Variant report

Variant	rs73487880
Chromosome Location	chr11:62651453-62651454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:50 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62651140-62652023	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAFK	chr11:62651409-62652475	GM12878	blood:	n/a	chr11:62652184-62652194 chr11:62652178-62652198 chr11:62652180-62652196 chr11:62652178-62652189 chr11:62652177-62652193 chr11:62652182-62652191 chr11:62652177-62652192 chr11:62652181-62652195
3	POLR2A	chr11:62647549-62652363	U87	brain:	n/a	n/a
4	POLR2A	chr11:62650970-62651553	K562	blood:	n/a	n/a
5	POLR2A	chr11:62650175-62652069	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:62647110-62659411	PFSK-1	brain:	n/a	n/a
7	TFAP2C	chr11:62651206-62651576	Hela-S3	cervix:	n/a	chr11:62651379-62651394
8	POLR2A	chr11:62650804-62652260	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:62647788-62652250	K562	blood:	n/a	n/a
10	POLR2A	chr11:62647612-62652346	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:62647487-62652263	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:62647618-62652273	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:62647526-62653906	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:62650159-62652159	A549	lung:	n/a	n/a
15	POLR2A	chr11:62646624-62655022	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr11:62650918-62651638	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:62650868-62651508	GM12892	blood:	n/a	n/a
18	POLR2A	chr11:62650868-62652312	K562	blood:	n/a	n/a
19	POLR2A	chr11:62650880-62652268	H1-hESC	embryonic stem cell:	n/a	n/a
20	SIN3AK20	chr11:62651034-62652229	MCF-7	breast:	n/a	n/a
21	POLR2A	chr11:62651249-62652204	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:62651034-62652354	A549	lung:	n/a	n/a
23	POLR2A	chr11:62647775-62652286	Hela-S3	cervix:	n/a	n/a
24	HEY1	chr11:62651188-62652273	K562	blood:	n/a	n/a
25	POLR2A	chr11:62647645-62652283	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:62651350-62652140	K562	blood:	n/a	n/a
27	POLR2A	chr11:62651314-62651628	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:62650928-62651584	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr11:62651440-62651933	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:62650925-62652145	HepG2	liver:	n/a	n/a
31	HCFC1	chr11:62647349-62651885	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr11:62650171-62652123	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:62647309-62652303	K562	blood:	n/a	n/a
34	CTCF	chr11:62651285-62652281	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr11:62651122-62651509	ECC-1	luminal epithelium:	n/a	n/a
36	USF2	chr11:62650175-62652211	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:62650890-62652302	K562	blood:	n/a	n/a
38	POLR2A	chr11:62647612-62652357	U87	brain:	n/a	n/a
39	POLR2A	chr11:62647681-62652261	U87	brain:	n/a	n/a
40	POLR2A	chr11:62650745-62651567	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr11:62650893-62651764	HepG2	liver:	n/a	n/a
42	POLR2A	chr11:62646772-62659196	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr11:62651410-62652104	K562	blood:	n/a	n/a
44	POLR2A	chr11:62647354-62652120	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr11:62647922-62652211	MCF-7	breast:	n/a	n/a
46	POLR2A	chr11:62650898-62652120	HCT-116	colon:	n/a	n/a
47	BHLHE40	chr11:62651391-62651514	K562	blood:	n/a	n/a
48	TFAP2A	chr11:62651174-62651590	Hela-S3	cervix:	n/a	chr11:62651380-62651391 chr11:62651451-62651463 chr11:62651379-62651394 chr11:62651379-62651393 chr11:62651380-62651391 chr11:62651380-62651391 chr11:62651380-62651391
49	TBL1XR1	chr11:62651242-62652189	K562	blood:	n/a	n/a
50	POLR2A	chr11:62650879-62652218	HL-60	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62535249..62539593-chr11:62647377..62651642,6	K562	blood:
2	chr11:62553687..62556493-chr11:62649816..62651881,2	MCF-7	breast:
3	chr11:62431843..62435669-chr11:62647350..62651900,6	K562	blood:
4	chr11:62435729..62437858-chr11:62648872..62651709,3	K562	blood:
5	chr11:62564915..62566482-chr11:62649710..62651622,2	MCF-7	breast:
6	chr11:62492683..62497467-chr11:62646838..62651892,11	MCF-7	breast:
7	chr11:62568262..62574296-chr11:62646831..62652869,25	K562	blood:
8	chr11:62570028..62574835-chr11:62645876..62651719,9	MCF-7	breast:
9	chr11:62614063..62631836-chr11:62641578..62658963,131	K562	blood:
10	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
11	chr11:62557524..62562234-chr11:62648109..62651861,7	MCF-7	breast:
12	chr11:62551512..62560180-chr11:62645894..62651775,24	K562	blood:
13	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:
14	chr11:62494848..62497527-chr11:62648333..62651909,3	K562	blood:

No data

Variant related genes	Relation type
SLC3A2	TF binding region
ENSG00000168003	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000256690	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162236	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000214753	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11568617	1.00[AMR][1000 genomes]
rs11568622	1.00[AMR][1000 genomes]
rs11822922	1.00[EUR][1000 genomes]
rs12273912	1.00[EUR][1000 genomes]
rs1787724	1.00[EUR][1000 genomes]
rs2510538	1.00[EUR][1000 genomes]
rs2584915	1.00[EUR][1000 genomes]
rs2584917	1.00[EUR][1000 genomes]
rs2730030	1.00[EUR][1000 genomes]
rs2956139	1.00[EUR][1000 genomes]
rs2958240	1.00[EUR][1000 genomes]
rs481272	1.00[EUR][1000 genomes]
rs482331	1.00[EUR][1000 genomes]
rs486451	1.00[EUR][1000 genomes]
rs489275	1.00[EUR][1000 genomes]
rs4963309	1.00[EUR][1000 genomes]
rs506132	1.00[EUR][1000 genomes]
rs507101	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs514401	1.00[EUR][1000 genomes]
rs518780	1.00[EUR][1000 genomes]
rs519473	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523328	1.00[EUR][1000 genomes]
rs544573	1.00[EUR][1000 genomes]
rs560006	0.87[AFR][1000 genomes]
rs560603	0.83[AFR][1000 genomes]
rs560618	1.00[EUR][1000 genomes]
rs561385	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56226867	1.00[EUR][1000 genomes]
rs56262657	1.00[EUR][1000 genomes]
rs564587	1.00[EUR][1000 genomes]
rs572513	1.00[EUR][1000 genomes]
rs573146	1.00[EUR][1000 genomes]
rs57338459	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs575134	1.00[EUR][1000 genomes]
rs577071	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57858466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592337	1.00[EUR][1000 genomes]
rs595108	1.00[EUR][1000 genomes]
rs60568977	1.00[EUR][1000 genomes]
rs60668695	1.00[EUR][1000 genomes]
rs619109	1.00[EUR][1000 genomes]
rs646194	1.00[EUR][1000 genomes]
rs692773	1.00[EUR][1000 genomes]
rs694678	1.00[EUR][1000 genomes]
rs73487834	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73487878	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73487879	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73490026	1.00[EUR][1000 genomes]
rs73492003	1.00[AMR][1000 genomes]
rs73492015	1.00[AMR][1000 genomes]
rs73502133	1.00[EUR][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	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
4	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
5	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 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	chr11:62647200-62652000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
2	chr11:62647400-62651800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
3	chr11:62648400-62651600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
4	chr11:62649200-62651800	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
5	chr11:62649200-62652000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr11:62649200-62652000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr11:62649200-62657600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:62649400-62651600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
9	chr11:62649400-62651600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
10	chr11:62649400-62651600	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
11	chr11:62649400-62651600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:62649400-62651800	Transcr. at gene 5' and 3'	A549	lung
13	chr11:62649400-62652000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
14	chr11:62649400-62652200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:62649400-62652200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
16	chr11:62649400-62652200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:62649400-62652200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
18	chr11:62649400-62652200	Transcr. at gene 5' and 3'	K562	blood
19	chr11:62649400-62653000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
20	chr11:62649400-62653200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:62649400-62653200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
22	chr11:62649400-62653200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:62649400-62653200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
24	chr11:62649400-62653200	Transcr. at gene 5' and 3'	HMEC	breast
25	chr11:62649400-62653400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:62649400-62653400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:62649400-62653400	Transcr. at gene 5' and 3'	Dnd41	blood
28	chr11:62649400-62653400	Transcr. at gene 5' and 3'	Hela-S3	cervix
29	chr11:62649400-62653400	Transcr. at gene 5' and 3'	NHEK	skin
30	chr11:62649400-62654800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:62649400-62655000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:62649600-62651600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
33	chr11:62649600-62652000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:62649600-62652000	Transcr. at gene 5' and 3'	Placenta	Placenta
35	chr11:62649600-62652200	Transcr. at gene 5' and 3'	Osteobl	bone
36	chr11:62649600-62653600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr11:62649800-62651800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr11:62649800-62652200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:62649800-62652200	Genic enhancers	Placenta Amnion	Placenta Amnion
40	chr11:62649800-62653000	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
41	chr11:62650000-62651600	Genic enhancers	Liver	Liver
42	chr11:62650000-62651600	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
43	chr11:62650000-62651600	Transcr. at gene 5' and 3'	Lung	lung
44	chr11:62650000-62651800	Genic enhancers	Spleen	Spleen
45	chr11:62650000-62652000	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:62650000-62652000	Transcr. at gene 5' and 3'	HepG2	liver
47	chr11:62650000-62652200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
48	chr11:62650000-62653200	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:62650000-62653200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:62650000-62653600	Genic enhancers	Primary T cells fromperipheralblood	blood

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