Variant report

Variant	rs73465700
Chromosome Location	chr11:47663892-47663893
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	MYC	chr11:47663672-47664545	NB4	blood:	n/a	chr11:47664084-47664093
2	MXI1	chr11:47662891-47664597	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:47663550-47664613	Raji	blood:	n/a	n/a
4	BHLHE40	chr11:47663862-47664356	HepG2	liver:	n/a	chr11:47664144-47664160 chr11:47664084-47664093 chr11:47664082-47664095 chr11:47664078-47664099 chr11:47664084-47664093 chr11:47664085-47664094 chr11:47664083-47664092
5	POLR2A	chr11:47663693-47664588	GM12891	blood:	n/a	n/a
6	YY1	chr11:47663688-47664489	SK-N-SH_RA	brain:	n/a	chr11:47664167-47664176
7	TCF12	chr11:47663635-47664493	ECC-1	luminal epithelium:	n/a	n/a
8	ZNF143	chr11:47663793-47664492	GM12878	blood:	n/a	chr11:47663893-47663911
9	MYC	chr11:47662599-47665236	K562	blood:	n/a	chr11:47664084-47664093 chr11:47665218-47665227 chr11:47665219-47665226 chr11:47665213-47665228 chr11:47665216-47665227
10	POLR2A	chr11:47663801-47664564	HCT-116	colon:	n/a	n/a
11	RELA	chr11:47663799-47664562	GM18505	blood:	n/a	n/a
12	ZEB1	chr11:47663707-47664263	GM12878	blood:	n/a	n/a
13	HEY1	chr11:47663722-47664181	K562	blood:	n/a	n/a
14	POLR2A	chr11:47663584-47664181	GM12878	blood:	n/a	n/a
15	BRCA1	chr11:47663422-47664520	Hela-S3	cervix:	n/a	n/a
16	MTA3	chr11:47663332-47664727	GM12878	blood:	n/a	n/a
17	NFIC	chr11:47663405-47664207	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr11:47663628-47664450	A549	lung:	n/a	n/a
19	MAX	chr11:47663827-47664475	K562	blood:	n/a	chr11:47664084-47664093
20	POLR2A	chr11:47663459-47665017	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:47663661-47664182	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:47663760-47664608	HCT-116	colon:	n/a	n/a
23	TAF1	chr11:47663690-47664618	PFSK-1	brain:	n/a	n/a
24	CTCF	chr11:47663820-47663970	AG10803	skin:	n/a	n/a
25	REST	chr11:47663773-47664183	SK-N-SH	brain:	n/a	chr11:47663873-47663891
26	HEY1	chr11:47663469-47664241	K562	blood:	n/a	n/a
27	POLR2A	chr11:47663766-47664175	HepG2	liver:	n/a	n/a
28	POLR2A	chr11:47663617-47664191	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:47663614-47664476	A549	lung:	n/a	n/a
30	ZMIZ1	chr11:47663630-47664595	K562	blood:	n/a	n/a
31	TCF3	chr11:47663878-47664086	GM12878	blood:	n/a	n/a
32	MAX	chr11:47663169-47664533	Hela-S3	cervix:	n/a	chr11:47664084-47664093
33	USF2	chr11:47663809-47664493	H1-hESC	embryonic stem cell:	n/a	chr11:47664082-47664093 chr11:47664144-47664160 chr11:47664084-47664093 chr11:47664082-47664095 chr11:47664078-47664099 chr11:47664084-47664093 chr11:47664085-47664094 chr11:47664083-47664092
34	SIN3A	chr11:47663701-47664537	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:47663633-47664594	K562	blood:	n/a	n/a
36	FOSL2	chr11:47663441-47664051	A549	lung:	n/a	n/a
37	SIN3AK20	chr11:47663868-47664462	HepG2	liver:	n/a	n/a
38	HEY1	chr11:47663483-47664573	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr11:47663543-47664543	SK-N-SH	brain:	n/a	n/a
40	USF1	chr11:47663743-47664455	SK-N-SH_RA	brain:	n/a	chr11:47664082-47664093 chr11:47664144-47664160 chr11:47664084-47664093 chr11:47664082-47664095 chr11:47664078-47664099 chr11:47664084-47664093 chr11:47664085-47664094 chr11:47664083-47664092
41	TAF1	chr11:47663685-47664165	GM12892	blood:	n/a	n/a
42	POLR2A	chr11:47663524-47664571	IMR90	lung:	n/a	n/a
43	JUN	chr11:47663889-47664578	K562	blood:	n/a	chr11:47664169-47664178 chr11:47664168-47664177
44	ZEB1	chr11:47663843-47664043	GM12878	blood:	n/a	n/a
45	STAT5A	chr11:47663447-47664695	GM12878	blood:	n/a	chr11:47663670-47663682
46	POLR2A	chr11:47663468-47664660	H1-neurons	neurons:	n/a	n/a
47	USF1	chr11:47663760-47664373	SK-N-SH_RA	brain:	n/a	chr11:47664082-47664093 chr11:47664144-47664160 chr11:47664084-47664093 chr11:47664082-47664095 chr11:47664078-47664099 chr11:47664084-47664093 chr11:47664085-47664094 chr11:47664083-47664092
48	POLR2A	chr11:47663694-47664809	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:47663800-47664591	GM12878	blood:	n/a	n/a
50	USF1	chr11:47663685-47664495	K562	blood:	n/a	chr11:47664082-47664093 chr11:47664144-47664160 chr11:47664084-47664093 chr11:47664082-47664095 chr11:47664078-47664099 chr11:47664084-47664093 chr11:47664085-47664094 chr11:47664083-47664092

No.	Distal block	Cell Line	Cell type
1	chr11:47663817..47664494-chr13:101326174..101327133,2	Hela-S3	cervix:
2	chr11:47660129..47661788-chr11:47662493..47664105,2	MCF-7	breast:
3	chr11:47663635..47664413-chr21:28217518..28218073,2	Hela-S3	cervix:
4	chr11:47599184..47601918-chr11:47661794..47664226,4	MCF-7	breast:
5	chr11:47663126..47663917-chr11:47735845..47736412,2	MCF-7	breast:
6	chr11:47663604..47664110-chr16:57836092..57836625,2	Hela-S3	cervix:
7	chr11:47663509..47666496-chr11:47787150..47790595,4	MCF-7	breast:
8	chr11:47663756..47666703-chr11:47730078..47732549,2	MCF-7	breast:
9	chr11:47572750..47576231-chr11:47662956..47665605,3	K562	blood:
10	chr11:47662615..47664358-chr11:47788211..47790386,2	K562	blood:
11	chr1:35658580..35659199-chr11:47663778..47664281,2	Hela-S3	cervix:
12	chr11:47599811..47601393-chr11:47661829..47664063,2	K562	blood:
13	chr11:47663591..47664273-chr16:18812487..18813289,2	Hela-S3	cervix:
14	chr11:47662583..47667763-chr11:47735291..47739208,6	MCF-7	breast:
15	chr11:47663305..47664213-chr14:21737267..21737936,2	HCT-116	colon:
16	chr11:47662615..47665881-chr11:47786940..47791485,8	K562	blood:
17	chr11:47662579..47666117-chr11:47735408..47738256,8	MCF-7	breast:

Variant related genes	Relation type
MTCH2	TF binding region
ENSG00000123444	Chromatin interaction
ENSG00000154734	Chromatin interaction
ENSG00000109920	Chromatin interaction
ENSG00000231880	Chromatin interaction
ENSG00000116560	Chromatin interaction
ENSG00000125247	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000213619	Chromatin interaction
ENSG00000140859	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000260342	Chromatin interaction
ENSG00000149187	Chromatin interaction
ENSG00000170540	Chromatin interaction
ENSG00000109919	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs56904157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56962998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57086723	1.00[EUR][1000 genomes]
rs57175250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57830455	1.00[EUR][1000 genomes]
rs57878668	1.00[EUR][1000 genomes]
rs58556689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59055358	1.00[AMR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60582355	1.00[EUR][1000 genomes]
rs61144745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61654484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73451054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73453047	1.00[AMR][1000 genomes]
rs73453068	1.00[AMR][1000 genomes]
rs73456963	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456978	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73456993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73459751	1.00[EUR][1000 genomes]
rs73459799	1.00[EUR][1000 genomes]
rs73461723	1.00[EUR][1000 genomes]
rs73461734	1.00[EUR][1000 genomes]
rs73461744	1.00[EUR][1000 genomes]
rs73461779	1.00[EUR][1000 genomes]
rs73461796	1.00[EUR][1000 genomes]
rs73461797	1.00[EUR][1000 genomes]
rs73463785	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73465695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467344	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73467345	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832142	chr11:47517955-47681310	Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	esv3424537	chr11:47660545-47663980	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 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	chr11:47662400-47664800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:47662400-47664800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr11:47662600-47664600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:47662600-47664600	Active TSS	HSMM	muscle
5	chr11:47662600-47664800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr11:47662800-47664600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:47662800-47664600	Active TSS	Pancreas	Pancrea
8	chr11:47662800-47664600	Active TSS	NHDF-Ad	bronchial
9	chr11:47662800-47664800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr11:47662800-47664800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:47662800-47664800	Active TSS	Fetal Intestine Small	intestine
12	chr11:47662800-47664800	Active TSS	NHLF	lung
13	chr11:47662800-47665000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:47663000-47664000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr11:47663000-47664200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:47663000-47664600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr11:47663000-47664600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:47663000-47664600	Active TSS	Aorta	Aorta
19	chr11:47663000-47664600	Active TSS	Right Ventricle	heart
20	chr11:47663000-47664800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:47663000-47664800	Active TSS	Colonic Mucosa	Colon
22	chr11:47663000-47664800	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr11:47663000-47664800	Active TSS	GM12878-XiMat	blood
24	chr11:47663000-47665200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr11:47663000-47665200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:47663000-47665200	Active TSS	Psoas Muscle	Psoas
27	chr11:47663200-47664000	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr11:47663200-47664400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:47663200-47664400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:47663200-47664400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:47663200-47664400	Active TSS	HMEC	breast
32	chr11:47663200-47664400	Active TSS	NHEK	skin
33	chr11:47663200-47664600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:47663200-47664600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:47663200-47664600	Active TSS	Esophagus	oesophagus
36	chr11:47663200-47664600	Active TSS	Fetal Brain Male	brain
37	chr11:47663200-47664600	Active TSS	Gastric	stomach
38	chr11:47663200-47664600	Active TSS	Left Ventricle	heart
39	chr11:47663200-47664600	Active TSS	Lung	lung
40	chr11:47663200-47664600	Active TSS	Ovary	ovary
41	chr11:47663200-47664600	Active TSS	HSMMtube	muscle
42	chr11:47663200-47664800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:47663200-47664800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:47663200-47664800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr11:47663200-47664800	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr11:47663200-47664800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr11:47663200-47664800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:47663200-47664800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:47663200-47664800	Active TSS	Brain Angular Gyrus	brain
50	chr11:47663200-47664800	Active TSS	Right Atrium	heart

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