Variant report

Variant	nsv4025
Chromosome Location	chr3:136017458-136065622
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:136044505..136047310-chr3:136053454..136056821,3	MCF-7	breast:
2	chr3:136014329..136016765-chr3:136018806..136021350,2	MCF-7	breast:
3	chr3:136044505..136047310-chr3:136053454..136056821,3	MCF-7	breast:
4	chr3:136029722..136031537-chr3:136047190..136050098,2	MCF-7	breast:
5	chr3:136033614..136036060-chr3:136051639..136053164,2	MCF-7	breast:
6	chr3:135913060..135914977-chr3:136047197..136049788,2	K562	blood:
7	chr3:136043746..136046467-chr3:136047031..136048993,2	K562	blood:
8	chr3:136043746..136046467-chr3:136047031..136048993,2	K562	blood:
9	chr3:135915139..135916754-chr3:136035024..136037890,2	K562	blood:
10	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:
11	chr3:135969229..135971622-chr3:136043754..136046522,2	K562	blood:
12	chr3:136050884..136053004-chr3:136057100..136060594,3	K562	blood:
13	chr3:136029722..136031537-chr3:136047190..136050098,2	MCF-7	breast:
14	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:
15	chr3:136024808..136025625-chr3:136470874..136471604,2	MCF-7	breast:
16	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:
17	chr3:136012746..136014476-chr3:136025907..136027620,2	K562	blood:
18	chr3:136010183..136011753-chr3:136025540..136027566,2	K562	blood:
19	chr3:135914356..135915920-chr3:136030171..136032687,2	MCF-7	breast:
20	chr3:135910806..135913701-chr3:136047268..136049984,2	MCF-7	breast:
21	chr3:136049332..136050837-chr3:136449297..136451050,2	MCF-7	breast:
22	chr3:136056870..136058632-chr3:136058786..136060783,2	K562	blood:
23	chr3:136048349..136049959-chr3:136063905..136066760,2	K562	blood:
24	chr3:136062780..136064469-chr3:136066543..136068055,2	K562	blood:
25	chr3:135967729..135968689-chr3:136062451..136063319,2	MCF-7	breast:
26	chr3:136048349..136049959-chr3:136063905..136066760,2	K562	blood:
27	chr3:136050884..136053004-chr3:136057100..136060594,3	K562	blood:
28	chr3:135914307..135917128-chr3:136060550..136064409,7	MCF-7	breast:
29	chr3:136030321..136031240-chrX:106919908..106920687,2	NB4	blood:
30	chr3:136056019..136058370-chr3:136058786..136061509,2	K562	blood:
31	chr3:136056870..136058632-chr3:136058786..136060783,2	K562	blood:
32	chr3:136056019..136058370-chr3:136058786..136061509,2	K562	blood:
33	chr3:135913296..135916091-chr3:136051833..136053446,2	MCF-7	breast:
34	chr3:136033614..136036060-chr3:136051639..136053164,2	MCF-7	breast:
35	chr3:136061498..136064773-chr3:136469426..136473116,3	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PCCB	hsa-miR-378a-3p	chr3:136046062-136046084

Variant related genes	Relation type
ENSG00000114054	chromatin interactions
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions
ENSG00000174579	chromatin interactions

Extended variants
information (count: 1955 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1955 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548196039	chr3:136017472-136017473	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567947202	chr3:136017475-136017476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149331312	chr3:136017569-136017570	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146238072	chr3:136017596-136017597	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138039998	chr3:136017624-136017625	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191371898	chr3:136017786-136017787	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553591880	chr3:136017810-136017811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142410269	chr3:136017819-136017820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376024020	chr3:136017827-136017828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183080618	chr3:136017839-136017840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555798440	chr3:136017849-136017850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187629628	chr3:136017937-136017938	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544550043	chr3:136017940-136017941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112954243	chr3:136017953-136017954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192582843	chr3:136017958-136017959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145972540	chr3:136017985-136017986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556245961	chr3:136018013-136018014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545639694	chr3:136018016-136018017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72229757	chr3:136018040-136018041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114312300	chr3:136018050-136018051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528223547	chr3:136018054-136018055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184993788	chr3:136018077-136018078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148648772	chr3:136018078-136018079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530424838	chr3:136018108-136018109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374314660	chr3:136018116-136018117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550551851	chr3:136018117-136018118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544587108	chr3:136018137-136018138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34031772	chr3:136018141-136018142	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371348355	chr3:136018160-136018161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs546819299	chr3:136018171-136018172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375542881	chr3:136018178-136018179	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368311019	chr3:136018221-136018222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs567087006	chr3:136018225-136018226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550434719	chr3:136018231-136018232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188002803	chr3:136018254-136018255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548129500	chr3:136018265-136018266	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369706627	chr3:136018279-136018280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575147065	chr3:136018318-136018319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558814963	chr3:136018321-136018322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569294385	chr3:136018322-136018323	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537893862	chr3:136018331-136018332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192468832	chr3:136018332-136018333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527459645	chr3:136018352-136018353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539331426	chr3:136018370-136018371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552813857	chr3:136018371-136018372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572973163	chr3:136018372-136018373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72440492	chr3:136018381-136018382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375404099	chr3:136018437-136018438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111162477	chr3:136018459-136018460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368778789	chr3:136018477-136018478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1505 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135970600-136039400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:135976200-136021600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:135981200-136052000	Weak transcription	NH-A	brain
4	chr3:135981600-136020400	Weak transcription	HUVEC	blood vessel
5	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:135999800-136019000	Weak transcription	NHEK	skin
7	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
8	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
9	chr3:136000000-136024600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr3:136001200-136019200	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:136004600-136021400	Weak transcription	HMEC	breast
13	chr3:136004600-136022000	Weak transcription	NHDF-Ad	bronchial
14	chr3:136005200-136019200	Weak transcription	Osteobl	bone
15	chr3:136009400-136023000	Strong transcription	Dnd41	blood
16	chr3:136010000-136017800	Strong transcription	Primary T cells from cord blood	blood
17	chr3:136010000-136021000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:136010000-136021000	Strong transcription	Liver	Liver
19	chr3:136010200-136021200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:136010400-136021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:136010400-136021000	Strong transcription	Fetal Muscle Leg	muscle
22	chr3:136010400-136021000	Strong transcription	Fetal Stomach	stomach
23	chr3:136010600-136018000	Weak transcription	Fetal Heart	heart
24	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
25	chr3:136010800-136020600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:136011000-136024600	Weak transcription	Psoas Muscle	Psoas
27	chr3:136011200-136020800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:136011800-136018000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr3:136011800-136020600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr3:136011800-136021000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:136012000-136017800	Strong transcription	Lung	lung
32	chr3:136012000-136020800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:136012000-136020800	Strong transcription	Adipose Nuclei	Adipose
34	chr3:136012000-136021200	Strong transcription	Brain Substantia Nigra	brain
35	chr3:136012200-136017600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr3:136012200-136020600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr3:136012200-136020600	Strong transcription	Brain Cingulate Gyrus	brain
38	chr3:136012200-136021000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:136012200-136021200	Strong transcription	Brain Hippocampus Middle	brain
40	chr3:136012200-136021200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr3:136012400-136018000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:136012400-136020800	Strong transcription	Primary B cells from peripheral blood	blood
43	chr3:136012400-136021200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr3:136012600-136020600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:136012600-136020800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:136012600-136020800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr3:136012600-136021000	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
49	chr3:136012800-136019800	Weak transcription	HSMMtube	muscle
50	chr3:136013200-136017800	Strong transcription	HepG2	liver

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