Variant report

Variant	nsv594938
Chromosome Location	chr4:98976003-99027184
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:99001766..99003673-chr4:99063340..99066059,2	MCF-7	breast:
2	chr4:98995356..98997429-chr4:98998775..99000432,2	MCF-7	breast:
3	chr4:98967509..98968412-chr4:99013843..99014513,4	MCF-7	breast:
4	chr4:98995356..98997429-chr4:98998775..99000432,2	MCF-7	breast:
5	chr4:99002780..99005606-chr4:99010089..99012416,2	MCF-7	breast:
6	chr4:99002780..99005606-chr4:99010089..99012416,2	MCF-7	breast:
7	chr4:98765331..98767165-chr4:99012892..99015543,2	K562	blood:
8	chr4:99012356..99014792-chr4:99062792..99064417,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163116	chromatin interactions

Extended variants
information (count: 291 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:291 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188725328	chr4:98982416-98982417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34509663	chr4:98982531-98982532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs551285497	chr4:98982539-98982540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569530604	chr4:98982557-98982558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536840379	chr4:98982589-98982590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7682991	chr4:98982595-98982596	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs377255674	chr4:98982696-98982697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201764593	chr4:98982758-98982759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140688920	chr4:98982766-98982767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386677630	chr4:98982767-98982768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373422429	chr4:98982768-98982769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1727269	chr4:98982769-98982770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs398063845	chr4:98982771-98982772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540794786	chr4:98982787-98982788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28415600	chr4:98998667-98998668	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574937205	chr4:98998705-98998706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541990288	chr4:98998711-98998712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560711750	chr4:98998827-98998828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560665164	chr4:98998848-98998849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116470471	chr4:98998868-98998869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546218611	chr4:98998882-98998883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs11932942	chr4:98998939-98998940	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560150087	chr4:98998955-98998956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116474705	chr4:98998961-98998962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567249868	chr4:98998988-98998989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550612652	chr4:98999038-98999039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569089024	chr4:98999041-98999042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147781873	chr4:98999102-98999103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2555390	chr4:98999112-98999113	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs199900583	chr4:98999191-98999192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397994652	chr4:98999197-98999198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552326911	chr4:98999329-98999330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569138871	chr4:98999367-98999368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566997258	chr4:98999379-98999380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531870754	chr4:98999389-98999390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534283468	chr4:98999403-98999404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139465213	chr4:98999426-98999427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577176079	chr4:98999451-98999452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs35951881	chr4:98999474-98999475	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556600488	chr4:98999545-98999546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575043393	chr4:98999630-98999631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186273172	chr4:98999663-98999664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189380622	chr4:98999670-98999671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572650416	chr4:98999694-98999695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17550217	chr4:98999699-98999700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs564954871	chr4:98999722-98999723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182020262	chr4:98999730-98999731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572555237	chr4:98999740-98999741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187455164	chr4:98999755-98999756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190662071	chr4:98999765-98999766	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	19197363	CNVD
Melanoma	20688739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Gastric cancer	16891809	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:98982400-98982800	Enhancers	Dnd41	blood
2	chr4:98998600-99000000	Enhancers	Dnd41	blood
3	chr4:99014600-99015800	Enhancers	HMEC	breast
4	chr4:99014600-99016000	Enhancers	Fetal Intestine Large	intestine
5	chr4:99014600-99016000	Enhancers	Fetal Intestine Small	intestine
6	chr4:99014800-99015800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:99014800-99015800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:99014800-99016000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:99014800-99016000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:99014800-99016000	Enhancers	NHEK	skin
11	chr4:99015000-99016000	Enhancers	Stomach Mucosa	stomach
12	chr4:99015000-99016200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:99015600-99016000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:99025200-99026200	Weak transcription	Brain Substantia Nigra	brain

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