Variant report

Variant	rs2069905
Chromosome Location	chr2:128176094-128176095
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	RAD21	chr2:128176064-128176276	K562	blood:	n/a	chr2:128176113-128176126 chr2:128176211-128176224
2	HEY1	chr2:128175747-128177435	HepG2	liver:	n/a	n/a
3	HDAC2	chr2:128175654-128176798	HepG2	liver:	n/a	n/a
4	MAFK	chr2:128175680-128176609	HepG2	liver:	n/a	chr2:128176345-128176360
5	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
6	FOXA1	chr2:128175639-128177255	HepG2	liver:	n/a	n/a
7	RAD21	chr2:128175711-128176725	HepG2	liver:	n/a	chr2:128176113-128176126 chr2:128176211-128176224 chr2:128176524-128176533
8	TAF1	chr2:128175758-128176704	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:128175737-128177495	HepG2	liver:	n/a	n/a
10	TBP	chr2:128175790-128177251	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:128175695-128176789	HepG2	liver:	n/a	n/a
12	NR3C1	chr2:128175707-128176158	A549	lung:	n/a	chr2:128175890-128175916
13	MAFF	chr2:128175790-128176217	HepG2	liver:	n/a	n/a
14	CHD2	chr2:128175791-128176524	HepG2	liver:	n/a	n/a
15	CTCF	chr2:128176068-128176387	K562	blood:	n/a	n/a
16	MYBL2	chr2:128175595-128177696	HepG2	liver:	n/a	n/a
17	CTCF	chr2:128176069-128176341	K562	blood:	n/a	n/a
18	CEBPD	chr2:128175744-128176733	HepG2	liver:	n/a	n/a
19	NFIC	chr2:128175695-128176874	HepG2	liver:	n/a	n/a
20	MBD4	chr2:128175663-128177420	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:128175845-128176121	HepG2	liver:	n/a	n/a
22	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
23	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
24	SP1	chr2:128175662-128176731	HepG2	liver:	n/a	n/a
25	TEAD4	chr2:128175515-128177422	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:128175249-128180723	HepG2	liver:	n/a	n/a
27	MXI1	chr2:128175753-128176714	HepG2	liver:	n/a	chr2:128176451-128176460 chr2:128176449-128176458 chr2:128176451-128176460 chr2:128176449-128176458
28	POLR2A	chr2:128175695-128177493	HepG2	liver:	n/a	n/a
29	NFIC	chr2:128175606-128177482	HepG2	liver:	n/a	n/a
30	YY1	chr2:128175737-128176947	HepG2	liver:	n/a	chr2:128176612-128176628 chr2:128176616-128176625
31	MBD4	chr2:128175614-128177601	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:128175672-128177814	HepG2	liver:	n/a	n/a
33	NR3C1	chr2:128175703-128176182	A549	lung:	n/a	chr2:128175890-128175916
34	CTCF	chr2:128176069-128176281	K562	blood:	n/a	n/a
35	FOXA2	chr2:128175724-128176997	HepG2	liver:	n/a	n/a
36	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
37	TAF1	chr2:128175751-128176818	HepG2	liver:	n/a	n/a
38	YY1	chr2:128175741-128176783	HepG2	liver:	n/a	chr2:128176612-128176628 chr2:128176616-128176625
39	RFX5	chr2:128175768-128176256	HepG2	liver:	n/a	n/a
40	ZBTB7A	chr2:128175792-128176611	HepG2	liver:	n/a	n/a
41	RCOR1	chr2:128175765-128176986	HepG2	liver:	n/a	n/a
42	CEBPB	chr2:128176023-128176446	HepG2	liver:	n/a	n/a
43	EP300	chr2:128175800-128176773	HepG2	liver:	n/a	n/a
44	FOXA1	chr2:128175639-128176306	HepG2	liver:	n/a	n/a
45	BHLHE40	chr2:128175803-128176744	HepG2	liver:	n/a	n/a
46	REST	chr2:128175731-128176465	HepG2	liver:	n/a	n/a
47	HEY1	chr2:128175687-128177560	HepG2	liver:	n/a	n/a
48	ZBTB7A	chr2:128175768-128176703	HepG2	liver:	n/a	n/a
49	CTCF	chr2:128176080-128176230	HCFaa	heart:	n/a	n/a
50	POLR2A	chr2:128175857-128176609	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: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4150443	1.00[YRI][hapmap]
rs4150483	1.00[YRI][hapmap]
rs4150485	1.00[YRI][hapmap]

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

No data

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	chr2:128175200-128176200	Enhancers	Dnd41	blood
9	chr2:128175600-128177800	Weak transcription	Fetal Thymus	thymus
10	chr2:128175800-128176200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:128175800-128176400	Enhancers	Pancreas	Pancrea
12	chr2:128175800-128176800	Enhancers	Gastric	stomach
13	chr2:128175800-128177200	Flanking Active TSS	Liver	Liver
14	chr2:128176000-128176200	Active TSS	HepG2	liver

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