1	TF binding region
CELF1	CpG island
ENSG00000172247	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000196666	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000265559	Chromatin interaction
ENSG00000263011	Chromatin interaction
ENSG00000109919	Chromatin interaction
ENSG00000200376	Chromatin interaction
ENSG00000123444	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000255197	Chromatin interaction
ENSG00000270072	Chromatin interaction
ENSG00000104472	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11600974	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11601083	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11601200	1.00[AMR][1000 genomes]
rs11601934	0.91[AMR][1000 genomes]
rs11602333	0.91[AMR][1000 genomes]
rs11602837	1.00[AMR][1000 genomes]
rs11603587	0.91[AMR][1000 genomes]
rs11603911	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11604233	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11605061	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11607518	1.00[AMR][1000 genomes]
rs11607855	0.91[AMR][1000 genomes]
rs34603363	0.91[AMR][1000 genomes]
rs36016346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7945021	0.91[AMR][1000 genomes]
rs9089	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9666433	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv314	chr11:47561564-47606256	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv825872	chr11:47565425-47660330	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 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	chr11:47586200-47587600	Active TSS	Rectal Smooth Muscle	rectum
2	chr11:47586200-47588200	Active TSS	GM12878-XiMat	blood
3	chr11:47586200-47588400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:47586400-47587800	Active TSS	Psoas Muscle	Psoas
5	chr11:47586400-47588000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr11:47586400-47588000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:47586400-47588200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:47586400-47588200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:47586400-47588200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:47586400-47588200	Active TSS	HSMM	muscle
11	chr11:47586400-47588400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:47586400-47588400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr11:47586400-47588400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr11:47586400-47588400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:47586400-47588400	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:47586400-47588600	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr11:47586400-47588600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:47586400-47588600	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:47586400-47588600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:47586600-47587600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:47586600-47587600	Flanking Active TSS	Colonic Mucosa	Colon
22	chr11:47586600-47587600	Active TSS	Colon Smooth Muscle	Colon
23	chr11:47586600-47587600	Transcr. at gene 5' and 3'	Right Atrium	heart
24	chr11:47586600-47587800	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:47586600-47588000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr11:47586600-47588000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:47586600-47588000	Active TSS	Aorta	Aorta
28	chr11:47586600-47588000	Active TSS	Fetal Kidney	kidney
29	chr11:47586600-47588000	Active TSS	Lung	lung
30	chr11:47586600-47588000	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:47586600-47588000	Active TSS	Small Intestine	intestine
32	chr11:47586600-47588200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:47586600-47588200	Active TSS	Brain Hippocampus Middle	brain
34	chr11:47586600-47588400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:47586600-47588600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:47586800-47587600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
37	chr11:47586800-47587600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:47586800-47587600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:47586800-47587600	Active TSS	Brain Substantia Nigra	brain
40	chr11:47586800-47587600	Active TSS	Thymus	Thymus
41	chr11:47586800-47587800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:47586800-47587800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:47586800-47587800	Active TSS	Primary T cells from cord blood	blood
44	chr11:47586800-47587800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:47586800-47587800	Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr11:47586800-47587800	Active TSS	Liver	Liver
47	chr11:47586800-47587800	Active TSS	Brain Angular Gyrus	brain
48	chr11:47586800-47587800	Active TSS	Ovary	ovary
49	chr11:47586800-47587800	Active TSS	Pancreas	Pancrea
50	chr11:47586800-47587800	Active TSS	Stomach Mucosa	stomach

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