Variant report

Variant	nsv979880
Chromosome Location	chr3:136328491-136334122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:136322302..136324222-chr3:136333367..136335168,2	K562	blood:
2	chr3:136334079..136336516-chr3:136469054..136471144,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118007	chromatin interactions

Extended variants
information (count: 249 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:249 , 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	rs184274738	chr3:136328493-136328494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112307587	chr3:136328499-136328500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538998289	chr3:136328519-136328520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558504947	chr3:136328527-136328528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188837233	chr3:136328549-136328550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540719786	chr3:136328558-136328559	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560661038	chr3:136328580-136328581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574248896	chr3:136328587-136328588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543226174	chr3:136328605-136328606	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111776997	chr3:136328630-136328631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539812091	chr3:136328631-136328632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532423701	chr3:136328633-136328634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552230742	chr3:136328634-136328635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs67145204	chr3:136328665-136328666	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs191752546	chr3:136328782-136328783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114871677	chr3:136328789-136328790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567777994	chr3:136328811-136328812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547106716	chr3:136328812-136328813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550327043	chr3:136328825-136328826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112133184	chr3:136328840-136328841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570187735	chr3:136328847-136328848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539308498	chr3:136328868-136328869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371745492	chr3:136328895-136328896	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559032699	chr3:136328916-136328917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571990826	chr3:136328936-136328937	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376619906	chr3:136328991-136328992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540697727	chr3:136328995-136328996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201897798	chr3:136329027-136329028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538132467	chr3:136329080-136329081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371659590	chr3:136329094-136329095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs7645019	chr3:136329125-136329126	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs184730050	chr3:136329135-136329136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189196239	chr3:136329150-136329151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142064483	chr3:136329214-136329215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577013771	chr3:136329218-136329219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546032807	chr3:136329281-136329282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567340045	chr3:136329363-136329364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574232823	chr3:136329365-136329366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529755256	chr3:136329372-136329373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374087310	chr3:136329373-136329374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556188898	chr3:136329387-136329388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150680177	chr3:136329394-136329395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550046498	chr3:136329414-136329415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570227688	chr3:136329443-136329444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1803739	chr3:136329459-136329460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574536669	chr3:136329461-136329462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566045452	chr3:136329483-136329484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548907468	chr3:136329500-136329501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534288416	chr3:136329507-136329508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554130992	chr3:136329604-136329605	Weak transcription Enhancers	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	18451855	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:136247200-136334800	Weak transcription	Aorta	Aorta
2	chr3:136248200-136349200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:136268200-136351200	Weak transcription	Esophagus	oesophagus
4	chr3:136271200-136331400	Weak transcription	NHDF-Ad	bronchial
5	chr3:136272600-136335600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:136283800-136341800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:136284400-136337800	Weak transcription	Fetal Kidney	kidney
8	chr3:136285200-136335400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:136286800-136343600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:136287200-136335400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:136289600-136341800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:136290000-136351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:136297200-136345400	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:136297200-136351200	Weak transcription	Pancreas	Pancrea
15	chr3:136298600-136351600	Weak transcription	HSMM	muscle
16	chr3:136300000-136335400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:136300200-136351200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr3:136304800-136331200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:136304800-136331400	Weak transcription	NHLF	lung
20	chr3:136305200-136339400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:136305800-136338000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:136305800-136343800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:136306000-136341400	Weak transcription	Stomach Mucosa	stomach
24	chr3:136306200-136341800	Weak transcription	Fetal Brain Female	brain
25	chr3:136306200-136343400	Weak transcription	HepG2	liver
26	chr3:136308000-136357400	Weak transcription	Lung	lung
27	chr3:136313400-136344000	Weak transcription	Fetal Heart	heart
28	chr3:136314000-136330000	Weak transcription	Spleen	Spleen
29	chr3:136315200-136343800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:136315400-136356400	Weak transcription	Brain Anterior Caudate	brain
31	chr3:136315800-136334600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr3:136315800-136343600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:136315800-136344400	Weak transcription	Small Intestine	intestine
34	chr3:136315800-136346800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr3:136315800-136355600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr3:136315800-136361000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:136316000-136364400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr3:136318400-136342000	Weak transcription	Brain Substantia Nigra	brain
39	chr3:136319000-136344000	Weak transcription	NH-A	brain
40	chr3:136319200-136336000	Weak transcription	Right Ventricle	heart
41	chr3:136319400-136336000	Weak transcription	Fetal Thymus	thymus
42	chr3:136319600-136329600	Weak transcription	GM12878-XiMat	blood
43	chr3:136320600-136338200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:136320600-136338200	Weak transcription	Thymus	Thymus
45	chr3:136320800-136343800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr3:136320800-136356800	Weak transcription	Ovary	ovary
47	chr3:136321800-136335200	Weak transcription	Osteobl	bone
48	chr3:136322000-136339200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr3:136322200-136331200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr3:136322200-136355200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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