Variant report

Variant	rs2069906
Chromosome Location	chr2:128176677-128176678
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	HEY1	chr2:128175747-128177435	HepG2	liver:	n/a	n/a
2	HDAC2	chr2:128175654-128176798	HepG2	liver:	n/a	n/a
3	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
4	FOXA1	chr2:128175639-128177255	HepG2	liver:	n/a	n/a
5	RAD21	chr2:128175711-128176725	HepG2	liver:	n/a	chr2:128176113-128176126 chr2:128176211-128176224 chr2:128176524-128176533
6	TAF1	chr2:128175758-128176704	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:128175737-128177495	HepG2	liver:	n/a	n/a
8	TBP	chr2:128175790-128177251	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:128175695-128176789	HepG2	liver:	n/a	n/a
10	HNF4A	chr2:128176380-128176693	HepG2	liver:	n/a	n/a
11	MYBL2	chr2:128175595-128177696	HepG2	liver:	n/a	n/a
12	USF2	chr2:128176311-128176726	HepG2	liver:	n/a	n/a
13	CEBPD	chr2:128175744-128176733	HepG2	liver:	n/a	n/a
14	NFIC	chr2:128175695-128176874	HepG2	liver:	n/a	n/a
15	MBD4	chr2:128175663-128177420	HepG2	liver:	n/a	n/a
16	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
17	RCOR1	chr2:128176522-128177413	IMR90	lung:	n/a	n/a
18	SP1	chr2:128175662-128176731	HepG2	liver:	n/a	n/a
19	TEAD4	chr2:128175515-128177422	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:128175249-128180723	HepG2	liver:	n/a	n/a
21	MXI1	chr2:128175753-128176714	HepG2	liver:	n/a	chr2:128176451-128176460 chr2:128176449-128176458 chr2:128176451-128176460 chr2:128176449-128176458
22	POLR2A	chr2:128175695-128177493	HepG2	liver:	n/a	n/a
23	NFIC	chr2:128175606-128177482	HepG2	liver:	n/a	n/a
24	YY1	chr2:128175737-128176947	HepG2	liver:	n/a	chr2:128176612-128176628 chr2:128176616-128176625
25	MBD4	chr2:128175614-128177601	HepG2	liver:	n/a	n/a
26	POLR2A	chr2:128175672-128177814	HepG2	liver:	n/a	n/a
27	FOXA2	chr2:128175724-128176997	HepG2	liver:	n/a	n/a
28	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
29	TAF1	chr2:128175751-128176818	HepG2	liver:	n/a	n/a
30	YY1	chr2:128175741-128176783	HepG2	liver:	n/a	chr2:128176612-128176628 chr2:128176616-128176625
31	RCOR1	chr2:128175765-128176986	HepG2	liver:	n/a	n/a
32	EP300	chr2:128175800-128176773	HepG2	liver:	n/a	n/a
33	BHLHE40	chr2:128175803-128176744	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:128176352-128176978	HepG2	liver:	n/a	n/a
35	HEY1	chr2:128175687-128177560	HepG2	liver:	n/a	n/a
36	ZBTB7A	chr2:128175768-128176703	HepG2	liver:	n/a	n/a
37	HNF4G	chr2:128175757-128176725	HepG2	liver:	n/a	chr2:128176274-128176286 chr2:128176273-128176286 chr2:128176271-128176286 chr2:128176274-128176286 chr2:128176190-128176204 chr2:128176273-128176286
38	MYBL2	chr2:128175540-128177606	HepG2	liver:	n/a	n/a
39	SMC3	chr2:128175808-128176956	HepG2	liver:	n/a	chr2:128176525-128176533 chr2:128176491-128176498
40	HNF4A	chr2:128175824-128177441	HepG2	liver:	n/a	chr2:128176274-128176286 chr2:128176273-128176286 chr2:128176274-128176286 chr2:128176190-128176204 chr2:128176273-128176286
41	JUND	chr2:128175874-128176701	HepG2	liver:	n/a	n/a
42	FOXA1	chr2:128175660-128176907	HepG2	liver:	n/a	n/a
43	RAD21	chr2:128175729-128176711	HepG2	liver:	n/a	chr2:128176113-128176126 chr2:128176211-128176224 chr2:128176524-128176533
44	RFX5	chr2:128176488-128176739	HepG2	liver:	n/a	n/a
45	EP300	chr2:128175656-128176730	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: 0)

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

rs_ID	r²[population]
rs10803586	0.94[EUR][1000 genomes]
rs2069901	0.85[ASN][1000 genomes]
rs2069923	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4662728	0.90[ASN][1000 genomes]
rs55826634	0.90[ASN][1000 genomes]
rs59046840	0.90[ASN][1000 genomes]
rs61131370	0.97[EUR][1000 genomes]
rs6716856	0.87[EUR][1000 genomes]
rs6745666	0.87[EUR][1000 genomes]
rs6748999	1.00[CEU][hapmap]
rs777567	0.87[EUR][1000 genomes]
rs878461	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs908787	0.98[ASN][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

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	chr2:128175600-128177800	Weak transcription	Fetal Thymus	thymus
9	chr2:128175800-128176800	Enhancers	Gastric	stomach
10	chr2:128175800-128177200	Flanking Active TSS	Liver	Liver
11	chr2:128176200-128177000	Flanking Bivalent TSS/Enh	HepG2	liver
12	chr2:128176200-128178000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:128176200-128179800	Weak transcription	Dnd41	blood
14	chr2:128176400-128180400	Weak transcription	Pancreas	Pancrea

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