Variant report

Variant	rs71484443
Chromosome Location	chr11:57103350-57103351
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	MAFK	chr11:57103255-57103692	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr11:57103152-57103640	HCT-116	colon:	n/a	n/a
3	CTCF	chr11:57103320-57103470	GM12868	blood:	n/a	n/a
4	SP1	chr11:57103074-57103683	A549	lung:	n/a	chr11:57103275-57103284 chr11:57103598-57103608 chr11:57103277-57103291
5	EP300	chr11:57103304-57103621	GM12878	blood:	n/a	n/a
6	SIN3AK20	chr11:57103274-57103718	A549	lung:	n/a	n/a
7	TBL1XR1	chr11:57102824-57103622	GM12878	blood:	n/a	n/a
8	CTCF	chr11:57103300-57103546	GM12892	blood:	n/a	n/a
9	USF1	chr11:57103280-57103576	A549	lung:	n/a	n/a
10	POLR2A	chr11:57103275-57103603	GM12891	blood:	n/a	n/a
11	MXI1	chr11:57102811-57103560	HepG2	liver:	n/a	n/a
12	GABPA	chr11:57103246-57103491	HepG2	liver:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
13	ETS1	chr11:57103253-57103634	A549	lung:	n/a	chr11:57103263-57103274 chr11:57103338-57103347 chr11:57103338-57103347
14	GABPA	chr11:57102731-57103524	K562	blood:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
15	FOXA1	chr11:57103238-57103490	T-47D	breast:	n/a	n/a
16	FOXP2	chr11:57103059-57103493	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr11:57103084-57103647	K562	blood:	n/a	n/a
18	MXI1	chr11:57102787-57103525	K562	blood:	n/a	n/a
19	CREB1	chr11:57102562-57103714	HepG2	liver:	n/a	n/a
20	CTCF	chr11:57103291-57103751	K562	blood:	n/a	n/a
21	MXI1	chr11:57102626-57103845	GM12878	blood:	n/a	n/a
22	GABPA	chr11:57103083-57103656	MCF-7	breast:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
23	BCLAF1	chr11:57103120-57103707	GM12878	blood:	n/a	n/a
24	E2F6	chr11:57103060-57103612	A549	lung:	n/a	chr11:57103307-57103319 chr11:57103308-57103315 chr11:57103307-57103315 chr11:57103308-57103315 chr11:57103308-57103315 chr11:57103268-57103277
25	POLR2A	chr11:57101788-57103856	PFSK-1	brain:	n/a	n/a
26	ELK4	chr11:57103301-57103743	Hela-S3	cervix:	n/a	chr11:57103338-57103347 chr11:57103338-57103346
27	GABPA	chr11:57103054-57103744	HL-60	blood:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
28	MTA3	chr11:57103276-57104028	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:57102537-57103740	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr11:57103274-57103580	GM12878	blood:	n/a	chr11:57103322-57103336 chr11:57103311-57103325
31	RCOR1	chr11:57103255-57103620	GM12878	blood:	n/a	n/a
32	HA-E2F1	chr11:57103280-57103896	MCF-7	breast:	n/a	chr11:57103307-57103318 chr11:57103307-57103319 chr11:57103308-57103315 chr11:57103308-57103315 chr11:57103308-57103315
33	EGR1	chr11:57103284-57103551	GM12878	blood:	n/a	chr11:57103313-57103322
34	YY1	chr11:57103222-57103498	A549	lung:	n/a	chr11:57103322-57103336 chr11:57103311-57103325
35	CTCF	chr11:57103320-57103470	SAEC	small airway:	n/a	n/a
36	ELF1	chr11:57103151-57103482	K562	blood:	n/a	n/a
37	CTCF	chr11:57103340-57103490	GM12869	blood:	n/a	n/a
38	MYC	chr11:57103291-57103511	Hela-S3	cervix:	n/a	n/a
39	GABPA	chr11:57103129-57103654	SK-N-SH	brain:	n/a	chr11:57103313-57103322 chr11:57103270-57103279 chr11:57103268-57103277
40	POLR2A	chr11:57103263-57103702	HepG2	liver:	n/a	n/a
41	REST	chr11:57103277-57103555	A549	lung:	n/a	n/a
42	POLR2A	chr11:57103257-57103681	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:57102445-57104122	HL-60	blood:	n/a	n/a
44	EGR1	chr11:57103249-57103506	GM12878	blood:	n/a	chr11:57103313-57103322 chr11:57103260-57103273 chr11:57103263-57103276 chr11:57103267-57103277
45	JUND	chr11:57102954-57103496	H1-hESC	embryonic stem cell:	n/a	chr11:57103263-57103272
46	CBX3	chr11:57103230-57103562	K562	blood:	n/a	n/a
47	JUND	chr11:57102749-57103613	K562	blood:	n/a	chr11:57103263-57103272
48	POLR2A	chr11:57103134-57103624	PANC-1	pancreas:	n/a	n/a
49	MYC	chr11:57102897-57103487	H1-hESC	embryonic stem cell:	n/a	n/a
50	STAT5A	chr11:57103277-57103589	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57103334-57103384	ECC-1	luminal epithelium:	n/a
2	chr11:57103334-57103384	HEK293	kidney:	embryo
3	chr11:57103334-57103384	GM19239	blood:	n/a
4	chr11:57103334-57103384	BE2_C	brain:	n/a
5	chr11:57103334-57103384	Caco-2	colon:	n/a
6	chr11:57103334-57103384	RPTEC	kidney:	n/a
7	chr11:57103334-57103384	HRPEpiC	eye:	n/a
8	chr11:57103334-57103384	T-47D	breast:	n/a
9	chr11:57103334-57103384	ProgFib	skin:	n/a
10	chr11:57103334-57103384	HRCEpiC	kidney:	n/a
11	chr11:57103334-57103384	HCF	heart:	n/a
12	chr11:57103334-57103384	HNPCEpiC	eye:	n/a
13	chr11:57103334-57103384	LNCaP	prostate:	n/a
14	chr11:57103334-57103384	NH-A	brain:	n/a
15	chr11:57103334-57103384	PFSK-1	brain:	n/a
16	chr11:57103334-57103384	Hepatocyte	liver:	n/a
17	chr11:57103334-57103384	SAEC	small airway:	n/a
18	chr11:57103334-57103384	SK-N-SH	brain:	n/a
19	chr11:57103334-57103384	H1-hESC	embryonic stem cell:	embryo
20	chr11:57103334-57103384	NT2-D1	testis:	n/a
21	chr11:57103334-57103384	MCF10A-Er-Src	breast:	n/a
22	chr11:57103334-57103384	HepG2	liver:	n/a
23	chr11:57103334-57103384	HMEC	breast:	n/a
24	chr11:57103334-57103384	HCPEpiC	choroid plexus:	n/a
25	chr11:57103334-57103384	NHDF-neo	bronchial:	n/a
26	chr11:57103334-57103384	K562	blood:	n/a
27	chr11:57103334-57103384	SK-N-MC	brain:	n/a
28	chr11:57103334-57103384	MCF-7	breast:	n/a
29	chr11:57103334-57103384	IMR90	lung:	fetal
30	chr11:57103334-57103384	HCM	heart:	n/a
31	chr11:57103334-57103384	SKMC	muscle:	n/a
32	chr11:57103334-57103384	A549	lung:	n/a
33	chr11:57103334-57103384	HUVEC	blood vessel:	n/a
34	chr11:57103334-57103384	AG04450	lung:	fetal
35	chr11:57103334-57103384	HIPEpiC	eye:	n/a
36	chr11:57103334-57103384	HRE	kidney:	n/a
37	chr11:57103334-57103384	HAEpiC	amniotic membrane:	n/a
38	chr11:57103334-57103384	GM06990	blood:	n/a
39	chr11:57103334-57103384	NB4	blood:	n/a
40	chr11:57103334-57103384	HEEpiC	esophagus:	n/a
41	chr11:57103334-57103384	BJ	skin:	n/a
42	chr11:57103334-57103384	U87	brain:	n/a
43	chr11:57103334-57103384	AG09319	gingival:	n/a
44	chr11:57103334-57103384	ovcar-3	ovarian:	n/a
45	chr11:57103334-57103384	PANC-1	pancreas:	n/a
46	chr11:57103334-57103384	GM12892	blood:	n/a
47	chr11:57103334-57103384	GM12878	blood:	n/a
48	chr11:57103334-57103384	HL-60	blood:	n/a
49	chr11:57103334-57103384	GM12891	blood:	n/a
50	chr11:57103334-57103384	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:57101540..57104523-chr11:57435455..57437198,2	K562	blood:
2	chr11:57101959..57104495-chr11:57114498..57116967,2	K562	blood:
3	chr11:57102611..57104475-chr11:57280670..57283217,2	K562	blood:
4	chr11:57101355..57105024-chr11:57147650..57149782,3	K562	blood:
5	chr11:57103113..57103776-chr5:86563201..86564115,2	HCT-116	colon:
6	chr11:57089320..57089871-chr11:57103024..57103580,2	MCF-7	breast:

Variant related genes	Relation type
P2RX3	TF binding region
SSRP1	TF binding region
P2RX3	CpG island
SSRP1	CpG island
ENSG00000145715	Chromatin interaction
ENSG00000109991	Chromatin interaction
ENSG00000156575	Chromatin interaction
ENSG00000149115	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12787728	0.81[EUR][1000 genomes]
rs12798121	0.94[EUR][1000 genomes]
rs12799582	0.81[EUR][1000 genomes]
rs12800182	0.91[EUR][1000 genomes]
rs12801000	0.81[EUR][1000 genomes]
rs12802096	0.81[EUR][1000 genomes]
rs12804022	0.81[EUR][1000 genomes]
rs12807593	0.81[EUR][1000 genomes]
rs12808193	0.81[EUR][1000 genomes]
rs12808784	0.81[EUR][1000 genomes]
rs12808989	0.81[EUR][1000 genomes]
rs17151841	0.94[EUR][1000 genomes]
rs1939488	0.81[EUR][1000 genomes]
rs2230648	0.91[EUR][1000 genomes]
rs34014874	0.94[EUR][1000 genomes]
rs34069781	0.81[EUR][1000 genomes]
rs34076116	0.81[EUR][1000 genomes]
rs34085089	0.81[EUR][1000 genomes]
rs34177110	0.81[EUR][1000 genomes]
rs34505638	0.81[EUR][1000 genomes]
rs34555300	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34572680	0.84[EUR][1000 genomes]
rs34754262	0.94[EUR][1000 genomes]
rs34761603	0.84[EUR][1000 genomes]
rs34850337	0.81[EUR][1000 genomes]
rs35272228	0.81[EUR][1000 genomes]
rs35284031	0.94[EUR][1000 genomes]
rs35388927	0.81[EUR][1000 genomes]
rs35407832	0.94[EUR][1000 genomes]
rs35566323	0.84[EUR][1000 genomes]
rs35707583	0.94[EUR][1000 genomes]
rs35721601	0.81[EUR][1000 genomes]
rs35818468	0.94[EUR][1000 genomes]
rs35943801	0.87[EUR][1000 genomes]
rs35950335	0.81[EUR][1000 genomes]
rs35980006	0.81[EUR][1000 genomes]
rs35991636	0.81[EUR][1000 genomes]
rs36090449	0.81[EUR][1000 genomes]
rs6591419	0.81[EUR][1000 genomes]
rs71484433	0.81[EUR][1000 genomes]
rs71484434	0.81[EUR][1000 genomes]
rs71484435	0.81[EUR][1000 genomes]
rs71484436	0.81[EUR][1000 genomes]
rs71484440	0.81[EUR][1000 genomes]
rs71484441	0.81[EUR][1000 genomes]
rs71484444	0.94[EUR][1000 genomes]
rs71484445	0.87[EUR][1000 genomes]
rs71484446	0.87[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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	34 gene(s)	inside rSNPs	diseases
2	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
3	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv541048	chr11:57076815-57120781	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:57102000-57103800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:57102200-57103600	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:57102200-57103600	Active TSS	Lung	lung
4	chr11:57102400-57103600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:57102400-57103600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:57102400-57103600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:57102400-57103600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:57102400-57103600	Active TSS	Psoas Muscle	Psoas
9	chr11:57102400-57103600	Active TSS	GM12878-XiMat	blood
10	chr11:57102400-57103600	Active TSS	HSMM	muscle
11	chr11:57102400-57103800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:57102400-57103800	Active TSS	Esophagus	oesophagus
13	chr11:57102400-57103800	Active TSS	Gastric	stomach
14	chr11:57102400-57103800	Active TSS	NHDF-Ad	bronchial
15	chr11:57102600-57103400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr11:57102600-57103400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:57102600-57103400	Active TSS	Fetal Lung	lung
18	chr11:57102600-57103400	Active TSS	Hela-S3	cervix
19	chr11:57102600-57103600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:57102600-57103600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57102600-57103600	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:57102600-57103600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr11:57102600-57103600	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr11:57102600-57103600	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:57102600-57103600	Active TSS	Brain Angular Gyrus	brain
26	chr11:57102600-57103600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:57102600-57103600	Active TSS	Fetal Kidney	kidney
28	chr11:57102600-57103600	Active TSS	Fetal Stomach	stomach
29	chr11:57102600-57103600	Active TSS	Placenta Amnion	Placenta Amnion
30	chr11:57102600-57103600	Active TSS	HSMMtube	muscle
31	chr11:57102600-57103800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:57102600-57103800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:57102600-57103800	Active TSS	Aorta	Aorta
34	chr11:57102600-57103800	Active TSS	Brain Cingulate Gyrus	brain
35	chr11:57102600-57103800	Active TSS	Fetal Intestine Large	intestine
36	chr11:57102600-57103800	Active TSS	Ovary	ovary
37	chr11:57102600-57103800	Active TSS	Small Intestine	intestine
38	chr11:57102600-57104000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:57102600-57104000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:57102600-57104000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr11:57102600-57104000	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:57102800-57103400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:57102800-57103400	Active TSS	Stomach Smooth Muscle	stomach
44	chr11:57102800-57103400	Active TSS	HMEC	breast
45	chr11:57102800-57103400	Active TSS	HUVEC	blood vessel
46	chr11:57102800-57103600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr11:57102800-57103600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:57102800-57103600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:57102800-57103600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:57102800-57103600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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