Variant report

Variant	nsv591849
Chromosome Location	chr3:136024692-136027549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:136010183..136011753-chr3:136025540..136027566,2	K562	blood:
2	chr3:136012746..136014476-chr3:136025907..136027620,2	K562	blood:
3	chr3:136024388..136025351-chr3:136470886..136471672,6	MCF-7	breast:
4	chr3:136024808..136025625-chr3:136470874..136471604,2	MCF-7	breast:
5	chr3:136025488..136027450-chr3:136031580..136034154,2	K562	blood:

Variant related genes	Relation type
ENSG00000118007	chromatin interactions
ENSG00000261758	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143551712	chr3:136024730-136024731	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs562688020	chr3:136024816-136024817	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs531670866	chr3:136024826-136024827	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs145751032	chr3:136024983-136024984	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138676651	chr3:136025056-136025057	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112425699	chr3:136025065-136025066	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs527655465	chr3:136025083-136025084	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs182086423	chr3:136025102-136025103	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs546873339	chr3:136025242-136025243	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7613584	chr3:136025319-136025320	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144063788	chr3:136025354-136025355	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs527989097	chr3:136025439-136025440	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555581503	chr3:136025511-136025512	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs569010073	chr3:136025629-136025630	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537957697	chr3:136025779-136025780	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557861228	chr3:136025791-136025792	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113087809	chr3:136025876-136025877	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs577569943	chr3:136025908-136025909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs539806099	chr3:136025925-136025926	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs73863335	chr3:136025932-136025933	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs574249845	chr3:136025982-136025983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs542839812	chr3:136026004-136026005	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs562725533	chr3:136026133-136026134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs576195315	chr3:136026186-136026187	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs200618510	chr3:136026198-136026199	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs376889621	chr3:136026199-136026200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558139695	chr3:136026225-136026226	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576356415	chr3:136026256-136026257	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370430168	chr3:136026260-136026261	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527692237	chr3:136026261-136026262	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552689352	chr3:136026314-136026315	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs547463480	chr3:136026328-136026329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs570161211	chr3:136026338-136026339	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs544535816	chr3:136026474-136026475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71157372	chr3:136026482-136026483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112278391	chr3:136026484-136026485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552497263	chr3:136026487-136026488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372363847	chr3:136026501-136026502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76777131	chr3:136026508-136026509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140030168	chr3:136026530-136026531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186686141	chr3:136026543-136026544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537992645	chr3:136026544-136026545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556170282	chr3:136026559-136026560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565727304	chr3:136026588-136026589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551465523	chr3:136026589-136026590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376343536	chr3:136026707-136026708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533832130	chr3:136026731-136026732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538301061	chr3:136026732-136026733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144801801	chr3:136026819-136026820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375988791	chr3:136026820-136026821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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

Chromatin state (count:140 , 50 per page) page: 1 2 3

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	chr3:135981200-136052000	Weak transcription	NH-A	brain
3	chr3:135998000-136040200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:135999800-136038200	Weak transcription	Fetal Brain Male	brain
5	chr3:135999800-136061200	Weak transcription	Hela-S3	cervix
6	chr3:136000200-136038200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr3:136010600-136031400	Weak transcription	Stomach Mucosa	stomach
8	chr3:136012600-136024800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr3:136014200-136040000	Weak transcription	Small Intestine	intestine
10	chr3:136015000-136038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr3:136016400-136038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:136016800-136045600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:136017000-136040000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr3:136018200-136051400	Weak transcription	A549	lung
15	chr3:136019000-136038600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr3:136020200-136024800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:136020200-136036400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:136020200-136039000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:136020200-136040200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:136020200-136045200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:136020400-136030200	Weak transcription	Pancreas	Pancrea
22	chr3:136020400-136038400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:136020400-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:136020400-136045200	Weak transcription	Colonic Mucosa	Colon
25	chr3:136020600-136024800	Weak transcription	Primary B cells from cord blood	blood
26	chr3:136020600-136035000	Weak transcription	Fetal Brain Female	brain
27	chr3:136020600-136035200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr3:136020600-136035600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr3:136020600-136035600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:136020600-136035600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:136020600-136035800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:136020600-136035800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr3:136020600-136035800	Weak transcription	Aorta	Aorta
34	chr3:136020600-136035800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:136020600-136036000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:136020600-136036200	Weak transcription	Lung	lung
37	chr3:136020600-136036400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr3:136020600-136038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:136020600-136038200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:136020600-136045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:136020600-136045200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:136020800-136030200	Weak transcription	Fetal Intestine Large	intestine
43	chr3:136020800-136030200	Weak transcription	Left Ventricle	heart
44	chr3:136020800-136035000	Weak transcription	Adipose Nuclei	Adipose
45	chr3:136020800-136035600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:136020800-136035600	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr3:136020800-136035600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:136020800-136035600	Weak transcription	K562	blood
49	chr3:136020800-136035800	Weak transcription	Fetal Lung	lung
50	chr3:136020800-136035800	Weak transcription	Ovary	ovary

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