Variant report

Variant	rs187307683
Chromosome Location	chr13:111365088-111365089
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	TAF1	chr13:111364280-111365955	ECC-1	luminal epithelium:	n/a	n/a
2	ETS1	chr13:111364539-111365826	GM12878	blood:	n/a	chr13:111365393-111365403 chr13:111365298-111365311 chr13:111365395-111365404 chr13:111364990-111365003 chr13:111364819-111364830
3	SIX5	chr13:111365076-111365385	K562	blood:	n/a	n/a
4	YY1	chr13:111365017-111365547	HCT-116	colon:	n/a	n/a
5	CHD2	chr13:111364494-111365822	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr13:111364636-111365924	K562	blood:	n/a	chr13:111365382-111365391 chr13:111365329-111365341 chr13:111365269-111365278 chr13:111365328-111365339 chr13:111365107-111365119
7	MYC	chr13:111364677-111365511	MCF-7	breast:	n/a	n/a
8	TAF7	chr13:111364487-111365395	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3AK20	chr13:111364775-111365097	PFSK-1	brain:	n/a	n/a
10	ELF1	chr13:111364586-111365879	MCF-7	breast:	n/a	chr13:111364761-111364773 chr13:111364760-111364772 chr13:111365394-111365407 chr13:111365343-111365355
11	NRF1	chr13:111365047-111365621	Hela-S3	cervix:	n/a	chr13:111365268-111365279 chr13:111365381-111365395 chr13:111365378-111365392 chr13:111365380-111365391 chr13:111365381-111365390 chr13:111365381-111365392 chr13:111365268-111365282 chr13:111365383-111365392 chr13:111365401-111365412
12	TAF1	chr13:111364522-111366305	HepG2	liver:	n/a	n/a
13	POLR2A	chr13:111365004-111365409	GM12891	blood:	n/a	n/a
14	E2F6	chr13:111364476-111365829	H1-hESC	embryonic stem cell:	n/a	chr13:111365382-111365391 chr13:111365329-111365341 chr13:111365269-111365278 chr13:111365328-111365339 chr13:111365107-111365119
15	POLR2A	chr13:111364202-111366140	GM12892	blood:	n/a	n/a
16	PBX3	chr13:111364545-111365184	A549	lung:	n/a	n/a
17	MYC	chr13:111364295-111365947	K562	blood:	n/a	n/a
18	POLR2A	chr13:111363953-111368530	HUVEC	blood vessel:	n/a	n/a
19	MYC	chr13:111363970-111366061	K562	blood:	n/a	n/a
20	CHD2	chr13:111364541-111366170	Hela-S3	cervix:	n/a	n/a
21	HCFC1	chr13:111363852-111369388	Hela-S3	cervix:	n/a	n/a
22	CREB1	chr13:111364390-111366264	HepG2	liver:	n/a	n/a
23	POLR2A	chr13:111364294-111366283	HL-60	blood:	n/a	n/a
24	SP1	chr13:111364351-111366169	HCT-116	colon:	n/a	chr13:111364772-111364784 chr13:111364854-111364866 chr13:111364854-111364866 chr13:111365199-111365206 chr13:111364856-111364865 chr13:111365418-111365432 chr13:111364843-111364853
25	MAX	chr13:111364368-111366799	Hela-S3	cervix:	n/a	n/a
26	YY1	chr13:111364342-111366909	GM12878	blood:	n/a	chr13:111366739-111366750 chr13:111366153-111366167 chr13:111364850-111364864 chr13:111365888-111365902 chr13:111364766-111364777 chr13:111366158-111366167 chr13:111366434-111366443 chr13:111366378-111366387 chr13:111366156-111366167 chr13:111366149-111366163 chr13:111365908-111365919
27	UBTF	chr13:111364431-111365094	K562	blood:	n/a	n/a
28	SP1	chr13:111365061-111366022	A549	lung:	n/a	chr13:111365199-111365206 chr13:111365418-111365432
29	MYC	chr13:111363992-111368746	NB4	blood:	n/a	chr13:111367187-111367197
30	POLR2A	chr13:111363967-111366185	PBDE	blood:	n/a	n/a
31	TAF1	chr13:111364363-111366205	H1-hESC	embryonic stem cell:	n/a	n/a
32	YY1	chr13:111364303-111365767	SK-N-SH	brain:	n/a	chr13:111364850-111364864 chr13:111364766-111364777
33	MXI1	chr13:111364116-111366891	GM12878	blood:	n/a	n/a
34	POLR2A	chr13:111365002-111366107	K562	blood:	n/a	n/a
35	POLR2A	chr13:111364959-111365884	K562	blood:	n/a	n/a
36	POLR2A	chr13:111364014-111366258	K562	blood:	n/a	n/a
37	RUNX3	chr13:111363993-111365935	GM12878	blood:	n/a	n/a
38	ESRRA	chr13:111363902-111368825	GM12878	blood:	n/a	chr13:111367521-111367537 chr13:111368738-111368756 chr13:111366821-111366834
39	MAZ	chr13:111364464-111368802	K562	blood:	n/a	chr13:111367187-111367197
40	SIN3AK20	chr13:111364547-111365277	K562	blood:	n/a	n/a
41	ZC3H11A	chr13:111365021-111365221	K562	blood:	n/a	n/a
42	TFAP2C	chr13:111364424-111366619	Hela-S3	cervix:	n/a	chr13:111365911-111365926
43	CHD2	chr13:111364588-111366157	HepG2	liver:	n/a	n/a
44	POLR2A	chr13:111364317-111366056	GM12891	blood:	n/a	n/a
45	ELF1	chr13:111364445-111365829	HepG2	liver:	n/a	chr13:111364761-111364773 chr13:111364760-111364772 chr13:111365394-111365407 chr13:111365343-111365355
46	ELK1	chr13:111364372-111365827	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr13:111363649-111366395	SK-N-MC	brain:	n/a	n/a
48	NRF1	chr13:111365079-111366188	GM12878	blood:	n/a	chr13:111365268-111365279 chr13:111365381-111365395 chr13:111365378-111365392 chr13:111365380-111365391 chr13:111365381-111365390 chr13:111365988-111365999 chr13:111365381-111365392 chr13:111365268-111365282 chr13:111365383-111365392 chr13:111365401-111365412
49	POLR2A	chr13:111364608-111365925	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF1	chr13:111365018-111365907	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111365058-111365108	GM12892	blood:	n/a
2	chr13:111365058-111365108	HNPCEpiC	eye:	n/a
3	chr13:111365058-111365108	SAEC	small airway:	n/a
4	chr13:111365058-111365108	GM19239	blood:	n/a
5	chr13:111365058-111365108	AG09309	skin:	n/a
6	chr13:111365058-111365108	H1-hESC	embryonic stem cell:	embryo
7	chr13:111365058-111365108	HL-60	blood:	n/a
8	chr13:111365058-111365108	NHDF-neo	bronchial:	n/a
9	chr13:111365058-111365108	AG10803	skin:	n/a
10	chr13:111365058-111365108	K562	blood:	n/a
11	chr13:111365058-111365108	HEK293	kidney:	embryo
12	chr13:111365058-111365108	T-47D	breast:	n/a
13	chr13:111365058-111365108	HCPEpiC	choroid plexus:	n/a
14	chr13:111365058-111365108	Hepatocyte	liver:	n/a
15	chr13:111365058-111365108	HCT-116	colon:	n/a
16	chr13:111365058-111365108	MCF10A-Er-Src	breast:	n/a
17	chr13:111365058-111365108	ECC-1	luminal epithelium:	n/a
18	chr13:111365058-111365108	GM12891	blood:	n/a
19	chr13:111365058-111365108	U87	brain:	n/a
20	chr13:111365058-111365108	HEEpiC	esophagus:	n/a
21	chr13:111365058-111365108	HRE	kidney:	n/a
22	chr13:111365058-111365108	HIPEpiC	eye:	n/a
23	chr13:111365058-111365108	RPTEC	kidney:	n/a
24	chr13:111365058-111365108	HMEC	breast:	n/a
25	chr13:111365058-111365108	NB4	blood:	n/a
26	chr13:111365058-111365108	SK-N-MC	brain:	n/a
27	chr13:111365058-111365108	NHBE	bronchial:	n/a
28	chr13:111365058-111365108	PFSK-1	brain:	n/a
29	chr13:111365058-111365108	SK-N-SH_RA	brain:	n/a
30	chr13:111365058-111365108	MCF-7	breast:	n/a
31	chr13:111365058-111365108	AG04449	skin:	fetal
32	chr13:111365058-111365108	HepG2	liver:	n/a
33	chr13:111365058-111365108	Jurkat	blood:	n/a
34	chr13:111365058-111365108	AG09319	gingival:	n/a
35	chr13:111365058-111365108	NH-A	brain:	n/a
36	chr13:111365058-111365108	Caco-2	colon:	n/a
37	chr13:111365058-111365108	AoSMC	blood vessel:	n/a
38	chr13:111365058-111365108	IMR90	lung:	fetal
39	chr13:111365058-111365108	LNCaP	prostate:	n/a
40	chr13:111365058-111365108	A549	lung:	n/a
41	chr13:111365058-111365108	Hela-S3	cervix:	n/a
42	chr13:111365058-111365108	NT2-D1	testis:	n/a
43	chr13:111365058-111365108	HAEpiC	amniotic membrane:	n/a
44	chr13:111365058-111365108	ovcar-3	ovarian:	n/a
45	chr13:111365058-111365108	BJ	skin:	n/a
46	chr13:111365058-111365108	HPAEpiC	pulmonary alveolar:	n/a
47	chr13:111365058-111365108	SK-N-SH	brain:	n/a
48	chr13:111365058-111365108	CMK	blood:	n/a
49	chr13:111365058-111365108	HRCEpiC	kidney:	n/a
50	chr13:111365058-111365108	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111364046..111369200-chr13:111563217..111572060,23	MCF-7	breast:
2	chr1:231376179..231376987-chr13:111364982..111365721,2	Hela-S3	cervix:
3	chr13:111364947..111365468-chr5:102090602..102091287,2	Hela-S3	cervix:
4	chr13:111064820..111066912-chr13:111364451..111367008,2	K562	blood:
5	chr13:111362764..111370771-chr13:111560775..111570046,21	K562	blood:
6	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:
7	chr11:82782870..82783421-chr13:111364856..111365390,2	Hela-S3	cervix:
8	chr13:111303184..111305252-chr13:111363759..111366267,2	MCF-7	breast:
9	chr1:11967976..11969228-chr13:111365010..111366093,4	Hela-S3	cervix:
10	chr13:111362818..111369538-chr13:111519409..111528258,26	K562	blood:
11	chr13:111334321..111336628-chr13:111364897..111367415,3	MCF-7	breast:
12	chr13:111294769..111302902-chr13:111363368..111369699,14	K562	blood:
13	chr13:111266965..111271727-chr13:111364973..111369025,9	MCF-7	breast:
14	chr13:92000031..92002100-chr13:111364097..111366110,2	K562	blood:
15	chr13:111362370..111368494-chr13:111564438..111569891,17	K562	blood:
16	chr13:111364849..111366045-chr14:75745090..75745787,3	Hela-S3	cervix:
17	chr13:111364224..111365217-chr3:57678487..57679047,2	Hela-S3	cervix:
18	chr13:111158284..111162693-chr13:111363847..111368622,9	K562	blood:
19	chr13:111303282..111307425-chr13:111364172..111367673,6	MCF-7	breast:
20	chr13:111211605..111215710-chr13:111363534..111368936,10	MCF-7	breast:
21	chr13:111365018..111365816-chr2:88354926..88355799,2	Hela-S3	cervix:
22	chr11:72281234..72282064-chr13:111364772..111365743,2	Hela-S3	cervix:
23	chr13:111364121..111365327-chr16:30076651..30077521,3	Hela-S3	cervix:
24	chr13:111328800..111330834-chr13:111364440..111366788,2	K562	blood:
25	chr13:111265756..111270693-chr13:111363417..111370660,10	K562	blood:
26	chr13:110436751..110439259-chr13:111364404..111367804,3	K562	blood:
27	chr13:111267596..111269197-chr13:111364131..111366094,2	K562	blood:
28	chr13:111365013..111366639-chr14:50357732..50360500,2	MCF-7	breast:
29	chr13:111364720..111365557-chrX:70331097..70331861,2	NB4	blood:
30	chr13:111364968..111365776-chr20:30194978..30195647,2	Hela-S3	cervix:
31	chr13:111364730..111365670-chr3:49977226..49977814,2	Hela-S3	cervix:
32	chr13:111364810..111365745-chr6:86352411..86352955,2	Hela-S3	cervix:
33	chr13:111364470..111369495-chr13:111465123..111470179,9	MCF-7	breast:
34	chr13:111363080..111368100-chr13:111564424..111568464,9	MCF-7	breast:
35	chr13:111265515..111270086-chr13:111364987..111368051,5	MCF-7	breast:
36	chr13:111335461..111337308-chr13:111363462..111365716,2	MCF-7	breast:
37	chr13:111289947..111291840-chr13:111364201..111367983,3	MCF-7	breast:
38	chr13:111364196..111369437-chr13:111520146..111525538,15	K562	blood:
39	chr13:111363576..111369085-chr13:111458761..111470393,19	MCF-7	breast:

Variant related genes	Relation type
CARS2	TF binding region
ING1	TF binding region
ING1	CpG island
CARS2	CpG island
ENSG00000264395	Chromatin interaction
ENSG00000213995	Chromatin interaction
ENSG00000255874	Chromatin interaction
ENSG00000147168	Chromatin interaction
ENSG00000185950	Chromatin interaction
ENSG00000143633	Chromatin interaction
ENSG00000238629	Chromatin interaction
ENSG00000135316	Chromatin interaction
ENSG00000116906	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000139832	Chromatin interaction
ENSG00000227467	Chromatin interaction
ENSG00000134871	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000170345	Chromatin interaction
ENSG00000088448	Chromatin interaction
ENSG00000246067	Chromatin interaction
ENSG00000004534	Chromatin interaction
ENSG00000259831	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000172086	Chromatin interaction
ENSG00000174839	Chromatin interaction
ENSG00000232814	Chromatin interaction
ENSG00000165527	Chromatin interaction
ENSG00000241933	Chromatin interaction
ENSG00000255831	Chromatin interaction
ENSG00000145730	Chromatin interaction
ENSG00000137502	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

No data

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	chr13:111363800-111367000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr13:111363800-111368600	Active TSS	Fetal Brain Female	brain
9	chr13:111363800-111368800	Bivalent/Poised TSS	HepG2	liver
10	chr13:111363800-111369000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:111363800-111369000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:111363800-111369400	Active TSS	Right Ventricle	heart
13	chr13:111363800-111369600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:111363800-111369800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:111363800-111369800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr13:111363800-111369800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr13:111363800-111369800	Active TSS	Psoas Muscle	Psoas
18	chr13:111363800-111370200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr13:111363800-111370400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:111363800-111370600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:111363800-111370800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:111364000-111365400	Active TSS	Right Atrium	heart
23	chr13:111364000-111365800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr13:111364000-111366600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr13:111364000-111366600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:111364000-111367600	Active TSS	Fetal Heart	heart
27	chr13:111364000-111369000	Active TSS	Esophagus	oesophagus
28	chr13:111364000-111369200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr13:111364000-111369200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:111364000-111369200	Active TSS	Fetal Muscle Trunk	muscle
31	chr13:111364000-111369200	Active TSS	Left Ventricle	heart
32	chr13:111364000-111369600	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr13:111364000-111370200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr13:111364000-111370200	Active TSS	Colonic Mucosa	Colon
35	chr13:111364000-111370200	Active TSS	Fetal Intestine Large	intestine
36	chr13:111364000-111370200	Active TSS	Fetal Intestine Small	intestine
37	chr13:111364000-111370400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr13:111364200-111365200	Active TSS	Fetal Brain Male	brain
39	chr13:111364200-111365800	Active TSS	Stomach Mucosa	stomach
40	chr13:111364200-111366400	Active TSS	Brain Germinal Matrix	brain
41	chr13:111364200-111368600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr13:111364200-111368600	Active TSS	Liver	Liver
43	chr13:111364200-111368600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr13:111364200-111368600	Active TSS	Thymus	Thymus
45	chr13:111364200-111368800	Active TSS	Brain Anterior Caudate	brain
46	chr13:111364200-111368800	Active TSS	Fetal Kidney	kidney
47	chr13:111364200-111368800	Active TSS	Placenta Amnion	Placenta Amnion
48	chr13:111364200-111368800	Active TSS	Small Intestine	intestine
49	chr13:111364200-111369000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:111364200-111369000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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