Variant report

Variant	rs555835265
Chromosome Location	chr1:226374692-226374693
allele	A/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	POLR2A	chr1:226373906-226374950	GM18951	blood:	n/a	n/a
2	GABPA	chr1:226374079-226374858	HL-60	blood:	n/a	n/a
3	POLR2A	chr1:226374160-226374977	HepG2	liver:	n/a	n/a
4	KAP1	chr1:226374202-226374898	HEK293	kidney:	n/a	n/a
5	CREB1	chr1:226374021-226374790	A549	lung:	n/a	n/a
6	YY1	chr1:226373761-226374906	K562	blood:	n/a	chr1:226374062-226374073 chr1:226374598-226374609 chr1:226374048-226374059 chr1:226374368-226374380
7	TAF1	chr1:226374158-226374865	GM12878	blood:	n/a	n/a
8	CTCF	chr1:226374640-226374790	GM12878	blood:	n/a	chr1:226374697-226374706 chr1:226374697-226374710
9	CHD2	chr1:226373818-226374901	Hela-S3	cervix:	n/a	n/a
10	ELK4	chr1:226374331-226374759	Hela-S3	cervix:	n/a	chr1:226374463-226374474 chr1:226374423-226374434
11	KAP1	chr1:226374329-226374706	U2OS	brain:	n/a	n/a
12	SIN3AK20	chr1:226373718-226374727	PANC-1	pancreas:	n/a	n/a
13	TCF12	chr1:226373791-226375055	A549	lung:	n/a	n/a
14	MAX	chr1:226373833-226374858	K562	blood:	n/a	chr1:226374543-226374552
15	POLR2A	chr1:226374219-226375019	U87	brain:	n/a	n/a
16	REST	chr1:226373693-226375096	H1-neurons	neurons:	n/a	chr1:226374665-226374685
17	CTCF	chr1:226374620-226374770	GM12873	blood:	n/a	chr1:226374697-226374706 chr1:226374697-226374710
18	POLR2A	chr1:226374136-226374906	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr1:226374680-226374830	SAEC	small airway:	n/a	chr1:226374697-226374706 chr1:226374697-226374710
20	GABPA	chr1:226374076-226374926	SK-N-SH	brain:	n/a	n/a
21	ZMIZ1	chr1:226373910-226375153	K562	blood:	n/a	n/a
22	HCFC1	chr1:226373027-226375082	Hela-S3	cervix:	n/a	n/a
23	ELF1	chr1:226373733-226374945	GM12878	blood:	n/a	chr1:226374424-226374437
24	POLR2A	chr1:226373916-226374851	MCF-7	breast:	n/a	n/a
25	ZNF143	chr1:226374307-226374906	H1-hESC	embryonic stem cell:	n/a	chr1:226374597-226374615
26	CEBPD	chr1:226374159-226374907	HepG2	liver:	n/a	n/a
27	CCNT2	chr1:226373942-226374826	K562	blood:	n/a	chr1:226374067-226374076 chr1:226374702-226374711 chr1:226374600-226374609 chr1:226374520-226374529
28	POLR2A	chr1:226373876-226374960	GM19099	blood:	n/a	n/a
29	NFIC	chr1:226374227-226374855	GM12878	blood:	n/a	n/a
30	MAZ	chr1:226373365-226375027	IMR90	lung:	n/a	chr1:226374543-226374552
31	MAX	chr1:226374260-226374741	HepG2	liver:	n/a	chr1:226374543-226374552
32	NFIC	chr1:226374222-226374760	HepG2	liver:	n/a	n/a
33	POLR2A	chr1:226374201-226375048	PFSK-1	brain:	n/a	n/a
34	CHD2	chr1:226374281-226374889	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:226374660-226374810	NHDF-neo	bronchial:	n/a	chr1:226374697-226374706 chr1:226374697-226374710
36	ZBTB7A	chr1:226374248-226374996	ECC-1	luminal epithelium:	n/a	chr1:226374556-226374567
37	CTCF	chr1:226374660-226374810	GM12865	blood:	n/a	chr1:226374697-226374706 chr1:226374697-226374710
38	TAF7	chr1:226374199-226374919	H1-hESC	embryonic stem cell:	n/a	n/a
39	SMARCB1	chr1:226373683-226374887	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr1:226374074-226374983	GM12891	blood:	n/a	n/a
41	YY1	chr1:226374010-226374721	K562	blood:	n/a	chr1:226374062-226374073 chr1:226374598-226374609 chr1:226374048-226374059 chr1:226374368-226374380
42	GABPA	chr1:226374131-226374862	K562	blood:	n/a	n/a
43	RFX5	chr1:226373877-226374876	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr1:226374132-226374938	HL-60	blood:	n/a	n/a
45	POLR2A	chr1:226373954-226374882	HepG2	liver:	n/a	n/a
46	POLR2A	chr1:226373987-226374957	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr1:226374560-226374710	HMF	breast:	n/a	chr1:226374697-226374706 chr1:226374697-226374710
48	CREB1	chr1:226373899-226375090	HepG2	liver:	n/a	n/a
49	TAF1	chr1:226374072-226374744	K562	blood:	n/a	n/a
50	YY1	chr1:226373837-226374851	SK-N-SH	brain:	n/a	chr1:226374062-226374073 chr1:226374598-226374609 chr1:226374048-226374059 chr1:226374368-226374380

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226374025..226374961-chr10:103124126..103125126,2	Hela-S3	cervix:
3	chr1:226374065..226375016-chr5:130506120..130506933,2	NB4	blood:
4	chr1:226186326..226187179-chr1:226374081..226375039,2	K562	blood:
5	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
6	chr1:226251379..226253297-chr1:226374542..226377353,2	K562	blood:
7	chr1:226374221..226374879-chr11:62608322..62609498,3	Hela-S3	cervix:
8	chr1:226374445..226376011-chr1:226411656..226414406,2	K562	blood:
9	chr1:226270770..226272699-chr1:226374583..226377096,2	MCF-7	breast:
10	chr1:226313633..226315169-chr1:226374399..226376035,2	MCF-7	breast:

Variant related genes	Relation type
ACBD3	TF binding region
ENSG00000223570	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000185155	Chromatin interaction
ENSG00000225518	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000186687	Chromatin interaction
ENSG00000270598	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr1:226372000-226375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:226372200-226374800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:226372200-226375200	Active TSS	NHDF-Ad	bronchial
4	chr1:226372400-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:226372400-226375000	Active TSS	NHLF	lung
6	chr1:226372600-226374800	Active TSS	HSMMtube	muscle
7	chr1:226372600-226374800	Active TSS	Osteobl	bone
8	chr1:226372600-226375000	Active TSS	HSMM	muscle
9	chr1:226372600-226375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
11	chr1:226372800-226374800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:226372800-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:226372800-226374800	Active TSS	Fetal Kidney	kidney
14	chr1:226372800-226375000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:226372800-226375000	Active TSS	Left Ventricle	heart
16	chr1:226372800-226375200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:226372800-226375200	Active TSS	Psoas Muscle	Psoas
18	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:226373000-226374800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:226373000-226374800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:226373000-226374800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr1:226373000-226374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:226373000-226374800	Active TSS	Placenta	Placenta
24	chr1:226373000-226374800	Active TSS	Pancreas	Pancrea
25	chr1:226373000-226375000	Active TSS	Aorta	Aorta
26	chr1:226373000-226375000	Active TSS	Colonic Mucosa	Colon
27	chr1:226373000-226375000	Active TSS	Fetal Stomach	stomach
28	chr1:226373000-226375000	Active TSS	Ovary	ovary
29	chr1:226373000-226375000	Active TSS	Right Ventricle	heart
30	chr1:226373000-226375000	Bivalent/Poised TSS	HepG2	liver
31	chr1:226373000-226375200	Active TSS	H9 Cell Line	embryonic stem cell
32	chr1:226373000-226375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:226373000-226375200	Active TSS	Fetal Intestine Small	intestine
34	chr1:226373000-226375200	Active TSS	Fetal Muscle Leg	muscle
35	chr1:226373200-226374800	Active TSS	Fetal Intestine Large	intestine
36	chr1:226373200-226374800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr1:226373200-226374800	Active TSS	HUVEC	blood vessel
38	chr1:226373200-226374800	Active TSS	NH-A	brain
39	chr1:226373200-226375000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:226373200-226375200	Active TSS	H1 Cell Line	embryonic stem cell
41	chr1:226373200-226375200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:226373200-226375200	Active TSS	K562	blood
43	chr1:226373400-226374800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:226373400-226374800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:226373400-226374800	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr1:226373400-226375000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr1:226373400-226375000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:226373400-226375000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:226373400-226375000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:226373400-226375000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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