Variant report

Variant	rs36011588
Chromosome Location	chr11:120196433-120196434
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	MAZ	chr11:120195689-120196562	K562	blood:	n/a	chr11:120195846-120195856
2	FOXA1	chr11:120196135-120196474	T-47D	breast:	n/a	n/a
3	MAX	chr11:120196061-120196641	ECC-1	luminal epithelium:	n/a	n/a
4	ZNF143	chr11:120195450-120196463	H1-hESC	embryonic stem cell:	n/a	chr11:120196021-120196039 chr11:120196334-120196352
5	POLR2A	chr11:120195778-120196619	GM19193	blood:	n/a	n/a
6	TBP	chr11:120195559-120196611	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr11:120195670-120196723	K562	blood:	n/a	n/a
8	TAF1	chr11:120195755-120196499	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:120195884-120196777	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:120195773-120196528	GM18951	blood:	n/a	n/a
11	YY1	chr11:120196229-120196536	GM12878	blood:	n/a	chr11:120196350-120196364 chr11:120196341-120196355
12	MAX	chr11:120195587-120196630	HepG2	liver:	n/a	chr11:120195846-120195856
13	POLR2A	chr11:120195353-120196784	H1-hESC	embryonic stem cell:	n/a	n/a
14	MYC	chr11:120196300-120196601	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr11:120195762-120196444	H1-hESC	embryonic stem cell:	n/a	chr11:120196152-120196166 chr11:120196350-120196364 chr11:120196227-120196241 chr11:120196341-120196355 chr11:120196224-120196238 chr11:120195845-120195854
16	MAX	chr11:120195449-120196655	A549	lung:	n/a	chr11:120195846-120195856
17	POLR2A	chr11:120195829-120196447	ECC-1	luminal epithelium:	n/a	n/a
18	HMGN3	chr11:120195756-120196489	K562	blood:	n/a	n/a
19	UBTF	chr11:120195851-120196550	K562	blood:	n/a	n/a
20	E2F4	chr11:120196296-120196496	MCF10A-Er-Src	breast:	n/a	n/a
21	CREB1	chr11:120195728-120196438	A549	lung:	n/a	n/a
22	SIN3A	chr11:120195463-120196663	H1-hESC	embryonic stem cell:	n/a	chr11:120196149-120196160 chr11:120196026-120196035
23	TCF12	chr11:120195661-120196443	ECC-1	luminal epithelium:	n/a	n/a
24	GATA3	chr11:120195836-120196574	T-47D	breast:	n/a	n/a
25	TAF1	chr11:120196311-120196554	SK-N-SH	brain:	n/a	n/a
26	MAX	chr11:120195751-120196592	HepG2	liver:	n/a	chr11:120195846-120195856
27	POLR2A	chr11:120195585-120196567	H1-neurons	neurons:	n/a	n/a
28	MAX	chr11:120195930-120196470	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:120195827-120196482	A549	lung:	n/a	n/a
30	ELF1	chr11:120195838-120196442	K562	blood:	n/a	chr11:120195895-120195907 chr11:120196001-120196014
31	POLR2A	chr11:120195531-120197490	Hela-S3	cervix:	n/a	n/a
32	HA-E2F1	chr11:120195825-120196493	Hela-S3	cervix:	n/a	chr11:120195867-120195879 chr11:120196231-120196241
33	CCNT2	chr11:120195910-120196440	K562	blood:	n/a	n/a
34	POLR2A	chr11:120195759-120196664	SK-N-SH	brain:	n/a	n/a
35	MAX	chr11:120195802-120196514	H1-hESC	embryonic stem cell:	n/a	chr11:120195846-120195856
36	POLR2A	chr11:120195717-120196522	ECC-1	luminal epithelium:	n/a	n/a
37	E2F6	chr11:120195419-120196561	H1-hESC	embryonic stem cell:	n/a	chr11:120195867-120195879 chr11:120196231-120196241
38	MTA3	chr11:120195485-120196566	GM12878	blood:	n/a	n/a
39	TAF1	chr11:120196190-120196471	K562	blood:	n/a	n/a
40	ZNF263	chr11:120195546-120197048	HEK293-T-REx	kidney:	n/a	chr11:120196140-120196149
41	SIN3AK20	chr11:120195727-120196558	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr11:120195795-120196871	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr11:120195778-120196563	GM12878	blood:	n/a	n/a
44	ZKSCAN1	chr11:120195538-120196440	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr11:120195760-120196571	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:120195773-120196444	HCT-116	colon:	n/a	n/a
47	RFX5	chr11:120195580-120197273	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:120195935-120196452	K562	blood:	n/a	n/a
49	MAX	chr11:120195422-120196526	SK-N-SH	brain:	n/a	chr11:120195846-120195856
50	MXI1	chr11:120195544-120196674	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:120105900..120109423-chr11:120193866..120196780,3	MCF-7	breast:
2	chr11:120195774..120196630-chr3:171757812..171758746,2	Hela-S3	cervix:
3	chr1:114301276..114301895-chr11:120195897..120196744,2	Hela-S3	cervix:
4	chr11:120186835..120191514-chr11:120193209..120197461,6	MCF-7	breast:
5	chr11:120105812..120109397-chr11:120193833..120197413,4	K562	blood:
6	chr11:120174600..120176592-chr11:120196059..120198854,2	K562	blood:

Variant related genes	Relation type
TMEM136	TF binding region
ENSG00000116793	Chromatin interaction
ENSG00000137709	Chromatin interaction
ENSG00000075420	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10790378	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10790380	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10892562	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10892563	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10892564	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10892567	0.82[EUR][1000 genomes]
rs11217821	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11217840	0.84[EUR][1000 genomes]
rs11217841	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11823300	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12361632	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12417581	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12787285	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12806740	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1892894	0.81[EUR][1000 genomes]
rs1893261	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298380	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4539328	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4936517	0.85[EUR][1000 genomes]
rs4938799	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4938801	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4938804	0.80[EUR][1000 genomes]
rs61898351	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6589810	0.83[EUR][1000 genomes]
rs6589811	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7101415	0.83[EUR][1000 genomes]
rs7104639	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7107211	0.81[AMR][1000 genomes]
rs7117063	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7117321	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7121779	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126328	0.81[AMR][1000 genomes]
rs7126413	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7131046	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7478880	0.80[AMR][1000 genomes]
rs7924772	0.82[EUR][1000 genomes]
rs7924963	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7924975	0.84[EUR][1000 genomes]
rs7932658	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7952529	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9633950	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120195400-120196600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
2	chr11:120195400-120196600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:120195400-120196600	Active TSS	Brain Anterior Caudate	brain
4	chr11:120195400-120196600	Active TSS	Brain Germinal Matrix	brain
5	chr11:120195400-120196600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:120195400-120196600	Active TSS	Fetal Brain Female	brain
7	chr11:120195400-120196600	Active TSS	Rectal Smooth Muscle	rectum
8	chr11:120195400-120196800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr11:120195400-120196800	Active TSS	Brain Substantia Nigra	brain
10	chr11:120195400-120197000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:120195400-120197000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr11:120195400-120197000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:120195400-120197000	Active TSS	Stomach Smooth Muscle	stomach
14	chr11:120195400-120197200	Active TSS	A549	lung
15	chr11:120195400-120197400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr11:120195400-120198000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:120195400-120198000	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:120195600-120196600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:120195600-120196600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:120195600-120196600	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr11:120195600-120196600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:120195600-120196600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:120195600-120196600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
24	chr11:120195600-120196600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr11:120195600-120196600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr11:120195600-120196600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:120195600-120196600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr11:120195600-120196600	Active TSS	Psoas Muscle	Psoas
29	chr11:120195600-120196600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr11:120195600-120196800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr11:120195600-120196800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:120195600-120196800	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:120195600-120196800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:120195600-120196800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:120195600-120196800	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:120195600-120196800	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr11:120195600-120196800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:120195600-120197000	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:120195600-120197000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:120195600-120197000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:120195600-120197000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:120195600-120197200	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
43	chr11:120195600-120197200	Active TSS	Left Ventricle	heart
44	chr11:120195600-120197400	Active TSS	Aorta	Aorta
45	chr11:120195600-120197800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:120195600-120198000	Active TSS	Right Ventricle	heart
47	chr11:120195800-120196600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:120195800-120196600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:120195800-120196600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:120195800-120196600	Active TSS	Muscle Satellite Cultured Cells	--

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