Variant report

Variant	rs7330080
Chromosome Location	chr13:111367115-111367116
allele	C/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	POLR2A	chr13:111367107-111368449	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr13:111366379-111367122	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr13:111367015-111368511	HUVEC	blood vessel:	n/a	n/a
4	E2F4	chr13:111366923-111368233	K562	blood:	n/a	chr13:111367183-111367193 chr13:111367332-111367344 chr13:111366991-111367001 chr13:111367332-111367341 chr13:111367368-111367377
5	POLR2A	chr13:111363953-111368530	HUVEC	blood vessel:	n/a	n/a
6	HCFC1	chr13:111363852-111369388	Hela-S3	cervix:	n/a	n/a
7	CHD2	chr13:111366731-111368786	Hela-S3	cervix:	n/a	chr13:111366785-111366792 chr13:111368525-111368535
8	HEY1	chr13:111366987-111368399	HepG2	liver:	n/a	chr13:111367183-111367198
9	ELF1	chr13:111366238-111368717	GM12878	blood:	n/a	chr13:111366324-111366336 chr13:111366732-111366744 chr13:111366323-111366332 chr13:111367181-111367193 chr13:111367759-111367771
10	MYC	chr13:111363992-111368746	NB4	blood:	n/a	chr13:111367187-111367197
11	ESRRA	chr13:111363902-111368825	GM12878	blood:	n/a	chr13:111367521-111367537 chr13:111368738-111368756 chr13:111366821-111366834
12	POLR2A	chr13:111367073-111368486	HepG2	liver:	n/a	n/a
13	MAZ	chr13:111364464-111368802	K562	blood:	n/a	chr13:111367187-111367197
14	ZBTB7A	chr13:111367087-111367420	K562	blood:	n/a	n/a
15	POLR2A	chr13:111366999-111368395	SK-N-SH	brain:	n/a	n/a
16	TAF1	chr13:111367046-111368675	ECC-1	luminal epithelium:	n/a	n/a
17	TCF7L2	chr13:111366962-111367140	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr13:111367096-111368880	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:111363916-111368898	K562	blood:	n/a	n/a
20	POLR2A	chr13:111366448-111368766	HepG2	liver:	n/a	n/a
21	MAZ	chr13:111366907-111368633	HepG2	liver:	n/a	chr13:111367187-111367197
22	SIN3A	chr13:111364248-111368900	H1-hESC	embryonic stem cell:	n/a	chr13:111366905-111366914 chr13:111367038-111367049 chr13:111368414-111368427 chr13:111367190-111367201 chr13:111367188-111367201 chr13:111368413-111368421 chr13:111368745-111368753
23	POLR2A	chr13:111366550-111368524	K562	blood:	n/a	n/a
24	MTA3	chr13:111366908-111368832	GM12878	blood:	n/a	n/a
25	MAZ	chr13:111364341-111368792	Hela-S3	cervix:	n/a	chr13:111367187-111367197
26	BCLAF1	chr13:111367075-111367915	GM12878	blood:	n/a	chr13:111367185-111367198
27	SMARCC1	chr13:111366473-111368730	Hela-S3	cervix:	n/a	n/a
28	POU2F2	chr13:111366910-111368449	GM12878	blood:	n/a	chr13:111367737-111367752 chr13:111367762-111367774 chr13:111367740-111367750 chr13:111367738-111367750 chr13:111367741-111367749 chr13:111367735-111367750 chr13:111367740-111367751 chr13:111366914-111366926 chr13:111367736-111367754
29	POLR2A	chr13:111364367-111368723	GM12892	blood:	n/a	n/a
30	POLR2A	chr13:111366832-111368524	ProgFib	skin:	n/a	n/a
31	RCOR1	chr13:111366952-111368787	Hela-S3	cervix:	n/a	n/a
32	TAF1	chr13:111367064-111368492	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr13:111367092-111368458	K562	blood:	n/a	n/a
34	POLR2A	chr13:111366811-111368635	MCF-7	breast:	n/a	n/a
35	POLR2A	chr13:111366452-111368484	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr13:111364307-111368471	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr13:111364267-111368717	NB4	blood:	n/a	n/a
38	UBTF	chr13:111363926-111368938	K562	blood:	n/a	n/a
39	POLR2A	chr13:111364302-111368662	GM12878	blood:	n/a	n/a
40	MXI1	chr13:111363930-111369268	IMR90	lung:	n/a	n/a
41	POLR2A	chr13:111366733-111367177	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr13:111367080-111367230	BJ	skin:	n/a	n/a
43	POLR2A	chr13:111366447-111368413	GM12878	blood:	n/a	n/a
44	SIN3AK20	chr13:111367088-111368190	MCF-7	breast:	n/a	n/a
45	POLR2A	chr13:111364360-111368607	GM19193	blood:	n/a	n/a
46	RAD21	chr13:111367091-111367810	IMR90	lung:	n/a	n/a
47	POLR2A	chr13:111367080-111368463	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr13:111367044-111368536	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr13:111363939-111368495	GM12878	blood:	n/a	n/a
50	POLR2A	chr13:111366956-111368375	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111335027..111337821-chr13:111366043..111367943,3	K562	blood:
2	chr13:111364046..111369200-chr13:111563217..111572060,23	MCF-7	breast:
3	chr13:111366242..111369169-chr9:123638760..123640480,2	K562	blood:
4	chr13:111158122..111160358-chr13:111366408..111368725,2	MCF-7	breast:
5	chr13:111158296..111161279-chr13:111366588..111368622,2	K562	blood:
6	chr13:110436751..110439195-chr13:111365292..111367804,2	K562	blood:
7	chr13:111362764..111370771-chr13:111560775..111570046,21	K562	blood:
8	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:
9	chr13:111367054..111367695-chr16:28834502..28835178,2	Hela-S3	cervix:
10	chr13:111362818..111369538-chr13:111519409..111528258,26	K562	blood:
11	chr1:200638454..200639452-chr13:111366742..111367683,2	Hela-S3	cervix:
12	chr13:111296887..111299817-chr13:111365376..111368411,4	MCF-7	breast:
13	chr13:111295643..111300120-chr13:111365518..111369026,8	MCF-7	breast:
14	chr13:111366177..111368396-chr13:111465118..111467461,3	K562	blood:
15	chr13:111334321..111336628-chr13:111364897..111367415,3	MCF-7	breast:
16	chr13:111365698..111367704-chr13:111465190..111467444,3	K562	blood:
17	chr13:111365767..111368359-chr13:111545152..111547913,2	K562	blood:
18	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:
19	chr13:111297109..111298768-chr13:111365572..111368457,2	K562	blood:
20	chr13:111266965..111271727-chr13:111364973..111369025,9	MCF-7	breast:
21	chr13:111362370..111368494-chr13:111564438..111569891,17	K562	blood:
22	chr13:111158284..111162693-chr13:111363847..111368622,9	K562	blood:
23	chr13:111212473..111215656-chr13:111365341..111368678,3	K562	blood:
24	chr13:111303282..111307425-chr13:111364172..111367673,6	MCF-7	breast:
25	chr13:111211605..111215710-chr13:111363534..111368936,10	MCF-7	breast:
26	chr13:111315803..111317309-chr13:111365630..111368023,2	MCF-7	breast:
27	chr13:111265756..111270693-chr13:111363417..111370660,10	K562	blood:
28	chr13:111366707..111367602-chr15:50715895..50716764,2	NB4	blood:
29	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
30	chr13:111266737..111268751-chr13:111366724..111368921,2	K562	blood:
31	chr13:111366992..111367725-chr5:55290748..55291382,2	NB4	blood:
32	chr13:111364470..111369495-chr13:111465123..111470179,9	MCF-7	breast:
33	chr13:111363080..111368100-chr13:111564424..111568464,9	MCF-7	breast:
34	chr13:111265515..111270086-chr13:111364987..111368051,5	MCF-7	breast:
35	chr13:111289947..111291840-chr13:111364201..111367983,3	MCF-7	breast:
36	chr11:85779754..85780343-chr13:111367026..111368006,2	Hela-S3	cervix:
37	chr13:111364196..111369437-chr13:111520146..111525538,15	K562	blood:
38	chr13:111366101..111367907-chr13:111415468..111417217,2	K562	blood:
39	chr13:111367039..111367790-chr3:25824468..25825389,2	Hela-S3	cervix:
40	chr13:111363576..111369085-chr13:111458761..111470393,19	MCF-7	breast:

Variant related genes	Relation type
CARS2	TF binding region
ING1	TF binding region
ENSG00000134352	Chromatin interaction
ENSG00000119403	Chromatin interaction
ENSG00000151092	Chromatin interaction
ENSG00000255874	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000185950	Chromatin interaction
ENSG00000168488	Chromatin interaction
ENSG00000227908	Chromatin interaction
ENSG00000088448	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000259831	Chromatin interaction
ENSG00000260088	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000151093	Chromatin interaction
ENSG00000232814	Chromatin interaction
ENSG00000118197	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000213995	Chromatin interaction
ENSG00000255831	Chromatin interaction
ENSG00000225239	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1061386	0.86[EUR][1000 genomes]
rs11618891	0.84[EUR][1000 genomes]
rs12875067	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1441042	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1441043	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2083568	0.91[AMR][1000 genomes]
rs2119479	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2165418	0.83[EUR][1000 genomes]
rs2289461	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3809344	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3818496	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4771707	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4773240	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4773241	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4773244	0.82[EUR][1000 genomes]
rs61971615	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6492302	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6492303	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6492304	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6492305	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6492306	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6492308	0.84[EUR][1000 genomes]
rs6492310	0.87[AMR][1000 genomes]
rs7318291	0.87[EUR][1000 genomes]
rs7319459	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7337126	0.86[EUR][1000 genomes]
rs7338458	0.86[EUR][1000 genomes]
rs754599	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7984468	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7985098	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7986286	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7991766	0.85[EUR][1000 genomes]
rs9301476	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9515273	0.83[EUR][1000 genomes]
rs9515274	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9521905	0.87[EUR][1000 genomes]
rs9521909	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9521910	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9521913	0.83[EUR][1000 genomes]
rs9521914	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9521915	0.84[EUR][1000 genomes]
rs9555724	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9555726	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559863	0.85[EUR][1000 genomes]
rs9588247	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
2	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
5	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 gene(s)	inside rSNPs	diseases
6	esv3437341	chr13:111364976-111367524	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	183 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7330080	CARS2	cis	Nerve Tibial	GTEx
rs7330080	CARS2	cis	Esophagus Muscularis	GTEx
rs7330080	CARS2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111363600-111369000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr13:111363600-111369000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:111363600-111370000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr13:111363600-111370000	Active TSS	K562	blood
5	chr13:111363600-111370400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr13:111363600-111370800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr13:111363800-111368600	Active TSS	Fetal Brain Female	brain
8	chr13:111363800-111368800	Bivalent/Poised TSS	HepG2	liver
9	chr13:111363800-111369000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:111363800-111369000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr13:111363800-111369400	Active TSS	Right Ventricle	heart
12	chr13:111363800-111369600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:111363800-111369800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr13:111363800-111369800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:111363800-111369800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr13:111363800-111369800	Active TSS	Psoas Muscle	Psoas
17	chr13:111363800-111370200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr13:111363800-111370400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr13:111363800-111370600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:111363800-111370800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr13:111364000-111367600	Active TSS	Fetal Heart	heart
22	chr13:111364000-111369000	Active TSS	Esophagus	oesophagus
23	chr13:111364000-111369200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:111364000-111369200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:111364000-111369200	Active TSS	Fetal Muscle Trunk	muscle
26	chr13:111364000-111369200	Active TSS	Left Ventricle	heart
27	chr13:111364000-111369600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr13:111364000-111370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr13:111364000-111370200	Active TSS	Colonic Mucosa	Colon
30	chr13:111364000-111370200	Active TSS	Fetal Intestine Large	intestine
31	chr13:111364000-111370200	Active TSS	Fetal Intestine Small	intestine
32	chr13:111364000-111370400	Active TSS	H1 Cell Line	embryonic stem cell
33	chr13:111364200-111368600	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr13:111364200-111368600	Active TSS	Liver	Liver
35	chr13:111364200-111368600	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr13:111364200-111368600	Active TSS	Thymus	Thymus
37	chr13:111364200-111368800	Active TSS	Brain Anterior Caudate	brain
38	chr13:111364200-111368800	Active TSS	Fetal Kidney	kidney
39	chr13:111364200-111368800	Active TSS	Placenta Amnion	Placenta Amnion
40	chr13:111364200-111368800	Active TSS	Small Intestine	intestine
41	chr13:111364200-111369000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:111364200-111369000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:111364200-111369000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr13:111364200-111369000	Active TSS	Aorta	Aorta
45	chr13:111364200-111369000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:111364200-111369000	Active TSS	Placenta	Placenta
47	chr13:111364200-111369000	Active TSS	Pancreas	Pancrea
48	chr13:111364200-111369000	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr13:111364200-111369000	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr13:111364200-111369000	Active TSS	A549	lung

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