Variant report

Variant	rs11032346
Chromosome Location	chr11:33722458-33722459
allele	C/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	ELK1	chr11:33722383-33722771	Hela-S3	cervix:	n/a	n/a
2	NFATC1	chr11:33722089-33723072	GM12878	blood:	n/a	n/a
3	ARID3A	chr11:33722267-33722977	HepG2	liver:	n/a	n/a
4	REST	chr11:33722455-33722766	HepG2	liver:	n/a	chr11:33722634-33722647 chr11:33722491-33722501
5	POLR2A	chr11:33721866-33724317	U87	brain:	n/a	n/a
6	JUND	chr11:33722178-33722833	K562	blood:	n/a	n/a
7	STAT3	chr11:33722140-33724183	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
8	MAX	chr11:33722033-33724028	A549	lung:	n/a	chr11:33722471-33722481
9	EGR1	chr11:33721895-33722725	K562	blood:	n/a	chr11:33722472-33722482 chr11:33722302-33722313 chr11:33722471-33722481 chr11:33722301-33722315 chr11:33722303-33722313 chr11:33722302-33722316 chr11:33722303-33722313 chr11:33722302-33722313 chr11:33722301-33722314
10	HMGN3	chr11:33722104-33722628	K562	blood:	n/a	n/a
11	POLR2A	chr11:33721366-33723085	H1-neurons	neurons:	n/a	n/a
12	ZKSCAN1	chr11:33722228-33722832	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:33722448-33722729	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr11:33721876-33723426	H1-neurons	neurons:	n/a	chr11:33722634-33722647 chr11:33722491-33722501 chr11:33722757-33722770
15	POLR2A	chr11:33722077-33723793	U87	brain:	n/a	n/a
16	MAZ	chr11:33722120-33722674	GM12878	blood:	n/a	chr11:33722471-33722481
17	TAF1	chr11:33722378-33722807	H1-hESC	embryonic stem cell:	n/a	n/a
18	RUNX3	chr11:33722092-33722804	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:33722124-33725044	MCF10A-Er-Src	breast:	n/a	n/a
20	TAF1	chr11:33722130-33723225	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr11:33722042-33723040	SK-N-MC	brain:	n/a	n/a
22	RCOR1	chr11:33722025-33722949	K562	blood:	n/a	n/a
23	MAX	chr11:33722182-33722728	HepG2	liver:	n/a	chr11:33722471-33722481
24	SP1	chr11:33722017-33722934	A549	lung:	n/a	chr11:33722471-33722485 chr11:33722375-33722384 chr11:33722552-33722564 chr11:33722470-33722482 chr11:33722374-33722386 chr11:33722470-33722482 chr11:33722376-33722385 chr11:33722471-33722481 chr11:33722552-33722564 chr11:33722374-33722385 chr11:33722511-33722521 chr11:33722472-33722481 chr11:33722471-33722480 chr11:33722395-33722407 chr11:33722510-33722522 chr11:33722374-33722386 chr11:33722375-33722384 chr11:33722395-33722406 chr11:33722511-33722521 chr11:33722471-33722481 chr11:33722510-33722522
25	MAX	chr11:33722061-33722849	SK-N-SH	brain:	n/a	chr11:33722471-33722481
26	CHD2	chr11:33722096-33722815	HepG2	liver:	n/a	n/a
27	EGR1	chr11:33722036-33722552	ECC-1	luminal epithelium:	n/a	chr11:33722472-33722482 chr11:33722302-33722313 chr11:33722471-33722481 chr11:33722301-33722315 chr11:33722303-33722313 chr11:33722302-33722316 chr11:33722303-33722313 chr11:33722302-33722313 chr11:33722301-33722314
28	POLR2A	chr11:33721313-33723788	HUVEC	blood vessel:	n/a	n/a
29	PML	chr11:33722066-33723219	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:33722427-33722750	H1-hESC	embryonic stem cell:	n/a	n/a
31	EGR1	chr11:33722072-33722753	MCF-7	breast:	n/a	chr11:33722472-33722482 chr11:33722302-33722313 chr11:33722471-33722481 chr11:33722301-33722315 chr11:33722303-33722313 chr11:33722302-33722316 chr11:33722303-33722313 chr11:33722302-33722313 chr11:33722301-33722314
32	TBP	chr11:33722255-33722991	HepG2	liver:	n/a	n/a
33	MAZ	chr11:33722014-33722775	Hela-S3	cervix:	n/a	chr11:33722471-33722481
34	SIN3AK20	chr11:33722059-33722845	PANC-1	pancreas:	n/a	n/a
35	NFYA	chr11:33722276-33722542	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr11:33722155-33722755	Hela-S3	cervix:	n/a	n/a
37	MAZ	chr11:33721975-33722789	K562	blood:	n/a	chr11:33722471-33722481
38	MYC	chr11:33722289-33722867	K562	blood:	n/a	chr11:33722471-33722481
39	TAF1	chr11:33722069-33722762	HepG2	liver:	n/a	n/a
40	POLR2A	chr11:33722085-33723937	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:33722071-33724569	PANC-1	pancreas:	n/a	n/a
42	FOS	chr11:33722195-33723669	HUVEC	blood vessel:	n/a	n/a
43	YY1	chr11:33722038-33722517	K562	blood:	n/a	n/a
44	POLR2A	chr11:33722066-33722918	GM12892	blood:	n/a	n/a
45	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
46	EGR1	chr11:33722074-33722564	ECC-1	luminal epithelium:	n/a	chr11:33722472-33722482 chr11:33722302-33722313 chr11:33722471-33722481 chr11:33722301-33722315 chr11:33722303-33722313 chr11:33722302-33722316 chr11:33722303-33722313 chr11:33722302-33722313 chr11:33722301-33722314
47	SMC3	chr11:33722266-33723205	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:33722220-33722763	MCF-7	breast:	n/a	n/a
49	POLR2A	chr11:33722001-33722765	HepG2	liver:	n/a	n/a
50	ELF1	chr11:33722144-33722742	GM12878	blood:	n/a	chr11:33722554-33722566

No.	Distal block	Cell Line	Cell type
1	chr11:33722397..33723935-chr11:33724881..33726688,2	K562	blood:
2	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:
3	chr11:33722149..33723049-chr16:2014567..2015355,2	Hela-S3	cervix:
4	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
5	chr11:33720036..33722677-chr11:33824670..33827365,2	K562	blood:
6	chr11:33722379..33724106-chr11:33727718..33730003,2	K562	blood:
7	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
8	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
9	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:

Variant related genes	Relation type
ENSG00000255202	TF binding region
C11orf91	TF binding region
ENSG00000255169	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11585	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7130936	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 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	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33719600-33722600	Enhancers	HUVEC	blood vessel
3	chr11:33720800-33722600	Weak transcription	Fetal Lung	lung
4	chr11:33720800-33723600	Enhancers	Spleen	Spleen
5	chr11:33721400-33722800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:33721400-33722800	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:33721600-33722800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr11:33721600-33722800	Active TSS	Fetal Brain Female	brain
9	chr11:33721800-33722600	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr11:33721800-33722600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:33721800-33722600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:33721800-33722600	Active TSS	Primary T cells from cord blood	blood
13	chr11:33721800-33722600	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:33721800-33722600	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr11:33721800-33722600	Active TSS	Brain Germinal Matrix	brain
16	chr11:33721800-33722600	Active TSS	Brain Hippocampus Middle	brain
17	chr11:33721800-33722600	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:33721800-33722600	Active TSS	Brain Substantia Nigra	brain
19	chr11:33721800-33722600	Active TSS	Colon Smooth Muscle	Colon
20	chr11:33721800-33722600	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr11:33721800-33722600	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr11:33721800-33722600	Active TSS	GM12878-XiMat	blood
23	chr11:33721800-33722600	Active TSS	HSMM	muscle
24	chr11:33721800-33722600	Active TSS	K562	blood
25	chr11:33721800-33722600	Active TSS	NHEK	skin
26	chr11:33721800-33722800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:33721800-33722800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr11:33721800-33722800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr11:33721800-33722800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:33721800-33722800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:33721800-33722800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:33721800-33722800	Active TSS	Aorta	Aorta
33	chr11:33721800-33722800	Active TSS	Brain Angular Gyrus	brain
34	chr11:33721800-33722800	Active TSS	Brain Anterior Caudate	brain
35	chr11:33721800-33722800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:33721800-33722800	Active TSS	Duodenum Mucosa	Duodenum
37	chr11:33721800-33722800	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:33721800-33722800	Active TSS	Esophagus	oesophagus
39	chr11:33721800-33722800	Transcr. at gene 5' and 3'	Right Atrium	heart
40	chr11:33721800-33722800	Active TSS	Small Intestine	intestine
41	chr11:33721800-33722800	Active TSS	Stomach Smooth Muscle	stomach
42	chr11:33721800-33722800	Active TSS	HepG2	liver
43	chr11:33721800-33723000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:33721800-33723000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr11:33721800-33723000	Active TSS	Left Ventricle	heart
46	chr11:33721800-33723000	Active TSS	Psoas Muscle	Psoas
47	chr11:33721800-33723200	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr11:33722000-33722600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr11:33722000-33722600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:33722000-33722600	Active TSS	Primary monocytes fromperipheralblood	blood

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