Variant report

Variant	rs544042524
Chromosome Location	chr3:141594734-141594735
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:237)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:237 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:141594102-141597281	IMR90	lung:	n/a	n/a
2	CTCF	chr3:141594301-141594818	K562	blood:	n/a	chr3:141594498-141594511
3	CREB1	chr3:141594339-141595850	K562	blood:	n/a	n/a
4	RAD21	chr3:141594363-141594760	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr3:141594328-141594783	MCF-7	breast:	n/a	chr3:141594498-141594511
6	MYC	chr3:141593847-141597213	A549	lung:	n/a	n/a
7	USF1	chr3:141594729-141595056	A549	lung:	n/a	n/a
8	MYC	chr3:141594339-141596459	K562	blood:	n/a	n/a
9	TBP	chr3:141594431-141594753	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:141594421-141596410	GM18951	blood:	n/a	n/a
11	CTCF	chr3:141594294-141594763	IMR90	lung:	n/a	chr3:141594498-141594511
12	CREB1	chr3:141594277-141595878	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr3:141594405-141595149	K562	blood:	n/a	chr3:141595111-141595127
14	TBL1XR1	chr3:141594341-141595092	K562	blood:	n/a	n/a
15	CHD1	chr3:141594054-141598485	IMR90	lung:	n/a	chr3:141595830-141595840
16	NFIC	chr3:141594287-141595371	GM12878	blood:	n/a	n/a
17	POLR2A	chr3:141594370-141596537	K562	blood:	n/a	n/a
18	POLR2A	chr3:141594630-141595093	GM12878	blood:	n/a	n/a
19	MAFK	chr3:141594404-141594861	Hela-S3	cervix:	n/a	n/a
20	REST	chr3:141594721-141595065	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr3:141594326-141595884	HL-60	blood:	n/a	n/a
22	ATF1	chr3:141594386-141595100	K562	blood:	n/a	chr3:141594894-141594908
23	POLR2A	chr3:141594364-141595855	H1-neurons	neurons:	n/a	n/a
24	EP300	chr3:141594380-141595026	K562	blood:	n/a	n/a
25	STAT5A	chr3:141594363-141594879	GM12878	blood:	n/a	chr3:141594433-141594441 chr3:141594475-141594487 chr3:141594829-141594852
26	NR3C1	chr3:141594681-141595194	A549	lung:	n/a	n/a
27	FOXM1	chr3:141594290-141595359	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:141594253-141596909	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF143	chr3:141594323-141594753	GM12878	blood:	n/a	n/a
30	POLR2A	chr3:141594366-141595168	PANC-1	pancreas:	n/a	n/a
31	CBX3	chr3:141594328-141595334	K562	blood:	n/a	n/a
32	UBTF	chr3:141594349-141596506	K562	blood:	n/a	n/a
33	SMC3	chr3:141594236-141594742	HepG2	liver:	n/a	n/a
34	MXI1	chr3:141594273-141595678	Hela-S3	cervix:	n/a	n/a
35	FOXM1	chr3:141594289-141594754	GM12878	blood:	n/a	n/a
36	TBP	chr3:141594377-141595798	K562	blood:	n/a	n/a
37	TCF7L2	chr3:141594260-141595265	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr3:141594402-141596478	Raji	blood:	n/a	n/a
39	RAD21	chr3:141594207-141594765	A549	lung:	n/a	n/a
40	POLR2A	chr3:141594700-141595228	GM12891	blood:	n/a	n/a
41	TBL1XR1	chr3:141594519-141595087	K562	blood:	n/a	n/a
42	POLR2A	chr3:141594626-141594853	HepG2	liver:	n/a	n/a
43	SMC3	chr3:141594152-141595264	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr3:141594447-141596456	MCF-7	breast:	n/a	n/a
45	POLR2A	chr3:141594443-141596424	GM18505	blood:	n/a	n/a
46	ZNF263	chr3:141594535-141595725	HEK293-T-REx	kidney:	n/a	n/a
47	TAL1	chr3:141594402-141594749	K562	blood:	n/a	n/a
48	POLR2A	chr3:141594412-141595899	K562	blood:	n/a	n/a
49	TEAD4	chr3:141593839-141594761	ECC-1	luminal epithelium:	n/a	n/a
50	POLR2A	chr3:141594403-141595770	GM12891	blood:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141295275..141295993-chr3:141593960..141594866,2	MCF-7	breast:
2	chr3:141455674..141460093-chr3:141592801..141597430,19	MCF-7	breast:
3	chr3:141455466..141460652-chr3:141593125..141598625,15	K562	blood:
4	chr3:141594674..141598943-chr3:141621711..141625603,5	MCF-7	breast:
5	chr3:141581516..141585437-chr3:141593335..141595315,3	K562	blood:
6	chr3:141592835..141597303-chr3:141629979..141635181,8	MCF-7	breast:
7	chr3:141456656..141457567-chr3:141593967..141595178,5	K562	blood:
8	chr3:141455463..141459614-chr3:141593520..141599146,20	K562	blood:
9	chr3:141594460..141597483-chr3:141621419..141624479,3	K562	blood:
10	chr3:141456889..141457572-chr3:141594062..141594939,3	MCF-7	breast:
11	chr3:141456347..141457648-chr3:141594019..141595007,11	MCF-7	breast:
12	chr3:141573267..141574199-chr3:141594125..141594756,3	MCF-7	breast:
13	chr3:141582963..141586740-chr3:141593075..141596909,5	MCF-7	breast:
14	chr3:141296186..141298105-chr3:141594416..141596281,2	MCF-7	breast:
15	chr3:141296069..141298248-chr3:141594604..141596170,2	K562	blood:
16	chr17:29297677..29298316-chr3:141594597..141595457,2	Hela-S3	cervix:
17	chr3:141593925..141596999-chr3:141621116..141624479,3	K562	blood:
18	chr3:141452499..141459593-chr3:141591792..141599045,17	MCF-7	breast:

No data

Variant related genes	Relation type
ATP1B3	TF binding region
ENSG00000228398	Chromatin interaction
ENSG00000200389	Chromatin interaction
ENSG00000181481	Chromatin interaction
ENSG00000155903	Chromatin interaction
ENSG00000114125	Chromatin interaction
ENSG00000069849	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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3333253	chr3:141585303-141602936	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
4	esv3385430	chr3:141594412-141596710	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3325354	chr3:141594487-141597235	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
6	nsv591902	chr3:141594547-141596104	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141593400-141594800	Active TSS	HepG2	liver
2	chr3:141593400-141595000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:141593400-141596600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:141593400-141597400	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:141593400-141597600	Active TSS	Fetal Kidney	kidney
6	chr3:141593400-141597600	Active TSS	HMEC	breast
7	chr3:141593400-141597600	Active TSS	NHLF	lung
8	chr3:141593400-141598000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr3:141593600-141595000	Active TSS	Right Atrium	heart
10	chr3:141593600-141596400	Active TSS	Pancreas	Pancrea
11	chr3:141593600-141597000	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr3:141593600-141597000	Active TSS	Placenta	Placenta
13	chr3:141593600-141597200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr3:141593600-141597600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:141593600-141598400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:141593800-141594800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:141593800-141595000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:141593800-141595600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr3:141593800-141596400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:141593800-141596600	Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr3:141593800-141596600	Active TSS	Brain Anterior Caudate	brain
22	chr3:141593800-141596800	Active TSS	Brain Hippocampus Middle	brain
23	chr3:141593800-141596800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr3:141593800-141596800	Active TSS	Fetal Brain Female	brain
25	chr3:141593800-141596800	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr3:141593800-141596800	Active TSS	Thymus	Thymus
27	chr3:141593800-141597200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:141593800-141597200	Active TSS	Brain Cingulate Gyrus	brain
29	chr3:141593800-141597200	Active TSS	NH-A	brain
30	chr3:141593800-141597200	Active TSS	NHDF-Ad	bronchial
31	chr3:141593800-141597400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr3:141593800-141597400	Active TSS	Stomach Smooth Muscle	stomach
33	chr3:141593800-141597400	Active TSS	HSMMtube	muscle
34	chr3:141593800-141597600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:141593800-141597600	Active TSS	H9 Cell Line	embryonic stem cell
36	chr3:141593800-141597600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:141593800-141597600	Active TSS	Fetal Intestine Large	intestine
38	chr3:141593800-141597600	Active TSS	HSMM	muscle
39	chr3:141593800-141598000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr3:141593800-141598000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr3:141593800-141598000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:141593800-141598400	Active TSS	H1 Cell Line	embryonic stem cell
43	chr3:141594000-141594800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr3:141594000-141595200	Active TSS	Fetal Brain Male	brain
45	chr3:141594000-141596000	Active TSS	Primary hematopoietic stem cells	blood
46	chr3:141594000-141596200	Active TSS	Rectal Smooth Muscle	rectum
47	chr3:141594000-141596600	Active TSS	Brain Substantia Nigra	brain
48	chr3:141594000-141596800	Active TSS	Brain Angular Gyrus	brain
49	chr3:141594000-141597600	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr3:141594000-141597600	Active TSS	Fetal Muscle Leg	muscle

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