Variant report

Variant	rs878461
Chromosome Location	chr2:128173417-128173418
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	YY1	chr2:128173396-128173796	K562	blood:	n/a	chr2:128173622-128173636 chr2:128173625-128173639
2	CREB1	chr2:128173413-128173846	A549	lung:	n/a	n/a
3	BACH1	chr2:128173202-128173760	H1-hESC	embryonic stem cell:	n/a	n/a
4	USF1	chr2:128173181-128173745	H1-hESC	embryonic stem cell:	n/a	chr2:128173622-128173638
5	RUNX3	chr2:128173307-128173765	GM12878	blood:	n/a	n/a
6	MYC	chr2:128173395-128173704	MCF10A-Er-Src	breast:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
7	RAD21	chr2:128173306-128173864	A549	lung:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
8	CTCF	chr2:128173084-128173906	H1-hESC	embryonic stem cell:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
9	ATF3	chr2:128173411-128173696	K562	blood:	n/a	chr2:128173619-128173628
10	GTF2F1	chr2:128173320-128173659	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr2:128173388-128173840	ECC-1	luminal epithelium:	n/a	chr2:128173624-128173633 chr2:128173607-128173623
12	E2F6	chr2:128173363-128173840	K562	blood:	n/a	n/a
13	USF1	chr2:128173306-128173693	A549	lung:	n/a	chr2:128173622-128173638
14	RAD21	chr2:128173220-128173968	ECC-1	luminal epithelium:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
15	TEAD4	chr2:128173376-128173771	K562	blood:	n/a	n/a
16	HMGN3	chr2:128173381-128174003	K562	blood:	n/a	n/a
17	E2F6	chr2:128173346-128173797	K562	blood:	n/a	n/a
18	RAD21	chr2:128173300-128173901	MCF-7	breast:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
19	CTCF	chr2:128173380-128173930	MCF-7	breast:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
20	MAZ	chr2:128173270-128173780	K562	blood:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
21	SP4	chr2:128173180-128173738	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr2:128173061-128174069	A549	lung:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
23	RAD21	chr2:128173359-128173902	ECC-1	luminal epithelium:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
24	MXI1	chr2:128173044-128174206	SK-N-SH	brain:	n/a	n/a
25	USF1	chr2:128173349-128173721	A549	lung:	n/a	chr2:128173622-128173638
26	RAD21	chr2:128173288-128173895	H1-hESC	embryonic stem cell:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
27	HCFC1	chr2:128173351-128173776	K562	blood:	n/a	n/a
28	E2F6	chr2:128173185-128173886	H1-hESC	embryonic stem cell:	n/a	n/a
29	TBP	chr2:128173241-128173813	H1-hESC	embryonic stem cell:	n/a	n/a
30	TEAD4	chr2:128173270-128173798	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr2:128173398-128174007	GM12878	blood:	n/a	n/a
32	MYC	chr2:128173340-128173816	K562	blood:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
33	MYC	chr2:128173349-128173759	K562	blood:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
34	RAD21	chr2:128173373-128173884	A549	lung:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
35	USF1	chr2:128173301-128173843	ECC-1	luminal epithelium:	n/a	chr2:128173622-128173638
36	RAD21	chr2:128173194-128174030	H1-hESC	embryonic stem cell:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
37	KAP1	chr2:128173331-128173774	U2OS	brain:	n/a	n/a
38	MAX	chr2:128173358-128173795	K562	blood:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
39	TCF12	chr2:128173367-128173980	A549	lung:	n/a	chr2:128173642-128173649
40	BCLAF1	chr2:128173386-128173871	GM12878	blood:	n/a	chr2:128173613-128173626
41	CTCF	chr2:128173290-128173974	K562	blood:	n/a	chr2:128173626-128173639 chr2:128173624-128173642
42	RAD21	chr2:128173195-128174065	HCT-116	colon:	n/a	chr2:128173818-128173828 chr2:128173625-128173638
43	MAX	chr2:128173308-128173740	H1-hESC	embryonic stem cell:	n/a	chr2:128173535-128173542 chr2:128173536-128173545
44	CBX3	chr2:128173265-128173839	K562	blood:	n/a	n/a
45	USF1	chr2:128173315-128173794	K562	blood:	n/a	chr2:128173622-128173638
46	GABPA	chr2:128173284-128173931	H1-hESC	embryonic stem cell:	n/a	chr2:128173348-128173357
47	CTBP2	chr2:128173356-128174131	H1-hESC	embryonic stem cell:	n/a	n/a
48	SMC3	chr2:128172992-128173996	SK-N-SH	brain:	n/a	chr2:128173626-128173640
49	POLR2A	chr2:128173311-128173894	ECC-1	luminal epithelium:	n/a	n/a
50	MAX	chr2:128173342-128173724	K562	blood:	n/a	chr2:128173535-128173542 chr2:128173536-128173545

No.	Distal block	Cell Line	Cell type
1	chr2:128167645..128171047-chr2:128172725..128175521,4	MCF-7	breast:
2	chr2:128081908..128082904-chr2:128173401..128174161,4	K562	blood:
3	chr2:128171833..128175442-chr2:128179888..128182308,3	MCF-7	breast:
4	chr2:128172111..128174190-chr2:128184627..128187597,2	MCF-7	breast:

Variant related genes	Relation type
PROC	TF binding region
ENSG00000115718	Chromatin interaction
ENSG00000264075	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10169028	0.95[EUR][1000 genomes]
rs10178188	0.84[EUR][1000 genomes]
rs10195774	0.90[EUR][1000 genomes]
rs10206392	0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs10211382	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[EUR][1000 genomes]
rs10221754	0.90[EUR][1000 genomes]
rs10439213	0.84[EUR][1000 genomes]
rs10439214	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes]
rs10451530	0.90[EUR][1000 genomes]
rs1128974	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs1129121	0.90[EUR][1000 genomes]
rs12617698	1.00[MEX][hapmap]
rs13406313	0.88[EUR][1000 genomes]
rs13421256	0.84[EUR][1000 genomes]
rs13424947	0.90[EUR][1000 genomes]
rs13429050	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs13431911	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs1607437	0.88[EUR][1000 genomes]
rs2069901	0.83[ASN][1000 genomes]
rs2069906	1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[ASN][1000 genomes]
rs2069923	0.88[ASN][1000 genomes]
rs2271026	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs3755310	0.90[EUR][1000 genomes]
rs4150448	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4150487	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4150507	0.90[EUR][1000 genomes]
rs4150512	1.00[CEU][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4150515	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[EUR][1000 genomes]
rs4662726	0.81[ASN][1000 genomes]
rs4662728	0.88[ASN][1000 genomes]
rs55826634	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56276844	0.95[EUR][1000 genomes]
rs57011781	0.90[EUR][1000 genomes]
rs57547812	0.93[EUR][1000 genomes]
rs57878090	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59046840	0.88[ASN][1000 genomes]
rs59283013	0.90[EUR][1000 genomes]
rs59306090	0.93[EUR][1000 genomes]
rs6710541	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6711086	1.00[CEU][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727155	0.88[EUR][1000 genomes]
rs6740067	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6740368	0.84[EUR][1000 genomes]
rs6743815	0.93[EUR][1000 genomes]
rs6750648	0.84[EUR][1000 genomes]
rs6753288	0.92[CHD][hapmap];0.81[ASN][1000 genomes]
rs72956480	0.95[EUR][1000 genomes]
rs72956485	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72964335	0.82[EUR][1000 genomes]
rs72964338	0.90[EUR][1000 genomes]
rs72964344	0.90[EUR][1000 genomes]
rs72964352	0.90[EUR][1000 genomes]
rs72964361	0.90[EUR][1000 genomes]
rs7564189	0.90[EUR][1000 genomes]
rs7584829	0.90[EUR][1000 genomes]
rs7586961	0.84[EUR][1000 genomes]
rs7599210	0.92[CHD][hapmap]
rs908787	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9808452	0.88[EUR][1000 genomes]

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128170200-128173800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:128171200-128174200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:128171400-128173800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:128171400-128174000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:128171800-128173600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:128171800-128173600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:128172000-128173600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:128172200-128173800	Enhancers	HSMM	muscle
9	chr2:128172400-128173600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:128172400-128173600	Enhancers	Placenta	Placenta
11	chr2:128172400-128174000	Enhancers	Lung	lung
12	chr2:128172400-128174800	Enhancers	Spleen	Spleen
13	chr2:128172800-128173800	Weak transcription	Gastric	stomach
14	chr2:128172800-128176800	Weak transcription	NHDF-Ad	bronchial
15	chr2:128173000-128173600	Weak transcription	HSMMtube	muscle
16	chr2:128173000-128173800	Enhancers	HepG2	liver
17	chr2:128173000-128174200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:128173000-128174200	Enhancers	Small Intestine	intestine
19	chr2:128173000-128174800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:128173200-128173600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:128173200-128173600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:128173200-128173600	Flanking Active TSS	Colonic Mucosa	Colon
23	chr2:128173200-128173600	Active TSS	Rectal Smooth Muscle	rectum
24	chr2:128173200-128173600	Flanking Active TSS	Thymus	Thymus
25	chr2:128173200-128173800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:128173200-128174000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:128173200-128174000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
28	chr2:128173200-128174000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:128173200-128174000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:128173200-128174000	Flanking Active TSS	A549	lung
31	chr2:128173200-128174200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr2:128173200-128174200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:128173200-128174200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:128173200-128174200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:128173200-128174200	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr2:128173200-128174200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:128173200-128174200	Flanking Active TSS	HMEC	breast
39	chr2:128173200-128174200	Flanking Active TSS	NHEK	skin
40	chr2:128173200-128174400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr2:128173200-128174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:128173200-128174400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:128173200-128174400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr2:128173200-128174600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr2:128173200-128174600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr2:128173200-128174600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:128173200-128174800	Flanking Active TSS	Liver	Liver
48	chr2:128173400-128173600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr2:128173400-128173600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:128173400-128173600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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