Variant report

Variant	nsv965213
Chromosome Location	chr3:135920236-135925920
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr3:135925113-135925196	K562	blood:	n/a	n/a
2	POLR2A	chr3:135921914-135922008	ProgFib	skin:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:135913662..135918303-chr3:135918792..135923600,7	K562	blood:
2	chr3:135913726..135915628-chr3:135923532..135925229,2	MCF-7	breast:
3	chr3:135914359..135917940-chr3:135918665..135923350,9	MCF-7	breast:
4	chr3:135912324..135920790-chr3:135965276..135971841,24	K562	blood:
5	chr3:135915695..135917970-chr3:135924534..135927537,3	K562	blood:
6	chr3:135914663..135917728-chr3:135920669..135925255,5	MCF-7	breast:

No data

Variant related genes	Relation type
MSL2	TF binding region
ENSG00000244740	TF binding region
ENSG00000174579	chromatin interactions
ENSG00000114054	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112188795	chr3:135920247-135920248	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200619950	chr3:135920259-135920260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs563600074	chr3:135920260-135920261	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151312790	chr3:135920268-135920269	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549979108	chr3:135920311-135920312	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs373417529	chr3:135920320-135920321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs80280496	chr3:135920333-135920334	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs567787253	chr3:135920347-135920348	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532586578	chr3:135920356-135920357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs186469958	chr3:135920399-135920400	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189718964	chr3:135920404-135920405	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs76320090	chr3:135920428-135920429	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs553941058	chr3:135920454-135920455	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567313344	chr3:135920455-135920456	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs181192008	chr3:135920520-135920521	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs144333265	chr3:135920543-135920544	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575714169	chr3:135920583-135920584	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs185244294	chr3:135920605-135920606	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs146541095	chr3:135920611-135920612	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558085085	chr3:135920640-135920641	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs189670742	chr3:135920673-135920674	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs541331694	chr3:135920722-135920723	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183268422	chr3:135920732-135920733	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs530260317	chr3:135920736-135920737	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs376104119	chr3:135920741-135920742	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543981730	chr3:135920745-135920746	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563813899	chr3:135920758-135920759	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536042208	chr3:135920778-135920779	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556349583	chr3:135920782-135920783	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs552605800	chr3:135920814-135920815	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566038137	chr3:135920819-135920820	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs141242828	chr3:135920843-135920844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11719042	chr3:135920846-135920847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs150155471	chr3:135920917-135920918	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs567526448	chr3:135920943-135920944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536088247	chr3:135921003-135921004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12623596	chr3:135921193-135921194	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13255725	chr3:135921196-135921197	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs138644349	chr3:135921203-135921204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374390880	chr3:135921209-135921210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538308217	chr3:135921264-135921265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs36024436	chr3:135921266-135921267	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538508206	chr3:135921277-135921278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs148914590	chr3:135921280-135921281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs571921851	chr3:135921319-135921320	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs186069153	chr3:135921322-135921323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74588601	chr3:135921450-135921451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs554998236	chr3:135921454-135921455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs79491414	chr3:135921471-135921472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575068351	chr3:135921478-135921479	Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18511947	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135916200-135922600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:135917200-135922400	Weak transcription	HUVEC	blood vessel
3	chr3:135917400-135922000	Weak transcription	HepG2	liver
4	chr3:135922000-135923400	Enhancers	HepG2	liver
5	chr3:135922600-135922800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:135923400-135931400	Weak transcription	HepG2	liver
7	chr3:135924400-135927000	Enhancers	Brain Germinal Matrix	brain
8	chr3:135924800-135927200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr3:135925400-135926200	Enhancers	Fetal Brain Male	brain
10	chr3:135925800-135926400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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