Variant report

Variant	nsv979155
Chromosome Location	chr2:183628012-183632674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183632424..183632937-chr2:183844464..183845026,2	K562	blood:
2	chr2:183579077..183581279-chr2:183626504..183629491,2	K562	blood:
3	chr2:183628146..183628821-chr2:183844437..183845367,4	K562	blood:

Variant related genes	Relation type
ENSG00000077232	chromatin interactions

Extended variants
information (count: 206 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:206 , 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	rs563375994	chr2:183628048-183628049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575221944	chr2:183628119-183628120	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs544310679	chr2:183628136-183628137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369617742	chr2:183628140-183628141	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565983342	chr2:183628148-183628149	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs563493143	chr2:183628168-183628169	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370145514	chr2:183628185-183628186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114965253	chr2:183628187-183628188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549255104	chr2:183628198-183628199	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113811858	chr2:183628227-183628228	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138992119	chr2:183628273-183628274	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142378335	chr2:183628310-183628311	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551455908	chr2:183628336-183628337	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs145930490	chr2:183628354-183628355	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374862621	chr2:183628360-183628361	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17356804	chr2:183628376-183628377	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs6761415	chr2:183628401-183628402	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs567468146	chr2:183628475-183628476	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs536492962	chr2:183628526-183628527	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188377011	chr2:183628601-183628602	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs80119122	chr2:183628607-183628608	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs80222149	chr2:183628611-183628612	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77850329	chr2:183628664-183628665	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558234567	chr2:183628682-183628683	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575205840	chr2:183628715-183628716	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs191684698	chr2:183628740-183628741	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149699545	chr2:183628752-183628753	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573879522	chr2:183628756-183628757	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75130699	chr2:183628764-183628765	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs185149237	chr2:183628791-183628792	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144493323	chr2:183628793-183628794	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148465745	chr2:183628850-183628851	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565084155	chr2:183628890-183628891	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs546159794	chr2:183628903-183628904	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530983806	chr2:183628909-183628910	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372468850	chr2:183628931-183628932	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs288295	chr2:183628964-183628965	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs190405603	chr2:183629050-183629051	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182042088	chr2:183629085-183629086	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13411826	chr2:183629115-183629116	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs142594442	chr2:183629158-183629159	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs201720291	chr2:183629199-183629200	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538515994	chr2:183629200-183629201	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs372013874	chr2:183629244-183629245	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558859509	chr2:183629269-183629270	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs530492635	chr2:183629288-183629289	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs151010681	chr2:183629289-183629290	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs116117738	chr2:183629312-183629313	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187595014	chr2:183629339-183629340	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs574164382	chr2:183629358-183629359	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
2	chr2:183581800-183647600	Weak transcription	Gastric	stomach
3	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
4	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:183608000-183628200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
8	chr2:183610000-183638800	Weak transcription	Lung	lung
9	chr2:183610200-183628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:183610200-183631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:183610200-183633200	Weak transcription	Spleen	Spleen
12	chr2:183610200-183639000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:183614400-183631200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:183614400-183632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:183614400-183632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:183614400-183633200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:183614400-183633400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:183614400-183633400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:183614400-183633800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:183614400-183634200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:183614600-183630000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:183614600-183633200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:183614600-183633600	Strong transcription	Fetal Intestine Large	intestine
24	chr2:183614600-183633600	Strong transcription	Dnd41	blood
25	chr2:183614600-183633800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:183614600-183634000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:183614600-183634000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:183614800-183632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:183615200-183633400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:183615200-183633600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr2:183615600-183628200	Weak transcription	Fetal Brain Male	brain
32	chr2:183616200-183630800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:183618600-183629000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:183618600-183631200	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr2:183618600-183631200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:183619000-183633400	Strong transcription	Primary B cells from cord blood	blood
37	chr2:183619200-183628600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:183619400-183633600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr2:183619400-183633800	Strong transcription	Primary T cells from cord blood	blood
40	chr2:183619600-183633600	Strong transcription	NH-A	brain
41	chr2:183619800-183630400	Strong transcription	HUVEC	blood vessel
42	chr2:183620200-183633400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:183620400-183634000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:183620800-183633600	Strong transcription	Fetal Thymus	thymus
45	chr2:183621000-183629200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:183621000-183631000	Strong transcription	NHLF	lung
47	chr2:183621600-183631600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:183621800-183629200	Strong transcription	K562	blood
49	chr2:183621800-183629600	Strong transcription	NHEK	skin
50	chr2:183622400-183633800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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