Variant report

Variant	rs7105207
Chromosome Location	chr11:3819419-3819420
allele	A/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	ZNF143	chr11:3818613-3819536	GM12878	blood:	n/a	n/a
2	MTA3	chr11:3819041-3819697	GM12878	blood:	n/a	n/a
3	MYBL2	chr11:3818230-3819610	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:3818986-3819542	K562	blood:	n/a	n/a
5	E2F6	chr11:3819086-3819600	A549	lung:	n/a	chr11:3819284-3819295
6	STAT5A	chr11:3818998-3819587	GM12878	blood:	n/a	n/a
7	SIN3A	chr11:3818217-3819590	GM12878	blood:	n/a	chr11:3818294-3818307
8	CEBPB	chr11:3818678-3819711	K562	blood:	n/a	n/a
9	CBX3	chr11:3819014-3819434	K562	blood:	n/a	n/a
10	TAF1	chr11:3818561-3819450	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr11:3818697-3819452	GM12878	blood:	n/a	n/a
12	MAX	chr11:3818411-3819535	K562	blood:	n/a	n/a
13	CREB1	chr11:3818451-3819478	ECC-1	luminal epithelium:	n/a	chr11:3819035-3819048
14	USF2	chr11:3818751-3819464	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:3818447-3819472	A549	lung:	n/a	n/a
16	STAT5A	chr11:3818782-3819510	K562	blood:	n/a	n/a
17	MXI1	chr11:3818067-3819491	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:3818354-3819532	Hela-S3	cervix:	n/a	n/a
19	YY1	chr11:3818423-3819482	GM12878	blood:	n/a	chr11:3819010-3819019
20	MAX	chr11:3817996-3819760	A549	lung:	n/a	chr11:3819536-3819543 chr11:3818088-3818103 chr11:3818092-3818099 chr11:3818091-3818102 chr11:3818091-3818100
21	CREB1	chr11:3818153-3819629	GM12878	blood:	n/a	chr11:3819035-3819048
22	TAF1	chr11:3819052-3819586	A549	lung:	n/a	n/a
23	BRCA1	chr11:3818693-3819462	GM12878	blood:	n/a	n/a
24	YY1	chr11:3819062-3819502	H1-hESC	embryonic stem cell:	n/a	n/a
25	SPI1	chr11:3818413-3819573	HL-60	blood:	n/a	chr11:3818645-3818654 chr11:3818483-3818496 chr11:3818643-3818656 chr11:3818642-3818655
26	HEY1	chr11:3818462-3819516	HepG2	liver:	n/a	chr11:3819036-3819045 chr11:3819038-3819047
27	BRCA1	chr11:3818468-3819528	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:3818510-3819513	K562	blood:	n/a	n/a
29	MAX	chr11:3818744-3819515	HUVEC	blood vessel:	n/a	n/a
30	TCF7L2	chr11:3818358-3819553	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:3818584-3819539	HCT-116	colon:	n/a	n/a
32	ELF1	chr11:3818611-3819503	SK-N-SH	brain:	n/a	chr11:3819010-3819019 chr11:3818643-3818654
33	MAX	chr11:3818379-3819674	H1-hESC	embryonic stem cell:	n/a	chr11:3819536-3819543
34	POLR2A	chr11:3818251-3819498	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr11:3817503-3819606	PFSK-1	brain:	n/a	n/a
36	HA-E2F1	chr11:3818474-3819420	Hela-S3	cervix:	n/a	chr11:3819036-3819045 chr11:3819038-3819047
37	TCF12	chr11:3818420-3819636	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr11:3816051-3819517	IMR90	lung:	n/a	n/a
39	CREB1	chr11:3818240-3819592	A549	lung:	n/a	chr11:3819035-3819048
40	RELA	chr11:3818360-3819458	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:3816253-3820653	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:3818111-3819568	GM12892	blood:	n/a	n/a
43	RUNX3	chr11:3818119-3819567	GM12878	blood:	n/a	n/a
44	MYC	chr11:3817909-3819623	K562	blood:	n/a	chr11:3819536-3819543 chr11:3818088-3818103 chr11:3818092-3818099 chr11:3818091-3818102 chr11:3818091-3818100
45	MYC	chr11:3818240-3819601	K562	blood:	n/a	chr11:3819536-3819543
46	BHLHE40	chr11:3818580-3819523	GM12878	blood:	n/a	n/a
47	FOS	chr11:3818753-3819573	MCF10A-Er-Src	breast:	n/a	chr11:3819037-3819046
48	USF1	chr11:3819051-3819441	SK-N-SH_RA	brain:	n/a	n/a
49	SP1	chr11:3818280-3819608	HCT-116	colon:	n/a	chr11:3818999-3819008 chr11:3818821-3818833 chr11:3818999-3819013 chr11:3818998-3819010 chr11:3818998-3819010 chr11:3818998-3819009
50	GTF2F1	chr11:3818631-3819570	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:3663179..3665930-chr11:3817516..3820122,2	K562	blood:
2	chr11:3816139..3821205-chr11:3826361..3831544,11	MCF-7	breast:
3	chr11:3816760..3821195-chr11:3827310..3829330,5	K562	blood:
4	chr11:3818014..3819859-chr11:3826407..3829369,2	MCF-7	breast:
5	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
6	chr11:3817048..3820526-chr11:3859691..3864703,8	K562	blood:
7	chr11:3819152..3819665-chr21:35013711..35014247,2	NB4	blood:

Variant related genes	Relation type
NUP98	TF binding region
ENSG00000167311	Chromatin interaction
ENSG00000205758	Chromatin interaction
ENSG00000177105	Chromatin interaction
ENSG00000148985	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs12269960	1.00[ASN][1000 genomes]
rs12271649	1.00[ASN][1000 genomes]
rs12277623	1.00[ASN][1000 genomes]
rs12277783	1.00[ASN][1000 genomes]
rs12282367	1.00[ASN][1000 genomes]
rs12284297	1.00[ASN][1000 genomes]
rs12285688	1.00[ASN][1000 genomes]
rs12293671	1.00[ASN][1000 genomes]
rs12295219	1.00[ASN][1000 genomes]
rs16925377	1.00[ASN][1000 genomes]
rs16929762	1.00[ASN][1000 genomes]
rs16929785	1.00[ASN][1000 genomes]
rs2231546	1.00[ASN][1000 genomes]
rs2231547	1.00[ASN][1000 genomes]
rs35404087	1.00[ASN][1000 genomes]
rs35803045	1.00[ASN][1000 genomes]
rs4910530	1.00[ASN][1000 genomes]
rs4910565	1.00[ASN][1000 genomes]
rs4910639	1.00[ASN][1000 genomes]
rs4910654	1.00[ASN][1000 genomes]
rs4910665	1.00[ASN][1000 genomes]
rs4910695	1.00[ASN][1000 genomes]
rs4910711	1.00[ASN][1000 genomes]
rs4910712	1.00[ASN][1000 genomes]
rs4910797	1.00[ASN][1000 genomes]
rs4910798	1.00[ASN][1000 genomes]
rs4910799	1.00[ASN][1000 genomes]
rs4910800	1.00[ASN][1000 genomes]
rs4910805	1.00[ASN][1000 genomes]
rs4910806	1.00[ASN][1000 genomes]
rs4910808	1.00[ASN][1000 genomes]
rs4910810	1.00[ASN][1000 genomes]
rs4910811	1.00[ASN][1000 genomes]
rs4910814	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798582	1.00[ASN][1000 genomes]
rs56702085	1.00[ASN][1000 genomes]
rs60726516	1.00[ASN][1000 genomes]
rs61508984	1.00[ASN][1000 genomes]
rs61751339	1.00[ASN][1000 genomes]
rs61877577	1.00[ASN][1000 genomes]
rs61877578	1.00[ASN][1000 genomes]
rs61877579	1.00[ASN][1000 genomes]
rs61877580	1.00[ASN][1000 genomes]
rs61877581	1.00[ASN][1000 genomes]
rs61877582	1.00[ASN][1000 genomes]
rs61877583	1.00[ASN][1000 genomes]
rs61877584	1.00[ASN][1000 genomes]
rs61877592	1.00[ASN][1000 genomes]
rs61877594	1.00[ASN][1000 genomes]
rs61877598	1.00[ASN][1000 genomes]
rs61878509	1.00[ASN][1000 genomes]
rs61878531	1.00[ASN][1000 genomes]
rs61878539	1.00[ASN][1000 genomes]
rs61878540	1.00[ASN][1000 genomes]
rs61878542	1.00[ASN][1000 genomes]
rs61878543	1.00[ASN][1000 genomes]
rs61878551	1.00[ASN][1000 genomes]
rs61878553	1.00[ASN][1000 genomes]
rs61878554	1.00[ASN][1000 genomes]
rs61878555	1.00[ASN][1000 genomes]
rs61878556	1.00[ASN][1000 genomes]
rs61879789	1.00[ASN][1000 genomes]
rs61879790	1.00[ASN][1000 genomes]
rs61879791	1.00[ASN][1000 genomes]
rs61879792	1.00[ASN][1000 genomes]
rs61879795	1.00[ASN][1000 genomes]
rs61879797	1.00[ASN][1000 genomes]
rs61879798	1.00[ASN][1000 genomes]
rs61879799	1.00[ASN][1000 genomes]
rs61879800	1.00[ASN][1000 genomes]
rs61879801	1.00[ASN][1000 genomes]
rs61879830	1.00[ASN][1000 genomes]
rs61879831	1.00[ASN][1000 genomes]
rs61879832	1.00[ASN][1000 genomes]
rs61879982	1.00[ASN][1000 genomes]
rs61879984	1.00[ASN][1000 genomes]
rs61896917	1.00[ASN][1000 genomes]
rs61896918	1.00[ASN][1000 genomes]
rs61896919	1.00[ASN][1000 genomes]
rs61896920	1.00[ASN][1000 genomes]
rs61896921	1.00[ASN][1000 genomes]
rs61896922	1.00[ASN][1000 genomes]
rs61896923	1.00[ASN][1000 genomes]
rs61896925	1.00[ASN][1000 genomes]
rs61896927	0.96[AFR][1000 genomes]
rs61896928	0.92[AFR][1000 genomes]
rs61998205	1.00[ASN][1000 genomes]
rs7111156	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118870	1.00[ASN][1000 genomes]
rs7122294	1.00[ASN][1000 genomes]
rs72844330	1.00[ASN][1000 genomes]
rs72844332	1.00[ASN][1000 genomes]
rs72844335	1.00[ASN][1000 genomes]
rs72844387	1.00[ASN][1000 genomes]
rs72844389	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049560	chr11:3678259-3980746	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv540907	chr11:3678259-3980746	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1052744	chr11:3739162-4017601	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv1047025	chr11:3750969-4017601	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1803195	chr11:3806490-3924156	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1046065	chr11:3808818-4049150	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv540909	chr11:3808818-4049150	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv1038220	chr11:3818041-3860024	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr11:3816200-3819800	Active TSS	GM12878-XiMat	blood
2	chr11:3816600-3819600	Active TSS	Psoas Muscle	Psoas
3	chr11:3816600-3819600	Active TSS	Right Atrium	heart
4	chr11:3817000-3819600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:3817000-3819600	Active TSS	Ovary	ovary
6	chr11:3817000-3819800	Active TSS	HSMM	muscle
7	chr11:3817200-3819600	Active TSS	Aorta	Aorta
8	chr11:3817200-3819600	Active TSS	Left Ventricle	heart
9	chr11:3817200-3819800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:3817200-3819800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:3817200-3819800	Active TSS	A549	lung
12	chr11:3817400-3819600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:3817400-3819600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:3817400-3819800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:3817400-3819800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:3817600-3819600	Active TSS	Gastric	stomach
17	chr11:3817600-3819600	Active TSS	Lung	lung
18	chr11:3817600-3819800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:3817600-3819800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:3817600-3819800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:3817600-3819800	Active TSS	Esophagus	oesophagus
22	chr11:3817800-3819600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:3817800-3819600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:3817800-3819800	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr11:3817800-3819800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr11:3817800-3819800	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:3817800-3819800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:3818000-3819600	Active TSS	Colon Smooth Muscle	Colon
29	chr11:3818000-3819600	Active TSS	Duodenum Mucosa	Duodenum
30	chr11:3818000-3819600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr11:3818000-3819600	Active TSS	Small Intestine	intestine
32	chr11:3818000-3819800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:3818000-3819800	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:3818000-3819800	Active TSS	Brain Hippocampus Middle	brain
35	chr11:3818000-3819800	Active TSS	Colonic Mucosa	Colon
36	chr11:3818000-3819800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr11:3818000-3819800	Active TSS	Fetal Brain Female	brain
38	chr11:3818000-3819800	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:3818200-3819600	Active TSS	Brain Angular Gyrus	brain
40	chr11:3818200-3819600	Active TSS	Thymus	Thymus
41	chr11:3818200-3819800	Active TSS	Liver	Liver
42	chr11:3818200-3819800	Active TSS	Brain Anterior Caudate	brain
43	chr11:3818400-3819600	Active TSS	Brain Cingulate Gyrus	brain
44	chr11:3818400-3819600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr11:3818400-3819800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:3818400-3819800	Active TSS	Brain Germinal Matrix	brain
47	chr11:3818600-3819800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:3818800-3829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:3819200-3819600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:3819200-3819600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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