Variant report

Variant	rs41280570
Chromosome Location	chr2:128176230-128176231
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	CTCF	chr2:128176180-128176330	HL-60	blood:	n/a	n/a
2	CTCF	chr2:128176100-128176250	HEK293	kidney:	n/a	n/a
3	RAD21	chr2:128176064-128176276	K562	blood:	n/a	chr2:128176113-128176126 chr2:128176211-128176224
4	HEY1	chr2:128175747-128177435	HepG2	liver:	n/a	n/a
5	HDAC2	chr2:128175654-128176798	HepG2	liver:	n/a	n/a
6	CTCF	chr2:128176140-128176290	HepG2	liver:	n/a	n/a
7	MAFK	chr2:128175680-128176609	HepG2	liver:	n/a	chr2:128176345-128176360
8	MAX	chr2:128175811-128176712	HepG2	liver:	n/a	chr2:128176450-128176460 chr2:128176449-128176459 chr2:128176449-128176460 chr2:128176253-128176262 chr2:128176450-128176460 chr2:128176448-128176461 chr2:128176448-128176461 chr2:128176449-128176460 chr2:128176450-128176459 chr2:128176449-128176460 chr2:128176448-128176461 chr2:128176449-128176459 chr2:128176445-128176464
9	FOXA1	chr2:128175639-128177255	HepG2	liver:	n/a	n/a
10	RAD21	chr2:128175711-128176725	HepG2	liver:	n/a	chr2:128176113-128176126 chr2:128176211-128176224 chr2:128176524-128176533
11	CTCF	chr2:128176160-128176310	GM12871	blood:	n/a	n/a
12	TAF1	chr2:128175758-128176704	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:128175737-128177495	HepG2	liver:	n/a	n/a
14	CTCF	chr2:128176225-128176250	GM10266	blood:	n/a	n/a
15	TBP	chr2:128175790-128177251	HepG2	liver:	n/a	n/a
16	CTCF	chr2:128176160-128176310	MCF-7	breast:	n/a	n/a
17	POLR2A	chr2:128175695-128176789	HepG2	liver:	n/a	n/a
18	CHD2	chr2:128175791-128176524	HepG2	liver:	n/a	n/a
19	CTCF	chr2:128176068-128176387	K562	blood:	n/a	n/a
20	MYBL2	chr2:128175595-128177696	HepG2	liver:	n/a	n/a
21	CTCF	chr2:128176140-128176295	K562	blood:	n/a	n/a
22	CTCF	chr2:128176069-128176341	K562	blood:	n/a	n/a
23	CEBPD	chr2:128175744-128176733	HepG2	liver:	n/a	n/a
24	NFIC	chr2:128175695-128176874	HepG2	liver:	n/a	n/a
25	MBD4	chr2:128175663-128177420	HepG2	liver:	n/a	n/a
26	MAZ	chr2:128175772-128176499	HepG2	liver:	n/a	chr2:128176450-128176460 chr2:128176449-128176459 chr2:128176449-128176460 chr2:128176253-128176262 chr2:128176450-128176460 chr2:128176448-128176461 chr2:128176448-128176461 chr2:128176449-128176460 chr2:128176450-128176459 chr2:128176449-128176460 chr2:128176448-128176461 chr2:128176449-128176459 chr2:128176445-128176464
27	CTCF	chr2:128176160-128176310	HepG2	liver:	n/a	n/a
28	MAX	chr2:128175611-128177655	HepG2	liver:	n/a	chr2:128176450-128176460 chr2:128176449-128176459 chr2:128176449-128176460 chr2:128176253-128176262 chr2:128176450-128176460 chr2:128176448-128176461 chr2:128176448-128176461 chr2:128176449-128176460 chr2:128176450-128176459 chr2:128176449-128176460 chr2:128176448-128176461 chr2:128176449-128176459 chr2:128176445-128176464
29	SP1	chr2:128175662-128176731	HepG2	liver:	n/a	n/a
30	TEAD4	chr2:128175515-128177422	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:128175249-128180723	HepG2	liver:	n/a	n/a
32	MXI1	chr2:128175753-128176714	HepG2	liver:	n/a	chr2:128176451-128176460 chr2:128176449-128176458 chr2:128176451-128176460 chr2:128176449-128176458
33	POLR2A	chr2:128175695-128177493	HepG2	liver:	n/a	n/a
34	NFIC	chr2:128175606-128177482	HepG2	liver:	n/a	n/a
35	YY1	chr2:128175737-128176947	HepG2	liver:	n/a	chr2:128176612-128176628 chr2:128176616-128176625
36	MBD4	chr2:128175614-128177601	HepG2	liver:	n/a	n/a
37	CTCF	chr2:128176177-128176237	GM19239	blood:	n/a	n/a
38	POLR2A	chr2:128175672-128177814	HepG2	liver:	n/a	n/a
39	USF1	chr2:128176164-128176635	HepG2	liver:	n/a	n/a
40	CTCF	chr2:128176069-128176281	K562	blood:	n/a	n/a
41	FOXA2	chr2:128175724-128176997	HepG2	liver:	n/a	n/a
42	MYC	chr2:128175784-128176829	HepG2	liver:	n/a	chr2:128176450-128176460 chr2:128176449-128176459 chr2:128176449-128176460 chr2:128176253-128176262 chr2:128176450-128176460 chr2:128176448-128176461 chr2:128176448-128176461 chr2:128176449-128176460 chr2:128176450-128176459 chr2:128176449-128176460 chr2:128176448-128176461 chr2:128176449-128176459 chr2:128176445-128176464
43	TAF1	chr2:128175751-128176818	HepG2	liver:	n/a	n/a
44	YY1	chr2:128175741-128176783	HepG2	liver:	n/a	chr2:128176612-128176628 chr2:128176616-128176625
45	CTCF	chr2:128176196-128176236	MCF-7	breast:	n/a	n/a
46	RFX5	chr2:128175768-128176256	HepG2	liver:	n/a	n/a
47	RAD21	chr2:128176169-128176257	H1-hESC	embryonic stem cell:	n/a	chr2:128176211-128176224
48	ZBTB7A	chr2:128175792-128176611	HepG2	liver:	n/a	n/a
49	CTCF	chr2:128176158-128176268	MCF-7	breast:	n/a	n/a
50	RCOR1	chr2:128175765-128176986	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128050076..128053017-chr2:128173952..128176764,3	MCF-7	breast:

Variant related genes	Relation type
PROC	TF binding region
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10209483	0.80[EUR][1000 genomes]
rs11679414	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11683986	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11691088	0.81[AFR][1000 genomes]
rs13030463	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1568278	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2069895	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2069898	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2069902	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2069904	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2069919	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5937	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6430938	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583036	chr2:128173819-128183914	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41280570	ERCC3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128172800-128176800	Weak transcription	NHDF-Ad	bronchial
2	chr2:128174000-128177800	Enhancers	A549	lung
3	chr2:128174000-128180600	Weak transcription	Right Atrium	heart
4	chr2:128174400-128176800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:128174800-128180400	Weak transcription	Spleen	Spleen
6	chr2:128175000-128177200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:128175000-128180000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:128175600-128177800	Weak transcription	Fetal Thymus	thymus
9	chr2:128175800-128176400	Enhancers	Pancreas	Pancrea
10	chr2:128175800-128176800	Enhancers	Gastric	stomach
11	chr2:128175800-128177200	Flanking Active TSS	Liver	Liver
12	chr2:128176200-128177000	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr2:128176200-128178000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:128176200-128179800	Weak transcription	Dnd41	blood

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