Variant report

Variant	rs533750700
Chromosome Location	chr3:142838312-142838313
allele	C/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	UBTF	chr3:142837331-142839986	K562	blood:	n/a	n/a
2	MXI1	chr3:142837650-142838810	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:142837413-142839052	K562	blood:	n/a	n/a
4	PML	chr3:142837737-142838834	K562	blood:	n/a	n/a
5	POLR2A	chr3:142837303-142839328	K562	blood:	n/a	n/a
6	CREB1	chr3:142837717-142839100	GM12878	blood:	n/a	n/a
7	ZNF263	chr3:142837735-142839609	HEK293-T-REx	kidney:	n/a	chr3:142839428-142839437
8	MAX	chr3:142837797-142838844	A549	lung:	n/a	n/a
9	POLR2A	chr3:142838311-142838837	HCT-116	colon:	n/a	n/a
10	POLR2A	chr3:142837773-142841232	GM19193	blood:	n/a	n/a
11	POLR2A	chr3:142838263-142838496	U87	brain:	n/a	n/a
12	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
13	MAX	chr3:142837718-142838730	K562	blood:	n/a	n/a
14	FOXM1	chr3:142837661-142838342	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:142837418-142838863	Raji	blood:	n/a	n/a
16	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
17	STAT5A	chr3:142837660-142838391	K562	blood:	n/a	n/a
18	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
19	CTCF	chr3:142838240-142838390	NHLF	lung:	n/a	n/a
20	RAD21	chr3:142838023-142838526	ECC-1	luminal epithelium:	n/a	chr3:142838103-142838110 chr3:142838167-142838177
21	POLR2A	chr3:142837450-142838856	K562	blood:	n/a	n/a
22	POLR2A	chr3:142836914-142843085	GM12891	blood:	n/a	n/a
23	E2F4	chr3:142837855-142839159	K562	blood:	n/a	chr3:142838688-142838696 chr3:142838683-142838698 chr3:142838425-142838435 chr3:142838688-142838696 chr3:142838914-142838924 chr3:142838688-142838695 chr3:142838911-142838921 chr3:142838694-142838704 chr3:142838688-142838695 chr3:142838688-142838695 chr3:142838697-142838707 chr3:142838917-142838927 chr3:142838687-142838697 chr3:142838700-142838710
24	MAX	chr3:142837708-142838862	A549	lung:	n/a	n/a
25	GABPA	chr3:142837741-142838876	K562	blood:	n/a	chr3:142838115-142838124 chr3:142837992-142837999
26	ZNF384	chr3:142837776-142838350	K562	blood:	n/a	n/a
27	YY1	chr3:142837844-142838489	GM12878	blood:	n/a	chr3:142838082-142838096 chr3:142838292-142838301
28	SMC3	chr3:142837804-142838451	GM12878	blood:	n/a	n/a
29	POLR2A	chr3:142837796-142841213	GM12878	blood:	n/a	n/a
30	MAX	chr3:142837801-142838740	K562	blood:	n/a	n/a
31	PML	chr3:142837665-142840120	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
33	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
34	MAX	chr3:142837717-142838729	ECC-1	luminal epithelium:	n/a	n/a
35	TCF12	chr3:142837838-142838440	ECC-1	luminal epithelium:	n/a	n/a
36	ZBTB7A	chr3:142837837-142839574	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr3:142837824-142840822	GM12878	blood:	n/a	n/a
38	YY1	chr3:142838000-142838484	GM12878	blood:	n/a	chr3:142838082-142838096 chr3:142838292-142838301
39	NFYB	chr3:142838065-142838783	K562	blood:	n/a	n/a
40	ZBTB7A	chr3:142837710-142838501	K562	blood:	n/a	n/a
41	POLR2A	chr3:142838257-142839048	U87	brain:	n/a	n/a
42	TAF1	chr3:142837718-142838313	K562	blood:	n/a	n/a
43	EGR1	chr3:142838261-142838645	K562	blood:	n/a	n/a
44	EGR1	chr3:142837770-142838695	K562	blood:	n/a	n/a
45	TBP	chr3:142837414-142838827	K562	blood:	n/a	n/a
46	EBF1	chr3:142838037-142838348	GM12878	blood:	n/a	n/a
47	E2F6	chr3:142838259-142838774	K562	blood:	n/a	chr3:142838688-142838696 chr3:142838683-142838698 chr3:142838425-142838435 chr3:142838688-142838696 chr3:142838688-142838695 chr3:142838694-142838704 chr3:142838688-142838695 chr3:142838688-142838695 chr3:142838697-142838707 chr3:142838687-142838697 chr3:142838700-142838710
48	CHD2	chr3:142837571-142838746	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr3:142838052-142838916	HEK293	kidney:	n/a	n/a
50	ELK1	chr3:142838093-142838450	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142295506..142297981-chr3:142837321..142839389,2	K562	blood:
2	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:

Variant related genes	Relation type
ENSG00000241679	TF binding region
ENSG00000163714	Chromatin interaction
ENSG00000175054	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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:142837200-142838400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr3:142837400-142838800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:142837400-142839000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
9	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
13	chr3:142837600-142838400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:142837600-142838400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr3:142837600-142838400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr3:142837600-142838400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr3:142837600-142838400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr3:142837600-142838400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:142837600-142838400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr3:142837600-142838400	Flanking Active TSS	Fetal Thymus	thymus
21	chr3:142837600-142838600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr3:142837600-142838600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
23	chr3:142837600-142839000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr3:142837600-142839400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr3:142837600-142839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr3:142837600-142840200	Active TSS	Right Atrium	heart
30	chr3:142837600-142840200	Active TSS	K562	blood
31	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr3:142837600-142840400	Active TSS	Brain Hippocampus Middle	brain
34	chr3:142837600-142840400	Active TSS	Brain Substantia Nigra	brain
35	chr3:142837600-142840400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr3:142837600-142840400	Active TSS	HSMMtube	muscle
37	chr3:142837600-142840400	Active TSS	NHDF-Ad	bronchial
38	chr3:142837600-142840600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:142837600-142840600	Active TSS	Primary T cells from cord blood	blood
40	chr3:142837600-142840600	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr3:142837600-142840600	Active TSS	NHLF	lung
42	chr3:142837600-142840600	Active TSS	Osteobl	bone
43	chr3:142837600-142840800	Active TSS	Brain Anterior Caudate	brain
44	chr3:142837600-142840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:142837600-142841000	Active TSS	HSMM	muscle
46	chr3:142837600-142841200	Active TSS	Brain Angular Gyrus	brain
47	chr3:142837800-142838400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:142837800-142838400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:142837800-142838400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr3:142837800-142838400	Flanking Active TSS	Liver	Liver

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