Variant report

Variant	nsv961359
Chromosome Location	chr2:173691353-173695931
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	chr2:173684694..173687181-chr2:173690487..173692839,3	K562	blood:

Variant related genes	Relation type
ENSG00000091428	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559247144	chr2:173691389-173691390	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192550221	chr2:173691423-173691424	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs533209970	chr2:173691425-173691426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138990425	chr2:173691428-173691429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs569624774	chr2:173691443-173691444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576565770	chr2:173691453-173691454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs545539949	chr2:173691456-173691457	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183434965	chr2:173691465-173691466	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs113995373	chr2:173691466-173691467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567892230	chr2:173691545-173691546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559085904	chr2:173691574-173691575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141648225	chr2:173691616-173691617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571850191	chr2:173691641-173691642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572585127	chr2:173691670-173691671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143693612	chr2:173691671-173691672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541700343	chr2:173691692-173691693	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs59106041	chr2:173691693-173691694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs72908195	chr2:173691702-173691703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs397802735	chr2:173691703-173691704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12053036	chr2:173691709-173691710	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs188372093	chr2:173691713-173691714	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs554662132	chr2:173691753-173691754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572975612	chr2:173691784-173691785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs540833966	chr2:173691802-173691803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs559084425	chr2:173691814-173691815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76910898	chr2:173691831-173691832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148037604	chr2:173691859-173691860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs193185473	chr2:173691866-173691867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184657578	chr2:173691957-173691958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369566938	chr2:173691977-173691978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572373161	chr2:173692025-173692026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs189195710	chr2:173692042-173692043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567389807	chr2:173692127-173692128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528145993	chr2:173692138-173692139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs367576658	chr2:173692142-173692143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs547224296	chr2:173692160-173692161	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17705429	chr2:173692180-173692181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs13411673	chr2:173692206-173692207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141989757	chr2:173692290-173692291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs192592317	chr2:173692445-173692446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536270837	chr2:173692491-173692492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs72908196	chr2:173692538-173692539	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573013235	chr2:173692539-173692540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12477872	chr2:173692612-173692613	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183469855	chr2:173692617-173692618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72908198	chr2:173692656-173692657	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs72908199	chr2:173692675-173692676	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs150174340	chr2:173692796-173692797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575419582	chr2:173692811-173692812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542647337	chr2:173692881-173692882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173676000-173693400	Weak transcription	Fetal Heart	heart
2	chr2:173679200-173693800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:173679200-173708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:173686800-173693800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:173687800-173693600	Weak transcription	Left Ventricle	heart
6	chr2:173688200-173693400	Weak transcription	Right Atrium	heart
7	chr2:173688400-173693800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:173688400-173701000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:173689200-173693400	Weak transcription	Lung	lung
10	chr2:173689200-173699200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:173689200-173723200	Weak transcription	Esophagus	oesophagus
12	chr2:173690800-173692400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:173692400-173693600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:173693200-173694200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:173693400-173693800	Enhancers	Lung	lung
16	chr2:173693400-173694200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:173693400-173694200	Enhancers	Fetal Heart	heart
18	chr2:173693400-173694200	Enhancers	Placenta	Placenta
19	chr2:173693400-173694200	Enhancers	Right Atrium	heart
20	chr2:173693600-173694200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:173693600-173694200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:173693600-173694200	Enhancers	Left Ventricle	heart
23	chr2:173693800-173694200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:173693800-173694200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:173693800-173694200	Enhancers	Hela-S3	cervix
26	chr2:173693800-173694200	Enhancers	HMEC	breast
27	chr2:173693800-173694400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:173693800-173694400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:173693800-173694400	Enhancers	NHLF	lung
30	chr2:173693800-173694400	Enhancers	Osteobl	bone
31	chr2:173693800-173695400	Enhancers	NH-A	brain
32	chr2:173694000-173694200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:173694200-173698200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:173694200-173698200	Weak transcription	Hela-S3	cervix
35	chr2:173694200-173699600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:173694200-173699600	Weak transcription	Left Ventricle	heart
37	chr2:173694200-173699600	Weak transcription	Right Atrium	heart
38	chr2:173694200-173701000	Weak transcription	Placenta	Placenta
39	chr2:173694400-173694800	Weak transcription	Osteobl	bone
40	chr2:173694800-173695000	Enhancers	Osteobl	bone
41	chr2:173695000-173697600	Weak transcription	Osteobl	bone
42	chr2:173695400-173701000	Weak transcription	NH-A	brain
43	chr2:173695800-173696000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links