Variant report

Variant	rs73426477
Chromosome Location	chr11:18720947-18720948
allele	G/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	TBL1XR1	chr11:18720794-18720954	K562	blood:	n/a	n/a
2	ZBTB7A	chr11:18720415-18721007	ECC-1	luminal epithelium:	n/a	chr11:18720645-18720654
3	MAZ	chr11:18719626-18720965	IMR90	lung:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720279-18720288 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
4	EGR1	chr11:18720629-18720958	H1-hESC	embryonic stem cell:	n/a	chr11:18720787-18720801 chr11:18720813-18720823 chr11:18720789-18720799 chr11:18720788-18720799 chr11:18720810-18720823 chr11:18720789-18720799 chr11:18720806-18720828 chr11:18720787-18720800 chr11:18720815-18720825 chr11:18720645-18720658
5	TAF1	chr11:18720133-18720956	H1-hESC	embryonic stem cell:	n/a	n/a
6	EGR1	chr11:18720587-18721021	H1-hESC	embryonic stem cell:	n/a	chr11:18720787-18720801 chr11:18720813-18720823 chr11:18720789-18720799 chr11:18720788-18720799 chr11:18720810-18720823 chr11:18720610-18720620 chr11:18720789-18720799 chr11:18720806-18720828 chr11:18720787-18720800 chr11:18720815-18720825 chr11:18720645-18720658
7	NR2F2	chr11:18720620-18721022	K562	blood:	n/a	n/a
8	REST	chr11:18719664-18721106	H1-neurons	neurons:	n/a	chr11:18720524-18720537 chr11:18720524-18720537
9	MXI1	chr11:18719632-18721487	SK-N-SH	brain:	n/a	chr11:18720684-18720693
10	POLR2A	chr11:18720702-18721030	K562	blood:	n/a	n/a
11	MAX	chr11:18719896-18720949	HepG2	liver:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720279-18720288 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
12	CREB1	chr11:18720049-18720958	H1-hESC	embryonic stem cell:	n/a	chr11:18720272-18720285
13	EGR1	chr11:18720623-18720961	K562	blood:	n/a	chr11:18720787-18720801 chr11:18720813-18720823 chr11:18720789-18720799 chr11:18720788-18720799 chr11:18720810-18720823 chr11:18720789-18720799 chr11:18720806-18720828 chr11:18720787-18720800 chr11:18720815-18720825 chr11:18720645-18720658
14	MAX	chr11:18719790-18721019	A549	lung:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720279-18720288 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
15	USF1	chr11:18720506-18720947	ECC-1	luminal epithelium:	n/a	chr11:18720682-18720693
16	USF1	chr11:18720443-18721005	HCT-116	colon:	n/a	chr11:18720682-18720693
17	RCOR1	chr11:18719760-18720979	K562	blood:	n/a	n/a
18	CREB1	chr11:18720557-18721030	H1-hESC	embryonic stem cell:	n/a	n/a
19	ZBTB7A	chr11:18720393-18721154	ECC-1	luminal epithelium:	n/a	chr11:18720645-18720654
20	SIN3A	chr11:18719947-18721153	H1-hESC	embryonic stem cell:	n/a	chr11:18720684-18720693 chr11:18720594-18720603 chr11:18720682-18720691
21	HCFC1	chr11:18720799-18720985	K562	blood:	n/a	n/a
22	TBP	chr11:18719997-18720969	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:18719969-18721109	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr11:18720013-18720953	K562	blood:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720279-18720288 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
25	MAZ	chr11:18719771-18720966	K562	blood:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720279-18720288 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
26	JUN	chr11:18719445-18721473	K562	blood:	n/a	chr11:18720274-18720283 chr11:18719917-18719925 chr11:18720589-18720598 chr11:18720551-18720560
27	MAX	chr11:18719940-18720957	ECC-1	luminal epithelium:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720279-18720288 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
28	POLR2A	chr11:18720770-18721026	H1-hESC	embryonic stem cell:	n/a	n/a
29	EGR1	chr11:18720583-18720952	K562	blood:	n/a	chr11:18720787-18720801 chr11:18720813-18720823 chr11:18720789-18720799 chr11:18720788-18720799 chr11:18720810-18720823 chr11:18720610-18720620 chr11:18720789-18720799 chr11:18720806-18720828 chr11:18720787-18720800 chr11:18720815-18720825 chr11:18720645-18720658
30	MAX	chr11:18720585-18720962	ECC-1	luminal epithelium:	n/a	chr11:18720683-18720692 chr11:18720681-18720694 chr11:18720678-18720697 chr11:18720682-18720693 chr11:18720810-18720819 chr11:18720813-18720823 chr11:18720683-18720692 chr11:18720681-18720694
31	ZNF143	chr11:18720694-18720968	H1-hESC	embryonic stem cell:	n/a	chr11:18720746-18720764 chr11:18720820-18720835

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:18720931-18720981	U87	brain:	n/a
2	chr11:18720931-18720981	ECC-1	luminal epithelium:	n/a
3	chr11:18720931-18720981	HNPCEpiC	eye:	n/a
4	chr11:18720931-18720981	MCF10A-Er-Src	breast:	n/a
5	chr11:18720931-18720981	AG04449	skin:	fetal
6	chr11:18720931-18720981	HEK293	kidney:	embryo
7	chr11:18720931-18720981	PrEC	prostate:	n/a
8	chr11:18720931-18720981	HRCEpiC	kidney:	n/a
9	chr11:18720931-18720981	NHDF-neo	bronchial:	n/a
10	chr11:18720931-18720981	K562	blood:	n/a
11	chr11:18720931-18720981	AG09309	skin:	n/a
12	chr11:18720931-18720981	HMEC	breast:	n/a
13	chr11:18720931-18720981	NH-A	brain:	n/a
14	chr11:18720931-18720981	SAEC	small airway:	n/a
15	chr11:18720931-18720981	RPTEC	kidney:	n/a
16	chr11:18720931-18720981	HepG2	liver:	n/a
17	chr11:18720931-18720981	NB4	blood:	n/a
18	chr11:18720931-18720981	GM12892	blood:	n/a
19	chr11:18720931-18720981	HPAEpiC	pulmonary alveolar:	n/a
20	chr11:18720931-18720981	AG09319	gingival:	n/a
21	chr11:18720931-18720981	HCF	heart:	n/a
22	chr11:18720931-18720981	GM19239	blood:	n/a
23	chr11:18720931-18720981	SKMC	muscle:	n/a
24	chr11:18720931-18720981	AoSMC	blood vessel:	n/a
25	chr11:18720931-18720981	AG10803	skin:	n/a
26	chr11:18720931-18720981	IMR90	lung:	fetal
27	chr11:18720931-18720981	Jurkat	blood:	n/a
28	chr11:18720931-18720981	AG04450	lung:	fetal
29	chr11:18720931-18720981	NHBE	bronchial:	n/a
30	chr11:18720931-18720981	HUVEC	blood vessel:	n/a
31	chr11:18720931-18720981	LNCaP	prostate:	n/a
32	chr11:18720931-18720981	NT2-D1	testis:	n/a
33	chr11:18720931-18720981	GM06990	blood:	n/a
34	chr11:18720931-18720981	SK-N-SH_RA	brain:	n/a
35	chr11:18720931-18720981	SK-N-SH	brain:	n/a
36	chr11:18720931-18720981	MCF-7	breast:	n/a
37	chr11:18720931-18720981	HIPEpiC	eye:	n/a
38	chr11:18720931-18720981	Caco-2	colon:	n/a
39	chr11:18720931-18720981	A549	lung:	n/a
40	chr11:18720931-18720981	HEEpiC	esophagus:	n/a
41	chr11:18720931-18720981	HAEpiC	amniotic membrane:	n/a
42	chr11:18720931-18720981	HRE	kidney:	n/a
43	chr11:18720931-18720981	SK-N-MC	brain:	n/a
44	chr11:18720931-18720981	HCPEpiC	choroid plexus:	n/a
45	chr11:18720931-18720981	HCT-116	colon:	n/a
46	chr11:18720931-18720981	BJ	skin:	n/a
47	chr11:18720931-18720981	GM12891	blood:	n/a
48	chr11:18720931-18720981	T-47D	breast:	n/a
49	chr11:18720931-18720981	BE2_C	brain:	n/a
50	chr11:18720931-18720981	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:18712732..18716294-chr11:18718075..18720979,3	MCF-7	breast:
2	chr11:18719268..18720951-chr11:18721936..18724231,2	MCF-7	breast:
3	chr11:18655737..18658361-chr11:18720798..18722992,3	MCF-7	breast:

Variant related genes	Relation type
TMEM86A	TF binding region
TMEM86A	CpG island
ENSG00000151117	Chromatin interaction
ENSG00000179119	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16935626	0.85[AMR][1000 genomes]
rs58088308	0.85[AMR][1000 genomes]
rs58298594	0.83[AMR][1000 genomes]
rs59616087	0.85[AMR][1000 genomes]
rs59965930	1.00[AMR][1000 genomes]
rs60701947	1.00[AMR][1000 genomes]
rs7116232	1.00[AMR][1000 genomes]
rs7118958	1.00[AMR][1000 genomes]
rs73426408	1.00[AMR][1000 genomes]
rs73426427	0.85[AMR][1000 genomes]
rs73426461	0.85[AMR][1000 genomes]
rs7926101	1.00[AMR][1000 genomes]
rs7930849	0.85[AMR][1000 genomes]
rs7947182	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic 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	144 gene(s)	inside rSNPs	diseases
2	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv983163	chr11:18702181-18736146	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv897028	chr11:18714623-18770822	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18719200-18722200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:18719600-18721000	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr11:18719600-18721000	Active TSS	Brain Cingulate Gyrus	brain
4	chr11:18719600-18721000	Active TSS	Brain Substantia Nigra	brain
5	chr11:18719600-18721200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:18719600-18721200	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:18719600-18721200	Active TSS	Brain Anterior Caudate	brain
8	chr11:18719600-18721200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:18719800-18721000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:18719800-18721000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:18719800-18721000	Active TSS	Muscle Satellite Cultured Cells	--
12	chr11:18719800-18721000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:18719800-18721000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:18719800-18721000	Active TSS	Aorta	Aorta
15	chr11:18719800-18721000	Active TSS	Gastric	stomach
16	chr11:18719800-18721000	Active TSS	Left Ventricle	heart
17	chr11:18719800-18721000	Active TSS	Lung	lung
18	chr11:18719800-18721200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:18719800-18721200	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:18719800-18721200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:18719800-18721200	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:18719800-18721200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:18719800-18721400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:18719800-18721400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr11:18719800-18721600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr11:18719800-18721800	Active TSS	Esophagus	oesophagus
27	chr11:18720000-18721000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:18720000-18721000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr11:18720000-18721000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:18720000-18721000	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:18720000-18721000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:18720000-18721000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:18720000-18721000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:18720000-18721000	Active TSS	Brain Hippocampus Middle	brain
35	chr11:18720000-18721000	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:18720000-18721000	Active TSS	Colon Smooth Muscle	Colon
37	chr11:18720000-18721000	Active TSS	Right Atrium	heart
38	chr11:18720000-18721000	Active TSS	Spleen	Spleen
39	chr11:18720000-18721000	Active TSS	HSMMtube	muscle
40	chr11:18720000-18721000	Active TSS	NHDF-Ad	bronchial
41	chr11:18720000-18721200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:18720000-18721200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:18720000-18721200	Active TSS	Hela-S3	cervix
44	chr11:18720000-18721400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:18720000-18721400	Active TSS	Fetal Kidney	kidney
46	chr11:18720000-18721600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:18720000-18721800	Active TSS	Ovary	ovary
48	chr11:18720200-18721000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:18720200-18721000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:18720200-18721000	Active TSS	Pancreas	Pancrea

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