Variant report

Variant	rs544646923
Chromosome Location	chr1:151432125-151432126
allele	A/C
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	ZC3H11A	chr1:151431892-151432467	K562	blood:	n/a	n/a
2	SP1	chr1:151431436-151432409	A549	lung:	n/a	chr1:151431868-151431878 chr1:151431720-151431732 chr1:151431710-151431724 chr1:151431721-151431730 chr1:151431843-151431855 chr1:151431590-151431602 chr1:151431845-151431854 chr1:151431868-151431877 chr1:151431979-151431990 chr1:151431864-151431878 chr1:151431717-151431731 chr1:151431867-151431879 chr1:151431844-151431854 chr1:151431867-151431879 chr1:151431840-151431854 chr1:151431844-151431853 chr1:151431723-151431737 chr1:151431843-151431855 chr1:151431591-151431600
3	E2F6	chr1:151431799-151432573	K562	blood:	n/a	chr1:151431844-151431853
4	FOXA1	chr1:151431840-151432133	T-47D	breast:	n/a	chr1:151432097-151432109
5	GABPA	chr1:151431691-151432251	A549	lung:	n/a	chr1:151431844-151431853
6	HCFC1	chr1:151430201-151433371	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr1:151431758-151432558	K562	blood:	n/a	n/a
8	CHD2	chr1:151431435-151432372	GM12878	blood:	n/a	n/a
9	YY1	chr1:151431911-151432641	H1-hESC	embryonic stem cell:	n/a	chr1:151432438-151432446 chr1:151432352-151432364 chr1:151432353-151432361
10	MEF2A	chr1:151431868-151432238	GM12878	blood:	n/a	n/a
11	YY1	chr1:151431842-151432408	HCT-116	colon:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151432352-151432364 chr1:151432353-151432361 chr1:151431845-151431856
12	YY1	chr1:151431822-151432134	A549	lung:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151431845-151431856
13	POLR2A	chr1:151431479-151432274	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr1:151431847-151432137	HUVEC	blood vessel:	n/a	n/a
15	YY1	chr1:151432113-151432508	GM12892	blood:	n/a	chr1:151432438-151432446 chr1:151432352-151432364 chr1:151432353-151432361
16	YY1	chr1:151431789-151432126	GM12878	blood:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151431845-151431856
17	CHD1	chr1:151431989-151432515	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIX5	chr1:151431818-151432173	A549	lung:	n/a	n/a
19	POLR2A	chr1:151430598-151432171	MCF10A-Er-Src	breast:	n/a	n/a
20	GABPA	chr1:151431737-151432237	SK-N-SH	brain:	n/a	chr1:151431844-151431853
21	TEAD4	chr1:151431718-151432555	K562	blood:	n/a	n/a
22	FOXA1	chr1:151431820-151432217	HepG2	liver:	n/a	chr1:151432097-151432109
23	ELF1	chr1:151431718-151432137	SK-N-SH	brain:	n/a	n/a
24	REST	chr1:151432092-151432554	HL-60	blood:	n/a	n/a
25	YY1	chr1:151431843-151432156	ECC-1	luminal epithelium:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151431845-151431856
26	USF2	chr1:151432119-151432434	Hela-S3	cervix:	n/a	n/a
27	BHLHE40	chr1:151431886-151432240	GM12878	blood:	n/a	n/a
28	NFYA	chr1:151431846-151432301	Hela-S3	cervix:	n/a	chr1:151432001-151432019
29	POLR2A	chr1:151430748-151432200	K562	blood:	n/a	n/a
30	CREB1	chr1:151431855-151432514	K562	blood:	n/a	n/a
31	MAZ	chr1:151430433-151432598	IMR90	lung:	n/a	chr1:151431861-151431871
32	MAX	chr1:151431501-151432439	NB4	blood:	n/a	chr1:151431861-151431871
33	CHD2	chr1:151431501-151432260	HepG2	liver:	n/a	n/a
34	POLR2A	chr1:151431430-151432231	MCF10A-Er-Src	breast:	n/a	n/a
35	ELF1	chr1:151431735-151432251	GM12878	blood:	n/a	n/a
36	E2F4	chr1:151431858-151432251	MCF10A-Er-Src	breast:	n/a	n/a
37	MYC	chr1:151432014-151432470	H1-hESC	embryonic stem cell:	n/a	n/a
38	YY1	chr1:151431757-151432379	K562	blood:	n/a	chr1:151431844-151431853 chr1:151431847-151431856 chr1:151432352-151432364 chr1:151432353-151432361 chr1:151431845-151431856
39	IRF1	chr1:151431807-151432354	K562	blood:	n/a	chr1:151431843-151431857
40	SP2	chr1:151431879-151432131	H1-hESC	embryonic stem cell:	n/a	chr1:151431979-151431994
41	REST	chr1:151431797-151432266	A549	lung:	n/a	n/a
42	MAX	chr1:151431166-151432449	ECC-1	luminal epithelium:	n/a	chr1:151431861-151431871
43	FOXA1	chr1:151431859-151432205	T-47D	breast:	n/a	chr1:151432097-151432109
44	EGR1	chr1:151430419-151432135	MCF-7	breast:	n/a	chr1:151431912-151431926 chr1:151431871-151431881 chr1:151431587-151431601 chr1:151431168-151431182 chr1:151431239-151431248 chr1:151431843-151431853 chr1:151431844-151431854 chr1:151431847-151431857 chr1:151431978-151431987 chr1:151431205-151431219 chr1:151431053-151431066 chr1:151431518-151431532
45	BCLAF1	chr1:151431740-151432240	GM12878	blood:	n/a	chr1:151431978-151431987 chr1:151431845-151431854 chr1:151431843-151431856
46	EGR1	chr1:151431740-151432138	K562	blood:	n/a	chr1:151431912-151431926 chr1:151431871-151431881 chr1:151431843-151431853 chr1:151431844-151431854 chr1:151431847-151431857 chr1:151431978-151431987
47	POLR2A	chr1:151431848-151432156	GM12892	blood:	n/a	n/a
48	CTCF	chr1:151432034-151432310	K562	blood:	n/a	n/a
49	POLR2A	chr1:151430508-151432128	GM18951	blood:	n/a	n/a
50	SMC3	chr1:151431889-151432395	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151431597..151432191-chr2:20850459..20851110,2	Hela-S3	cervix:
2	chr1:151431169..151432846-chr1:151517361..151519624,3	MCF-7	breast:
3	chr1:151253485..151255699-chr1:151429417..151432153,4	K562	blood:
4	chr1:151431720..151433397-chr1:151480112..151483047,2	K562	blood:
5	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
6	chr1:151413939..151417832-chr1:151429782..151433498,5	K562	blood:
7	chr1:151431438..151433634-chr1:151734265..151736700,2	K562	blood:
8	chr1:151411841..151424302-chr1:151427210..151433048,24	MCF-7	breast:
9	chr1:151371183..151372890-chr1:151431011..151433472,2	MCF-7	breast:
10	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:
11	chr1:151428938..151433041-chr1:151480813..151490135,53	MCF-7	breast:
12	chr1:151270824..151272634-chr1:151430532..151433338,2	MCF-7	breast:
13	chr1:151428567..151432402-chr1:151505978..151509700,4	MCF-7	breast:
14	chr1:151429381..151432201-chr14:21736244..21738881,2	MCF-7	breast:
15	chr1:151371526..151374105-chr1:151428160..151432357,4	K562	blood:
16	chr1:151411812..151418574-chr1:151428106..151433466,11	MCF-7	breast:
17	chr1:151431826..151434593-chr1:151511133..151514053,3	K562	blood:
18	chr1:151429965..151433300-chr1:151491808..151494354,4	MCF-7	breast:
19	chr1:151430443..151432675-chr1:151490998..151493520,3	MCF-7	breast:
20	chr1:151430847..151432842-chr1:151517384..151519921,3	MCF-7	breast:
21	chr1:151430961..151432798-chr1:151585667..151587321,2	MCF-7	breast:
22	chr1:151430404..151432335-chr1:151692913..151695013,2	MCF-7	breast:
23	chr1:151423878..151427557-chr1:151430240..151433379,4	K562	blood:
24	chr1:151430095..151434593-chr1:151511133..151513913,5	K562	blood:
25	chr1:151431956..151432631-chr1:151707245..151708154,2	K562	blood:
26	chr1:151430633..151432391-chr1:151583582..151586341,2	MCF-7	breast:
27	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:

Variant related genes	Relation type
POGZ	TF binding region
ENSG00000143376	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000250734	Chromatin interaction
ENSG00000143436	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000092199	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000178796	Chromatin interaction
ENSG00000118960	Chromatin interaction
ENSG00000159377	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv1811070	chr1:151403570-151433317	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv3393715	chr1:151430153-151433301	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
5	esv3392140	chr1:151430178-151433126	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
6	esv3371609	chr1:151430628-151432776	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151429200-151432200	Active TSS	GM12878-XiMat	blood
2	chr1:151429800-151432200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:151429800-151432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151429800-151432200	Active TSS	NHLF	lung
5	chr1:151429800-151432400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:151429800-151432400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:151429800-151432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:151429800-151432600	Active TSS	Colonic Mucosa	Colon
10	chr1:151429800-151432800	Active TSS	Psoas Muscle	Psoas
11	chr1:151430000-151432200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:151430000-151432200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr1:151430000-151432200	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:151430000-151432200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr1:151430000-151432200	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr1:151430000-151432200	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr1:151430000-151432200	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:151430000-151432200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:151430000-151432200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:151430000-151432200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:151430000-151432200	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:151430000-151432200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:151430000-151432200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr1:151430000-151432200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:151430000-151432200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:151430000-151432200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:151430000-151432200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:151430000-151432200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:151430000-151432200	Active TSS	Brain Anterior Caudate	brain
30	chr1:151430000-151432200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr1:151430000-151432200	Active TSS	Colon Smooth Muscle	Colon
32	chr1:151430000-151432200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:151430000-151432200	Active TSS	Fetal Kidney	kidney
34	chr1:151430000-151432200	Active TSS	Fetal Stomach	stomach
35	chr1:151430000-151432200	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:151430000-151432200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr1:151430000-151432200	Active TSS	Small Intestine	intestine
38	chr1:151430000-151432200	Active TSS	Thymus	Thymus
39	chr1:151430000-151432200	Active TSS	A549	lung
40	chr1:151430000-151432200	Active TSS	K562	blood
41	chr1:151430000-151432200	Active TSS	Osteobl	bone
42	chr1:151430000-151432400	Active TSS	Brain Cingulate Gyrus	brain
43	chr1:151430000-151432400	Active TSS	Duodenum Mucosa	Duodenum
44	chr1:151430000-151432400	Active TSS	Fetal Brain Female	brain
45	chr1:151430000-151432400	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:151430000-151432600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:151430000-151432600	Active TSS	HSMM	muscle
48	chr1:151430000-151432600	Active TSS	NHDF-Ad	bronchial
49	chr1:151430200-151432200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:151430200-151432200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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