Variant report

Variant	nsv523596
Chromosome Location	chr3:142132749-142164735
allele	n/a
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	ARID3A	chr3:142164561-142164907	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:142158404-142158601	K562	blood:	n/a	n/a
3	ARID3A	chr3:142164559-142164562	K562	blood:	n/a	n/a
4	ARID3A	chr3:142155824-142156085	HepG2	liver:	n/a	n/a
5	ATF1	chr3:142158348-142158491	K562	blood:	n/a	n/a
6	ATF2	chr3:142164617-142165188	GM12878	blood:	n/a	n/a
7	ATF3	chr3:142153408-142153662	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr3:142153428-142153647	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr3:142153366-142153651	K562	blood:	n/a	n/a
10	BATF	chr3:142164703-142164947	GM12878	blood:	n/a	n/a
11	BATF	chr3:142164672-142165015	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:142158268-142158557	K562	blood:	n/a	n/a
13	CBX3	chr3:142161868-142162484	K562	blood:	n/a	n/a
14	CCNT2	chr3:142158390-142158554	K562	blood:	n/a	n/a
15	CEBPB	chr3:142163309-142163452	HepG2	liver:	n/a	chr3:142163401-142163412
16	CEBPB	chr3:142153388-142153706	A549	lung:	n/a	chr3:142153549-142153560
17	CEBPB	chr3:142163252-142163516	H1-hESC	embryonic stem cell:	n/a	chr3:142163401-142163412
18	CEBPB	chr3:142153401-142153667	K562	blood:	n/a	chr3:142153549-142153560
19	CEBPB	chr3:142163246-142163498	A549	lung:	n/a	chr3:142163401-142163412
20	CEBPB	chr3:142163982-142164269	HepG2	liver:	n/a	chr3:142164115-142164132 chr3:142164150-142164161
21	CEBPB	chr3:142164067-142164217	A549	lung:	n/a	chr3:142164115-142164132 chr3:142164150-142164161
22	CEBPB	chr3:142153377-142153725	IMR90	lung:	n/a	chr3:142153386-142153398 chr3:142153549-142153560
23	CEBPB	chr3:142153415-142153719	K562	blood:	n/a	chr3:142153549-142153560
24	CEBPB	chr3:142153364-142153734	HepG2	liver:	n/a	chr3:142153386-142153398 chr3:142153549-142153560
25	CEBPB	chr3:142153478-142153698	Hela-S3	cervix:	n/a	chr3:142153549-142153560
26	CEBPB	chr3:142163257-142163522	IMR90	lung:	n/a	chr3:142163401-142163412
27	CEBPB	chr3:142153373-142153724	H1-hESC	embryonic stem cell:	n/a	chr3:142153386-142153398 chr3:142153549-142153560
28	CEBPB	chr3:142163253-142163559	HepG2	liver:	n/a	chr3:142163401-142163412
29	CEBPB	chr3:142163282-142163583	MCF-7	breast:	n/a	chr3:142163401-142163412
30	CEBPB	chr3:142153428-142153655	HepG2	liver:	n/a	chr3:142153549-142153560
31	CEBPB	chr3:142163251-142163539	K562	blood:	n/a	chr3:142163401-142163412
32	CEBPB	chr3:142164094-142164207	K562	blood:	n/a	chr3:142164115-142164132 chr3:142164150-142164161
33	CEBPB	chr3:142153375-142153695	HepG2	liver:	n/a	chr3:142153386-142153398 chr3:142153549-142153560
34	CEBPB	chr3:142163223-142163485	K562	blood:	n/a	chr3:142163401-142163412
35	CEBPD	chr3:142153450-142153673	HepG2	liver:	n/a	n/a
36	CEBPD	chr3:142158280-142158560	K562	blood:	n/a	n/a
37	CHD1	chr3:142164554-142165575	GM12878	blood:	n/a	n/a
38	CREB1	chr3:142164701-142165328	GM12878	blood:	n/a	n/a
39	CTCF	chr3:142139880-142140030	A549	lung:	n/a	n/a
40	CTCF	chr3:142139820-142139970	MCF-7	breast:	n/a	n/a
41	CTCF	chr3:142156967-142157061	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr3:142148674-142148747	GM13976	blood:	n/a	n/a
43	CTCF	chr3:142149560-142149710	A549	lung:	n/a	n/a
44	CTCF	chr3:142163317-142163357	Fibrobl	skin:	n/a	n/a
45	E2F4	chr3:142141462-142141612	MCF10A-Er-Src	breast:	n/a	n/a
46	E2F4	chr3:142163953-142164203	MCF10A-Er-Src	breast:	n/a	n/a
47	EBF1	chr3:142151996-142152029	GM12878	blood:	n/a	n/a
48	EP300	chr3:142158327-142158603	K562	blood:	n/a	n/a
49	EP300	chr3:142153402-142153656	HepG2	liver:	n/a	n/a
50	EP300	chr3:142151884-142152257	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142153615..142157522-chr3:142160803..142162570,3	K562	blood:
2	chr3:142145296..142147116-chr3:142150982..142153061,2	MCF-7	breast:
3	chr3:142154895..142157522-chr3:142161051..142162570,2	K562	blood:
4	chr3:142145904..142149296-chr3:142151128..142153785,4	K562	blood:
5	chr3:142154895..142157522-chr3:142161051..142162570,2	K562	blood:
6	chr3:142146723..142149402-chr3:142165233..142167666,2	K562	blood:
7	chr3:142142395..142144953-chr3:142145162..142147972,2	MCF-7	breast:
8	chr3:142150817..142154662-chr3:142162783..142169338,6	MCF-7	breast:
9	chr3:142145296..142147116-chr3:142150982..142153061,2	MCF-7	breast:
10	chr3:142153770..142155511-chr3:145238998..145241644,2	MCF-7	breast:
11	chr3:142164147..142165687-chr3:142176096..142178245,2	K562	blood:
12	chr3:142131465..142133801-chr3:142135541..142137461,2	K562	blood:
13	chr3:142153615..142157522-chr3:142160803..142162570,3	K562	blood:
14	chr3:142140796..142143669-chr3:142143839..142146519,3	K562	blood:
15	chr3:142152079..142156407-chr3:142164108..142168187,4	MCF-7	breast:
16	chr3:142145919..142149296-chr3:142150484..142152821,3	K562	blood:

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	XRN1	hsa-let-7b-5p	chr3:142136689-142136711

Variant related genes	Relation type
ENSG00000242479	TF binding region
XRN1	TF binding region
ENSG00000255637	TF binding region
RNU1-100P	TF binding region
ENSG00000242479	chromatin interactions
ENSG00000114127	chromatin interactions
ENSG00000244024	chromatin interactions
ENSG00000175054	chromatin interactions

Extended variants
information (count: 1249 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1249 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9867210	chr3:142132749-142132750	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571196656	chr3:142132757-142132758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538637619	chr3:142132774-142132775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77809066	chr3:142132876-142132877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536727402	chr3:142132936-142132937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138581988	chr3:142132947-142132948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201972514	chr3:142132957-142132958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376396490	chr3:142132968-142132969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs369739661	chr3:142132974-142132975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144282619	chr3:142133008-142133009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555234728	chr3:142133059-142133060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs376959839	chr3:142133067-142133068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146106309	chr3:142133075-142133076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202035072	chr3:142133080-142133081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148710703	chr3:142133084-142133085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142290030	chr3:142133087-142133088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369213141	chr3:142133093-142133094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373000608	chr3:142133094-142133095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9813698	chr3:142133144-142133145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201207509	chr3:142133164-142133165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372429770	chr3:142133182-142133183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190980098	chr3:142133209-142133210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11714528	chr3:142133218-142133219	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs530169183	chr3:142133237-142133238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182695330	chr3:142133249-142133250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35156679	chr3:142133339-142133340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72203591	chr3:142133340-142133341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78623223	chr3:142133353-142133354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78128347	chr3:142133354-142133355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75807395	chr3:142133356-142133357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548546024	chr3:142133368-142133369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111250845	chr3:142133369-142133370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560795561	chr3:142133385-142133386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528261161	chr3:142133400-142133401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566941759	chr3:142133431-142133432	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141102365	chr3:142133522-142133523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187955110	chr3:142133527-142133528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370462176	chr3:142133547-142133548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13065140	chr3:142133572-142133573	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541403959	chr3:142133573-142133574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372971207	chr3:142133579-142133580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377755947	chr3:142133589-142133590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536378951	chr3:142133610-142133611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554698885	chr3:142133616-142133617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567107486	chr3:142133621-142133622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147985894	chr3:142133626-142133627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376113395	chr3:142133628-142133629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558858811	chr3:142133629-142133630	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577484544	chr3:142133635-142133636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552655240	chr3:142133637-142133638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1083 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142076000-142136400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:142083600-142158600	Weak transcription	NHEK	skin
4	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr3:142105800-142136600	Strong transcription	Fetal Intestine Large	intestine
6	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:142109200-142141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:142112200-142133200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr3:142112200-142145000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:142112200-142145400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:142112200-142151600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr3:142112200-142152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:142112200-142152200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr3:142112200-142154600	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr3:142112400-142142400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr3:142112400-142146600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:142112600-142141600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:142112600-142150600	Strong transcription	Placenta	Placenta
19	chr3:142112800-142142800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:142113000-142152200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:142113400-142151800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:142114800-142151800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:142115800-142134800	Weak transcription	Right Ventricle	heart
25	chr3:142115800-142136400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:142115800-142138000	Weak transcription	Esophagus	oesophagus
27	chr3:142116400-142141800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:142117600-142138200	Weak transcription	Pancreas	Pancrea
29	chr3:142118800-142142400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr3:142119000-142143400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:142119800-142133000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:142119800-142142200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:142120200-142145000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr3:142120400-142135400	Strong transcription	Liver	Liver
35	chr3:142120400-142142400	Strong transcription	Adipose Nuclei	Adipose
36	chr3:142120400-142151800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:142120600-142134400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr3:142120600-142138000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:142120600-142151800	Strong transcription	Dnd41	blood
40	chr3:142120800-142134800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:142121200-142142600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:142121400-142140000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:142122400-142142800	Strong transcription	GM12878-XiMat	blood
44	chr3:142122800-142133400	Strong transcription	Primary B cells from cord blood	blood
45	chr3:142123400-142134600	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr3:142123400-142136800	Strong transcription	Osteobl	bone
47	chr3:142125000-142136800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr3:142125000-142151800	Strong transcription	Fetal Thymus	thymus
49	chr3:142125200-142134000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:142125400-142132800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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