Variant report

Variant	nsv967068
Chromosome Location	chr3:134153022-134165125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr3:134164292-134164400	GM12878	blood:	n/a	n/a
2	FOS	chr3:134164606-134164927	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr3:134164663-134164842	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr3:134164822-134165166	T-47D	breast:	n/a	n/a
5	MAFF	chr3:134157576-134157653	K562	blood:	n/a	n/a
6	MYC	chr3:134157507-134157557	MCF-7	breast:	n/a	n/a
7	MYC	chr3:134164565-134164803	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr3:134154601-134154622	MCF-7	breast:	n/a	n/a
9	MYC	chr3:134154513-134154754	MCF-7	breast:	n/a	n/a
10	NFIC	chr3:134164336-134165095	ECC-1	luminal epithelium:	n/a	n/a
11	NFIC	chr3:134164385-134165075	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr3:134155667-134155867	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr3:134153512-134153573	MCF-7	breast:	n/a	n/a
14	POLR2A	chr3:134164491-134164922	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr3:134164473-134164807	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr3:134154176-134154361	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr3:134154606-134154622	MCF-7	breast:	n/a	n/a
18	RUNX3	chr3:134159008-134159246	GM12878	blood:	n/a	n/a
19	RUNX3	chr3:134158994-134159231	GM12878	blood:	n/a	n/a
20	SETDB1	chr3:134163732-134164470	U2OS	brain:	n/a	n/a
21	STAT3	chr3:134162384-134162583	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr3:134164601-134164745	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr3:134164059-134164283	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr3:134164617-134164814	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr3:134164551-134164958	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr3:134164532-134164857	MCF10A-Er-Src	breast:	n/a	n/a
27	TBL1XR1	chr3:134157542-134157663	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:134164113..134166557-chr3:134169956..134171871,3	MCF-7	breast:
2	chr3:134029018..134030767-chr3:134154072..134156280,2	MCF-7	breast:
3	chr3:134049310..134051236-chr3:134163425..134166310,2	MCF-7	breast:
4	chr3:134044455..134047309-chr3:134153979..134155678,2	MCF-7	breast:
5	chr3:134091048..134093142-chr3:134160281..134163613,3	MCF-7	breast:
6	chr3:134026798..134028420-chr3:134164621..134166613,2	MCF-7	breast:
7	chr3:134090911..134094282-chr3:134164526..134168803,5	MCF-7	breast:
8	chr3:134139570..134141496-chr3:134150691..134153669,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4788	chr3:134156678-134156699	MIMAT0019958

No data

Variant related genes	Relation type
MIR4788	TF binding region
HMGB3P13	TF binding region
ENSG00000114019	chromatin interactions

Extended variants
information (count: 507 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145050940	chr3:134153101-134153102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs559328887	chr3:134153135-134153136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200143291	chr3:134153159-134153160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34659708	chr3:134153161-134153162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201304667	chr3:134153162-134153163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565945471	chr3:134153164-134153165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528321341	chr3:134153181-134153182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554820818	chr3:134153193-134153194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573690409	chr3:134153211-134153212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188309323	chr3:134153227-134153228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562241755	chr3:134153240-134153241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562753638	chr3:134153246-134153247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575662186	chr3:134153310-134153311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544569563	chr3:134153317-134153318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11924801	chr3:134153339-134153340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs527546455	chr3:134153354-134153355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11917156	chr3:134153355-134153356	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs35377130	chr3:134153389-134153390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192296202	chr3:134153425-134153426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550032382	chr3:134153435-134153436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570147122	chr3:134153459-134153460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374860816	chr3:134153462-134153463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11917131	chr3:134153465-134153466	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs552579328	chr3:134153498-134153499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566382990	chr3:134153510-134153511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13074557	chr3:134153526-134153527	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs149037685	chr3:134153530-134153531	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs183718866	chr3:134153535-134153536	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs539008057	chr3:134153543-134153544	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs13074369	chr3:134153555-134153556	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs555875130	chr3:134153582-134153583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575703619	chr3:134153591-134153592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs59695967	chr3:134153596-134153597	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558089113	chr3:134153608-134153609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571995116	chr3:134153609-134153610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369072895	chr3:134153613-134153614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202113831	chr3:134153614-134153615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56011117	chr3:134153617-134153618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541011388	chr3:134153618-134153619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111239027	chr3:134153619-134153620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373659535	chr3:134153621-134153622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56288404	chr3:134153625-134153626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377605802	chr3:134153626-134153627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369555165	chr3:134153628-134153629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9822766	chr3:134153641-134153642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs56790312	chr3:134153709-134153710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs543609647	chr3:134153773-134153774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563795666	chr3:134153797-134153798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189253886	chr3:134153844-134153845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574647818	chr3:134153857-134153858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Cancer	21129771	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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134148000-134156000	Weak transcription	NHEK	skin
2	chr3:134148400-134159200	Weak transcription	Osteobl	bone
3	chr3:134149600-134154200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:134150400-134155800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:134151400-134154800	Weak transcription	Right Atrium	heart
6	chr3:134152000-134155800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:134155800-134156400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:134155800-134156800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr3:134155800-134157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:134155800-134157800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:134156000-134156800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:134156000-134156800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:134156000-134156800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:134156000-134156800	Enhancers	NHEK	skin
15	chr3:134156000-134157000	Enhancers	HMEC	breast
16	chr3:134156400-134160200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr3:134156600-134156800	Enhancers	A549	lung
18	chr3:134156600-134157600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:134156800-134157600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:134156800-134159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:134156800-134159200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr3:134156800-134159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr3:134156800-134159800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:134156800-134159800	Weak transcription	NHEK	skin
25	chr3:134157000-134159400	Weak transcription	HMEC	breast
26	chr3:134157400-134157600	Enhancers	A549	lung
27	chr3:134159000-134160400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:134159200-134159400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr3:134159200-134159400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:134159200-134161200	Enhancers	Osteobl	bone
31	chr3:134159400-134159800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:134159400-134159800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:134159400-134161400	Enhancers	HMEC	breast
34	chr3:134159600-134159800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:134159600-134160800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:134159800-134160600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:134159800-134160800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr3:134159800-134161000	Enhancers	NHEK	skin
39	chr3:134159800-134161200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr3:134159800-134161600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:134160200-134161400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr3:134160400-134161200	Enhancers	NHDF-Ad	bronchial
43	chr3:134160400-134162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr3:134160400-134164400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:134160600-134161200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:134160600-134161200	Enhancers	Fetal Lung	lung
47	chr3:134160600-134161400	Enhancers	Adipose Nuclei	Adipose
48	chr3:134160800-134164400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:134160800-134164400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:134161000-134161400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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