Variant report

Variant	rs4753126
Chromosome Location	chr11:93862020-93862021
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	chr11:93861625-93864191	MCF10A-Er-Src	breast:	n/a	n/a
2	PBX3	chr11:93861683-93862296	SK-N-SH	brain:	n/a	n/a
3	MTA3	chr11:93861371-93863143	GM12878	blood:	n/a	n/a
4	TAF1	chr11:93861400-93862281	GM12878	blood:	n/a	n/a
5	MXI1	chr11:93861877-93862659	K562	blood:	n/a	n/a
6	TFAP2C	chr11:93861441-93862600	Hela-S3	cervix:	n/a	n/a
7	MAX	chr11:93861307-93862918	HepG2	liver:	n/a	n/a
8	JUN	chr11:93861697-93862111	K562	blood:	n/a	chr11:93861963-93861972
9	POLR2A	chr11:93861494-93862817	HUVEC	blood vessel:	n/a	n/a
10	YY1	chr11:93861566-93862681	GM12892	blood:	n/a	chr11:93862074-93862088 chr11:93862071-93862082 chr11:93862382-93862396 chr11:93862276-93862290 chr11:93862095-93862104
11	POLR2A	chr11:93861723-93862325	K562	blood:	n/a	n/a
12	E2F6	chr11:93861805-93862781	K562	blood:	n/a	chr11:93862095-93862104 chr11:93862160-93862172
13	TBP	chr11:93861564-93862933	K562	blood:	n/a	n/a
14	HMGN3	chr11:93861739-93862848	K562	blood:	n/a	n/a
15	EP300	chr11:93861614-93862508	K562	blood:	n/a	chr11:93862097-93862113 chr11:93862073-93862082
16	BRCA1	chr11:93861661-93862075	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr11:93861404-93862489	K562	blood:	n/a	n/a
18	JUND	chr11:93861801-93862297	A549	lung:	n/a	chr11:93861963-93861972
19	POLR2A	chr11:93861401-93863038	GM12878	blood:	n/a	n/a
20	GABPA	chr11:93861907-93862116	GM12878	blood:	n/a	n/a
21	YY1	chr11:93861860-93862135	A549	lung:	n/a	chr11:93862074-93862088 chr11:93862071-93862082 chr11:93862095-93862104
22	TCF12	chr11:93861661-93862842	ECC-1	luminal epithelium:	n/a	chr11:93862042-93862052 chr11:93862821-93862828 chr11:93862046-93862053
23	BCL3	chr11:93861678-93862220	A549	lung:	n/a	chr11:93861906-93861915 chr11:93862074-93862087 chr11:93862098-93862107
24	PML	chr11:93861624-93862664	K562	blood:	n/a	n/a
25	NFIC	chr11:93861453-93862667	GM12878	blood:	n/a	n/a
26	ZBTB7A	chr11:93861831-93862028	HepG2	liver:	n/a	n/a
27	ELK1	chr11:93861515-93862249	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:93861468-93862926	GM12878	blood:	n/a	n/a
29	RELA	chr11:93861368-93863161	GM15510	blood:	n/a	n/a
30	MAX	chr11:93861363-93862927	A549	lung:	n/a	n/a
31	MAX	chr11:93861377-93862948	HepG2	liver:	n/a	n/a
32	TCF7L2	chr11:93861703-93862050	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:93861535-93862856	K562	blood:	n/a	n/a
34	RUNX3	chr11:93861323-93862950	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:93861541-93862443	NB4	blood:	n/a	n/a
36	IRF1	chr11:93861568-93863007	K562	blood:	n/a	chr11:93861768-93861782 chr11:93862369-93862383 chr11:93862369-93862386 chr11:93862371-93862388 chr11:93862372-93862383 chr11:93862104-93862118 chr11:93862371-93862383 chr11:93862370-93862383 chr11:93862364-93862384 chr11:93862372-93862382 chr11:93862368-93862382 chr11:93862370-93862383 chr11:93862370-93862383
37	ZBTB7A	chr11:93861567-93862251	K562	blood:	n/a	chr11:93861650-93861659
38	GTF2F1	chr11:93861278-93862234	H1-hESC	embryonic stem cell:	n/a	n/a
39	SIN3AK20	chr11:93861619-93862048	PFSK-1	brain:	n/a	n/a
40	TBL1XR1	chr11:93861515-93862057	K562	blood:	n/a	n/a
41	CTCF	chr11:93861965-93862151	K562	blood:	n/a	n/a
42	NANOG	chr11:93861810-93862199	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr11:93861692-93862229	H1-hESC	embryonic stem cell:	n/a	n/a
44	TBP	chr11:93861635-93862071	Hela-S3	cervix:	n/a	n/a
45	BCLAF1	chr11:93861670-93862633	GM12878	blood:	n/a	chr11:93861906-93861915 chr11:93862277-93862286 chr11:93862074-93862087 chr11:93862098-93862107
46	CREB1	chr11:93861701-93862243	A549	lung:	n/a	n/a
47	FOXA2	chr11:93861654-93862246	A549	lung:	n/a	n/a
48	POLR2A	chr11:93861323-93863125	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:93861786-93862285	HepG2	liver:	n/a	n/a
50	EP300	chr11:93861719-93862213	HepG2	liver:	n/a	chr11:93862097-93862113 chr11:93862073-93862082

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:93861987-93862037	MCF10A-Er-Src	breast:	n/a
2	chr11:93861987-93862037	HCM	heart:	n/a
3	chr11:93861987-93862037	SK-N-MC	brain:	n/a
4	chr11:93861987-93862037	HepG2	liver:	n/a
5	chr11:93861987-93862037	ECC-1	luminal epithelium:	n/a
6	chr11:93861987-93862037	HCPEpiC	choroid plexus:	n/a
7	chr11:93861987-93862037	SAEC	small airway:	n/a
8	chr11:93861987-93862037	GM12891	blood:	n/a
9	chr11:93861987-93862037	BE2_C	brain:	n/a
10	chr11:93861987-93862037	HRE	kidney:	n/a
11	chr11:93861987-93862037	NT2-D1	testis:	n/a
12	chr11:93861987-93862037	AG09319	gingival:	n/a
13	chr11:93861987-93862037	GM12892	blood:	n/a
14	chr11:93861987-93862037	HRPEpiC	eye:	n/a
15	chr11:93861987-93862037	AG04449	skin:	fetal
16	chr11:93861987-93862037	K562	blood:	n/a
17	chr11:93861987-93862037	Caco-2	colon:	n/a
18	chr11:93861987-93862037	PrEC	prostate:	n/a
19	chr11:93861987-93862037	NHBE	bronchial:	n/a
20	chr11:93861987-93862037	MCF-7	breast:	n/a
21	chr11:93861987-93862037	RPTEC	kidney:	n/a
22	chr11:93861987-93862037	AoSMC	blood vessel:	n/a
23	chr11:93861987-93862037	ovcar-3	ovarian:	n/a
24	chr11:93861987-93862037	AG09309	skin:	n/a
25	chr11:93861987-93862037	HIPEpiC	eye:	n/a
26	chr11:93861987-93862037	HNPCEpiC	eye:	n/a
27	chr11:93861987-93862037	HCT-116	colon:	n/a
28	chr11:93861987-93862037	SK-N-SH_RA	brain:	n/a
29	chr11:93861987-93862037	U87	brain:	n/a
30	chr11:93861987-93862037	PFSK-1	brain:	n/a
31	chr11:93861987-93862037	PANC-1	pancreas:	n/a
32	chr11:93861987-93862037	T-47D	breast:	n/a
33	chr11:93861987-93862037	HMEC	breast:	n/a
34	chr11:93861987-93862037	HPAEpiC	pulmonary alveolar:	n/a
35	chr11:93861987-93862037	H1-hESC	embryonic stem cell:	embryo
36	chr11:93861987-93862037	SK-N-SH	brain:	n/a
37	chr11:93861987-93862037	BJ	skin:	n/a
38	chr11:93861987-93862037	Jurkat	blood:	n/a
39	chr11:93861987-93862037	HL-60	blood:	n/a
40	chr11:93861987-93862037	IMR90	lung:	fetal
41	chr11:93861987-93862037	GM12878	blood:	n/a
42	chr11:93861987-93862037	Hepatocyte	liver:	n/a
43	chr11:93861987-93862037	LNCaP	prostate:	n/a
44	chr11:93861987-93862037	AG04450	lung:	fetal
45	chr11:93861987-93862037	HEEpiC	esophagus:	n/a
46	chr11:93861987-93862037	A549	lung:	n/a
47	chr11:93861987-93862037	HCF	heart:	n/a
48	chr11:93861987-93862037	GM06990	blood:	n/a
49	chr11:93861987-93862037	NHDF-neo	bronchial:	n/a
50	chr11:93861987-93862037	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93861851..93862593-chr17:41463845..41464835,2	Hela-S3	cervix:
2	chr11:93861478..93862275-chr16:56642270..56643142,2	Hela-S3	cervix:
3	chr11:93860234..93863458-chr11:94225545..94228425,3	K562	blood:
4	chr11:93724420..93726827-chr11:93860849..93862959,2	MCF-7	breast:
5	chr11:93861273..93862040-chr8:141473868..141474564,2	Hela-S3	cervix:
6	chr1:151964881..151965549-chr11:93861551..93862232,2	Hela-S3	cervix:

Variant related genes	Relation type
PANX1	TF binding region
PANX1	CpG island
ENSG00000255995	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000125148	Chromatin interaction
ENSG00000020922	Chromatin interaction
ENSG00000168876	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1356565	0.81[ASN][1000 genomes]
rs1401186	0.81[ASN][1000 genomes]
rs2945640	0.80[ASN][1000 genomes]
rs2945641	0.81[ASN][1000 genomes]
rs2949861	0.81[ASN][1000 genomes]
rs2949862	0.80[ASN][1000 genomes]
rs4073612	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4073613	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4753542	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7116300	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898183	chr11:93725384-93906735	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv898184	chr11:93741612-93969726	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1046092	chr11:93833446-93964452	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv523082	chr11:93834223-93866147	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508651	chr11:93834300-93880470	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898185	chr11:93851048-93927529	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	esv989619	chr11:93861937-93872912	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 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	chr11:93860800-93862400	Active TSS	Fetal Brain Female	brain
2	chr11:93860800-93863200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:93861000-93862800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:93861000-93863200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:93861000-93863200	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr11:93861000-93863200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:93861000-93863400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:93861000-93863600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:93861000-93863600	Active TSS	A549	lung
10	chr11:93861200-93862600	Active TSS	Thymus	Thymus
11	chr11:93861200-93862800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:93861200-93863000	Active TSS	Right Atrium	heart
13	chr11:93861200-93863200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:93861200-93863200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr11:93861200-93863200	Active TSS	Ovary	ovary
16	chr11:93861200-93863200	Active TSS	Right Ventricle	heart
17	chr11:93861200-93863200	Active TSS	NHDF-Ad	bronchial
18	chr11:93861200-93863600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:93861200-93863600	Active TSS	Placenta Amnion	Placenta Amnion
20	chr11:93861200-93863600	Active TSS	Psoas Muscle	Psoas
21	chr11:93861200-93864400	Active TSS	Aorta	Aorta
22	chr11:93861400-93862600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:93861400-93862600	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:93861400-93862600	Active TSS	Spleen	Spleen
25	chr11:93861400-93862800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:93861400-93862800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:93861400-93862800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:93861400-93862800	Active TSS	Brain Anterior Caudate	brain
29	chr11:93861400-93862800	Active TSS	Brain Substantia Nigra	brain
30	chr11:93861400-93862800	Active TSS	Fetal Intestine Large	intestine
31	chr11:93861400-93862800	Active TSS	Fetal Lung	lung
32	chr11:93861400-93863000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:93861400-93863000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:93861400-93863000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:93861400-93863000	Active TSS	Fetal Kidney	kidney
36	chr11:93861400-93863000	Active TSS	Rectal Smooth Muscle	rectum
37	chr11:93861400-93863000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr11:93861400-93863000	Active TSS	Small Intestine	intestine
39	chr11:93861400-93863200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:93861400-93863200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:93861400-93863200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:93861400-93863200	Active TSS	Gastric	stomach
43	chr11:93861400-93863400	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr11:93861400-93863400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:93861400-93863400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:93861400-93863400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:93861400-93863600	Active TSS	HSMM	muscle
48	chr11:93861400-93863800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:93861400-93863800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:93861400-93863800	Active TSS	iPS-15b Cell Line	embryonic stem cell

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