Variant report

Variant	rs76483969
Chromosome Location	chr3:140950072-140950073
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	POLR2A	chr3:140949896-140950901	K562	blood:	n/a	n/a
2	MAX	chr3:140949979-140950840	GM12878	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
3	RUNX3	chr3:140949871-140950692	GM12878	blood:	n/a	n/a
4	TAF1	chr3:140950007-140950202	GM12891	blood:	n/a	n/a
5	POLR2A	chr3:140949861-140950804	GM12878	blood:	n/a	n/a
6	ELF1	chr3:140949876-140950957	GM12878	blood:	n/a	chr3:140950114-140950127 chr3:140950540-140950549 chr3:140950315-140950324
7	POLR2A	chr3:140949862-140950622	GM12878	blood:	n/a	n/a
8	TAF1	chr3:140949820-140950701	GM12878	blood:	n/a	n/a
9	MXI1	chr3:140950006-140950758	GM12878	blood:	n/a	n/a
10	ZMIZ1	chr3:140950026-140950101	K562	blood:	n/a	n/a
11	TAF1	chr3:140949908-140950760	PFSK-1	brain:	n/a	n/a
12	MYC	chr3:140949997-140950269	HUVEC	blood vessel:	n/a	chr3:140950247-140950256 chr3:140950245-140950255
13	MYC	chr3:140949772-140951059	K562	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
14	ZNF143	chr3:140950007-140950829	GM12878	blood:	n/a	n/a
15	POU2F2	chr3:140949931-140950101	GM12878	blood:	n/a	n/a
16	SMC3	chr3:140950006-140951081	SK-N-SH	brain:	n/a	chr3:140950896-140950906
17	POLR2A	chr3:140949742-140950737	PBDE	blood:	n/a	n/a
18	FOXM1	chr3:140949934-140950767	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:140949800-140950823	GM12892	blood:	n/a	n/a
20	TAF1	chr3:140949852-140950809	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr3:140949935-140950727	GM12878	blood:	n/a	chr3:140950671-140950681
22	POLR2A	chr3:140949901-140950924	HEK293	kidney:	n/a	n/a
23	POLR2A	chr3:140949730-140950884	PFSK-1	brain:	n/a	n/a
24	STAT5A	chr3:140949755-140950621	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:140949841-140950575	GM12878	blood:	n/a	n/a
26	MAX	chr3:140950016-140951059	HepG2	liver:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
27	MYC	chr3:140950065-140950776	MCF-7	breast:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
28	RCOR1	chr3:140950020-140950856	K562	blood:	n/a	n/a
29	REST	chr3:140950011-140952048	H1-neurons	neurons:	n/a	chr3:140951373-140951386 chr3:140950516-140950529 chr3:140950065-140950078
30	MTA3	chr3:140949665-140950717	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:140949898-140950573	GM12891	blood:	n/a	n/a
32	POLR2A	chr3:140949628-140951109	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr3:140949830-140950713	GM12878	blood:	n/a	n/a
34	TCF3	chr3:140949918-140950832	GM12878	blood:	n/a	chr3:140950001-140950014
35	POLR2A	chr3:140949337-140950966	NB4	blood:	n/a	n/a
36	E2F6	chr3:140949806-140950706	H1-hESC	embryonic stem cell:	n/a	chr3:140950233-140950243
37	POLR2A	chr3:140950034-140950885	HepG2	liver:	n/a	n/a
38	ELF1	chr3:140950002-140950258	K562	blood:	n/a	chr3:140950114-140950127
39	POLR2A	chr3:140949460-140950726	GM12878	blood:	n/a	n/a
40	MAZ	chr3:140949899-140950763	GM12878	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256
41	POLR2A	chr3:140949720-140950743	GM12878	blood:	n/a	n/a
42	CREB1	chr3:140949947-140950689	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr3:140949948-140951119	H1-hESC	embryonic stem cell:	n/a	n/a
44	E2F6	chr3:140949925-140950945	K562	blood:	n/a	chr3:140950884-140950896 chr3:140950233-140950243
45	MAX	chr3:140949827-140950897	H1-hESC	embryonic stem cell:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
46	POLR2A	chr3:140949840-140950730	HL-60	blood:	n/a	n/a
47	POLR2A	chr3:140949813-140950653	GM12878	blood:	n/a	n/a
48	CTBP2	chr3:140949896-140951015	H1-hESC	embryonic stem cell:	n/a	n/a
49	ELF1	chr3:140949953-140950904	GM12878	blood:	n/a	chr3:140950114-140950127 chr3:140950540-140950549 chr3:140950315-140950324
50	MAX	chr3:140950015-140951093	ECC-1	luminal epithelium:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255

No.	Distal block	Cell Line	Cell type
1	chr1:193090682..193091320-chr3:140949971..140950494,2	NB4	blood:
2	chr1:11969262..11970211-chr3:140949752..140950336,2	NB4	blood:
3	chr22:32339912..32340876-chr3:140949983..140950634,2	HCT-116	colon:
4	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:
5	chr3:140949685..140950639-chr3:140993821..140994433,2	MCF-7	breast:

Variant related genes	Relation type
ACPL2	TF binding region
ENSG00000201801	Chromatin interaction
ENSG00000134371	Chromatin interaction
ENSG00000155893	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3512631	chr3:140949362-140952160	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3512632	chr3:140949362-140952160	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140947600-140950400	Flanking Active TSS	Dnd41	blood
2	chr3:140948800-140950200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:140949400-140950200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr3:140949600-140950200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr3:140949600-140950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr3:140949600-140950200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr3:140949600-140950200	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr3:140949600-140950200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr3:140949600-140950200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr3:140949600-140950200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr3:140949600-140950200	Flanking Active TSS	Fetal Thymus	thymus
12	chr3:140949600-140950200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr3:140949600-140950200	Enhancers	Spleen	Spleen
14	chr3:140949600-140950200	Flanking Active TSS	NHLF	lung
15	chr3:140949600-140950400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:140949600-140950400	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr3:140949600-140950400	Active TSS	Right Atrium	heart
21	chr3:140949600-140950400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr3:140949600-140950400	Flanking Active TSS	GM12878-XiMat	blood
23	chr3:140949600-140950400	Flanking Active TSS	HSMMtube	muscle
24	chr3:140949600-140950400	Flanking Active TSS	NH-A	brain
25	chr3:140949600-140950600	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr3:140949800-140950200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:140949800-140950200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:140949800-140950200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:140949800-140950200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr3:140949800-140950200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:140949800-140950200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:140949800-140950200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:140949800-140950200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr3:140949800-140950200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr3:140949800-140950200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:140949800-140950200	Flanking Active TSS	Liver	Liver
37	chr3:140949800-140950200	Flanking Active TSS	Esophagus	oesophagus
38	chr3:140949800-140950200	Flanking Active TSS	Fetal Intestine Large	intestine
39	chr3:140949800-140950200	Flanking Active TSS	Fetal Stomach	stomach
40	chr3:140949800-140950200	Flanking Active TSS	Lung	lung
41	chr3:140949800-140950200	Flanking Active TSS	Pancreas	Pancrea
42	chr3:140949800-140950200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr3:140949800-140950200	Flanking Active TSS	Stomach Mucosa	stomach
44	chr3:140949800-140950200	Flanking Active TSS	A549	lung
45	chr3:140949800-140950200	Flanking Active TSS	Osteobl	bone
46	chr3:140949800-140950400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:140949800-140950400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:140949800-140950400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr3:140949800-140950400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr3:140949800-140950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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