Variant report

Variant	nsv879672
Chromosome Location	chr4:101989816-102058842
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:102058000..102061139-chr4:102062648..102064879,3	MCF-7	breast:
2	chr4:102022887..102025645-chr4:102079207..102081284,2	MCF-7	breast:
3	chr4:102002819..102006552-chr4:102008416..102011880,4	MCF-7	breast:
4	chr4:102005836..102008616-chr4:102010594..102013431,2	K562	blood:
5	chr4:102005836..102008616-chr4:102010594..102013431,2	K562	blood:
6	chr4:102002819..102006552-chr4:102008416..102011880,4	MCF-7	breast:
7	chr4:102039346..102042301-chr4:102044157..102045962,2	MCF-7	breast:
8	chr4:102048414..102050219-chr4:102262763..102264265,2	MCF-7	breast:
9	chr4:102039346..102042301-chr4:102044157..102045962,2	MCF-7	breast:
10	chr12:70082527..70083460-chr4:102029317..102030043,2	HCT-116	colon:

No data

Variant related genes	Relation type
ENSG00000138814	chromatin interactions
ENSG00000127325	chromatin interactions

Extended variants
information (count: 2405 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:2405 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10516474	chr4:101989816-101989817	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574569356	chr4:101989854-101989855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184929417	chr4:101989865-101989866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561005535	chr4:101989917-101989918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147098642	chr4:101989938-101989939	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552791065	chr4:101990033-101990034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28668844	chr4:101990066-101990067	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189366594	chr4:101990108-101990109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532436896	chr4:101990140-101990141	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551247612	chr4:101990177-101990178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563086531	chr4:101990224-101990225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201020225	chr4:101990232-101990233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12504714	chr4:101990236-101990237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55681157	chr4:101990262-101990263	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62305886	chr4:101990318-101990319	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180938382	chr4:101990321-101990322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35202453	chr4:101990324-101990325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527406971	chr4:101990360-101990361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183730604	chr4:101990364-101990365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570416105	chr4:101990379-101990380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs537487604	chr4:101990444-101990445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556374119	chr4:101990533-101990534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138480023	chr4:101990547-101990548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527673788	chr4:101990558-101990559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73833209	chr4:101990564-101990565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373845921	chr4:101990589-101990590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140975306	chr4:101990610-101990611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60795704	chr4:101990664-101990665	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77794373	chr4:101990666-101990667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367693239	chr4:101990717-101990718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558667792	chr4:101990731-101990732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564626163	chr4:101990736-101990737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568402266	chr4:101990744-101990745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577166680	chr4:101990762-101990763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544283630	chr4:101990776-101990777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563159252	chr4:101990786-101990787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189712153	chr4:101990787-101990788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542415785	chr4:101990834-101990835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560650113	chr4:101990839-101990840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527926884	chr4:101990852-101990853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552296853	chr4:101990859-101990860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570453477	chr4:101990873-101990874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371279484	chr4:101990876-101990877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531294609	chr4:101990890-101990891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150223660	chr4:101990901-101990902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568317127	chr4:101991011-101991012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535341757	chr4:101991016-101991017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553683819	chr4:101991018-101991019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565531089	chr4:101991050-101991051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181317217	chr4:101991084-101991085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	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
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1182 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101941200-102000200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr4:101941200-102035600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:101942600-102003200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:101942600-102024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:101943800-102023400	Weak transcription	Fetal Lung	lung
6	chr4:101944400-102000200	Weak transcription	Fetal Stomach	stomach
7	chr4:101947800-102012600	Weak transcription	Fetal Muscle Leg	muscle
8	chr4:101953600-101992200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:101953600-102015200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:101959000-102023000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr4:101959600-101990600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:101959600-102003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:101960800-101995000	Weak transcription	HSMM	muscle
14	chr4:101960800-102004000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr4:101960800-102004200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:101960800-102019800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:101961000-102024600	Weak transcription	NHEK	skin
18	chr4:101961200-102024600	Weak transcription	Small Intestine	intestine
19	chr4:101961600-101995200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr4:101962200-102000200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:101966600-102003000	Weak transcription	Primary T cells from cord blood	blood
22	chr4:101966600-102007800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:101966800-101992200	Weak transcription	Ovary	ovary
24	chr4:101966800-102007800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:101971800-102000000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:101978000-101997600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:101978000-102024600	Weak transcription	Left Ventricle	heart
28	chr4:101978200-102002600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr4:101978400-102023000	Weak transcription	NHLF	lung
30	chr4:101979400-101997200	Weak transcription	Liver	Liver
31	chr4:101980000-102023200	Weak transcription	NHDF-Ad	bronchial
32	chr4:101980800-102004600	Strong transcription	Primary B cells from cord blood	blood
33	chr4:101981600-102010600	Weak transcription	Aorta	Aorta
34	chr4:101981800-102025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:101982000-101995200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr4:101982000-102023000	Weak transcription	Osteobl	bone
37	chr4:101982200-102005200	Weak transcription	A549	lung
38	chr4:101982400-101990400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:101982400-101994800	Weak transcription	HMEC	breast
40	chr4:101982400-101996200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:101982400-102002000	Weak transcription	Dnd41	blood
42	chr4:101982400-102003200	Weak transcription	Adipose Nuclei	Adipose
43	chr4:101982400-102024400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:101982600-101992200	Weak transcription	NH-A	brain
45	chr4:101984600-102003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:101984800-101994600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr4:101985600-101996200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr4:101986000-102010200	Weak transcription	Psoas Muscle	Psoas
49	chr4:101986200-102023000	Weak transcription	Fetal Brain Female	brain
50	chr4:101986400-101990400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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