Variant report

Variant	nsv967067
Chromosome Location	chr3:134101913-134104793
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	MAFK	chr3:134104400-134104697	HepG2	liver:	n/a	chr3:134104518-134104532 chr3:134104519-134104530 chr3:134104519-134104530 chr3:134104519-134104534
2	MAFK	chr3:134102974-134103245	HepG2	liver:	n/a	n/a
3	MAFK	chr3:134104400-134104619	HepG2	liver:	n/a	chr3:134104518-134104532 chr3:134104519-134104530 chr3:134104519-134104530 chr3:134104519-134104534
4	ZNF143	chr3:134103099-134103225	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:134099796..134102271-chr3:134165390..134167707,2	MCF-7	breast:
2	chr3:134100431..134103354-chr3:134114088..134116858,2	MCF-7	breast:
3	chr3:134100220..134102813-chr3:134108741..134110684,2	MCF-7	breast:
4	chr3:134104354..134106982-chr3:134107701..134111001,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP63-3	chr3:134104039-134104336	NONHSAT092239

Variant related genes	Relation type
HMGN1P9	TF binding region

Extended variants
information (count: 128 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142133843	chr3:134101951-134101952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530950758	chr3:134101975-134101976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113645110	chr3:134102015-134102016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368362674	chr3:134102033-134102034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570786413	chr3:134102034-134102035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539816084	chr3:134102101-134102102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187081309	chr3:134102116-134102117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191116481	chr3:134102117-134102118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181136826	chr3:134102122-134102123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536151861	chr3:134102139-134102140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556035068	chr3:134102238-134102239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569416345	chr3:134102248-134102249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565297765	chr3:134102249-134102250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115918581	chr3:134102276-134102277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556987830	chr3:134102304-134102305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71331759	chr3:134102322-134102323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576775412	chr3:134102323-134102324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545355627	chr3:134102341-134102342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369957870	chr3:134102439-134102440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373279002	chr3:134102440-134102441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541252054	chr3:134102445-134102446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540919800	chr3:134102467-134102468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552854733	chr3:134102470-134102471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112783010	chr3:134102494-134102495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140924629	chr3:134102501-134102502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527647275	chr3:134102524-134102525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13084312	chr3:134102525-134102526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374668550	chr3:134102554-134102555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186447111	chr3:134102616-134102617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35471660	chr3:134102619-134102620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564570507	chr3:134102654-134102655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199752537	chr3:134102675-134102676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533368737	chr3:134102715-134102716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545042672	chr3:134102718-134102719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530359681	chr3:134102719-134102720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2400276	chr3:134102750-134102751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150479107	chr3:134102751-134102752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529647777	chr3:134102759-134102760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549628076	chr3:134102806-134102807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569370650	chr3:134102826-134102827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189653375	chr3:134102834-134102835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145216861	chr3:134102861-134102862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182327113	chr3:134102865-134102866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs149137756	chr3:134102866-134102867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552591515	chr3:134102973-134102974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79793729	chr3:134102980-134102981	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs541750935	chr3:134102993-134102994	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs555609595	chr3:134103007-134103008	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs111536327	chr3:134103030-134103031	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs544354194	chr3:134103032-134103033	Weak transcription	TF binding region	1 gene(s)	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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134096000-134102800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:134097400-134104000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:134098000-134107200	Weak transcription	Lung	lung
4	chr3:134098000-134111200	Weak transcription	Right Atrium	heart
5	chr3:134100000-134102000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr3:134100000-134102000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:134100200-134102000	Enhancers	Esophagus	oesophagus
8	chr3:134100200-134102000	Enhancers	Stomach Mucosa	stomach
9	chr3:134101200-134102000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:134101200-134103800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr3:134101200-134104000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:134101200-134104000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:134101200-134104200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:134101200-134106200	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:134101200-134108000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:134101400-134102000	Enhancers	NHEK	skin
17	chr3:134101400-134102200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:134101400-134103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:134101400-134104000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:134101400-134104200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:134101400-134106600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:134101400-134107400	Weak transcription	Fetal Lung	lung
23	chr3:134101400-134111600	Weak transcription	Pancreas	Pancrea
24	chr3:134102000-134107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:134102000-134111600	Weak transcription	Esophagus	oesophagus
26	chr3:134103800-134104200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:134103800-134104400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:134104000-134104200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:134104000-134104400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:134104000-134104400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:134104000-134104400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:134104000-134104600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:134104000-134104800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:134104200-134104600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:134104200-134104800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr3:134104200-134108000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:134104200-134108000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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