Variant report

Variant	rs62283619
Chromosome Location	chr3:140950390-140950391
allele	C/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	ZMIZ1	chr3:140950305-140950748	K562	blood:	n/a	n/a
2	CTCF	chr3:140950298-140950829	K562	blood:	n/a	chr3:140950677-140950690
3	JUND	chr3:140950193-140950897	A549	lung:	n/a	n/a
4	CTCF	chr3:140950260-140950410	HMEC	breast:	n/a	n/a
5	TCF12	chr3:140950219-140950557	A549	lung:	n/a	n/a
6	POLR2A	chr3:140950206-140950644	HUVEC	blood vessel:	n/a	n/a
7	EGR1	chr3:140950307-140950800	K562	blood:	n/a	chr3:140950512-140950521 chr3:140950511-140950521 chr3:140950511-140950524 chr3:140950516-140950526
8	JUND	chr3:140950075-140950865	K562	blood:	n/a	n/a
9	EP300	chr3:140950358-140950723	SK-N-SH_RA	brain:	n/a	chr3:140950689-140950705
10	POLR2A	chr3:140949896-140950901	K562	blood:	n/a	n/a
11	MAX	chr3:140950280-140950802	K562	blood:	n/a	chr3:140950515-140950525
12	FOXA1	chr3:140950364-140950736	T-47D	breast:	n/a	n/a
13	MAX	chr3:140949979-140950840	GM12878	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
14	RUNX3	chr3:140949871-140950692	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:140949861-140950804	GM12878	blood:	n/a	n/a
16	TAF1	chr3:140950197-140950916	ECC-1	luminal epithelium:	n/a	n/a
17	ELF1	chr3:140949876-140950957	GM12878	blood:	n/a	chr3:140950114-140950127 chr3:140950540-140950549 chr3:140950315-140950324
18	POLR2A	chr3:140949862-140950622	GM12878	blood:	n/a	n/a
19	CTCF	chr3:140950314-140950844	MCF-7	breast:	n/a	chr3:140950677-140950690
20	POLR2A	chr3:140950175-140950913	MCF-7	breast:	n/a	n/a
21	RAD21	chr3:140950387-140950891	ECC-1	luminal epithelium:	n/a	n/a
22	TAF1	chr3:140949820-140950701	GM12878	blood:	n/a	n/a
23	MAZ	chr3:140950310-140950758	HepG2	liver:	n/a	chr3:140950515-140950525
24	RCOR1	chr3:140950236-140950525	K562	blood:	n/a	n/a
25	MXI1	chr3:140950006-140950758	GM12878	blood:	n/a	n/a
26	BCLAF1	chr3:140950287-140950767	GM12878	blood:	n/a	chr3:140950547-140950556 chr3:140950513-140950526
27	ETS1	chr3:140950379-140950735	K562	blood:	n/a	n/a
28	CTCF	chr3:140950332-140950805	H1-hESC	embryonic stem cell:	n/a	chr3:140950677-140950690
29	POLR2A	chr3:140950290-140950609	GM12892	blood:	n/a	n/a
30	TAF1	chr3:140949908-140950760	PFSK-1	brain:	n/a	n/a
31	EP300	chr3:140950329-140950816	SK-N-SH_RA	brain:	n/a	chr3:140950689-140950705
32	HEY1	chr3:140950205-140950884	HepG2	liver:	n/a	chr3:140950693-140950708 chr3:140950503-140950518
33	CTCF	chr3:140950291-140950832	GM12878	blood:	n/a	chr3:140950677-140950690
34	SIN3AK20	chr3:140950129-140950804	PANC-1	pancreas:	n/a	n/a
35	YY1	chr3:140950232-140950805	GM12892	blood:	n/a	chr3:140950518-140950529 chr3:140950513-140950522
36	CREB1	chr3:140950075-140950819	A549	lung:	n/a	n/a
37	POLR2A	chr3:140950215-140950922	HCT-116	colon:	n/a	n/a
38	POLR2A	chr3:140950191-140950932	ECC-1	luminal epithelium:	n/a	n/a
39	MYC	chr3:140949772-140951059	K562	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
40	ZNF143	chr3:140950007-140950829	GM12878	blood:	n/a	n/a
41	SMC3	chr3:140950006-140951081	SK-N-SH	brain:	n/a	chr3:140950896-140950906
42	MYC	chr3:140950329-140950471	GM12878	blood:	n/a	n/a
43	EGR1	chr3:140950261-140950760	MCF-7	breast:	n/a	chr3:140950512-140950521 chr3:140950511-140950521 chr3:140950511-140950524 chr3:140950516-140950526
44	POLR2A	chr3:140949742-140950737	PBDE	blood:	n/a	n/a
45	HDAC2	chr3:140950365-140950767	HepG2	liver:	n/a	n/a
46	CBX3	chr3:140950149-140950684	K562	blood:	n/a	n/a
47	FOXM1	chr3:140949934-140950767	GM12878	blood:	n/a	n/a
48	POLR2A	chr3:140949800-140950823	GM12892	blood:	n/a	n/a
49	RAD21	chr3:140950389-140950772	K562	blood:	n/a	n/a
50	TAF1	chr3:140949852-140950809	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
ACPL2	TF binding region
ENSG00000128245	Chromatin interaction
ENSG00000155893	Chromatin interaction
ENSG00000134371	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:127 , 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	chr3:140949600-140950400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr3:140949600-140950400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:140949600-140950400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr3:140949600-140950400	Active TSS	Right Atrium	heart
8	chr3:140949600-140950400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr3:140949600-140950400	Flanking Active TSS	GM12878-XiMat	blood
10	chr3:140949600-140950400	Flanking Active TSS	HSMMtube	muscle
11	chr3:140949600-140950400	Flanking Active TSS	NH-A	brain
12	chr3:140949600-140950600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr3:140949800-140950400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:140949800-140950400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:140949800-140950400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:140949800-140950400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
17	chr3:140949800-140950400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:140949800-140950400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr3:140949800-140950400	Flanking Active TSS	Colonic Mucosa	Colon
20	chr3:140949800-140950400	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr3:140949800-140950400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr3:140949800-140950400	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr3:140949800-140950400	Flanking Active TSS	Placenta	Placenta
24	chr3:140949800-140950400	Flanking Active TSS	HUVEC	blood vessel
25	chr3:140949800-140950400	Flanking Active TSS	K562	blood
26	chr3:140949800-140950400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:140949800-140950600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:140949800-140950600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:140949800-140951200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr3:140949800-140951200	Active TSS	Right Ventricle	heart
31	chr3:140949800-140951400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr3:140949800-140951400	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr3:140949800-140951400	Active TSS	Rectal Smooth Muscle	rectum
34	chr3:140949800-140951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:140949800-140951600	Active TSS	Aorta	Aorta
36	chr3:140949800-140951600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:140949800-140951600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:140949800-140951600	Active TSS	Ovary	ovary
39	chr3:140949800-140951600	Active TSS	Psoas Muscle	Psoas
40	chr3:140949800-140951600	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr3:140949800-140952000	Active TSS	H9 Cell Line	embryonic stem cell
42	chr3:140949800-140952000	Active TSS	Left Ventricle	heart
43	chr3:140950000-140950400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr3:140950000-140950400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr3:140950000-140950400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:140950000-140950400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:140950000-140950400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr3:140950000-140950400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr3:140950000-140950400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr3:140950000-140950400	Flanking Active TSS	Fetal Brain Female	brain

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