Variant report

Variant	nsv875806
Chromosome Location	chr2:212997024-213211067
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:
2	chr2:213008616..213011501-chr2:213014184..213015998,2	MCF-7	breast:
3	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
4	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
5	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
6	chr2:213110335..213112278-chr2:213114371..213115906,2	MCF-7	breast:
7	chr2:213108853..213110992-chr2:213114605..213117467,2	MCF-7	breast:
8	chr2:213032041..213033643-chr2:213036583..213039398,2	MCF-7	breast:
9	chr2:213040589..213042469-chr2:213044836..213047782,2	MCF-7	breast:
10	chr2:213145552..213149044-chr2:213151103..213154081,3	MCF-7	breast:
11	chr2:213060297..213061134-chr7:82083640..82084485,2	MCF-7	breast:
12	chr2:213040589..213042469-chr2:213044836..213047782,2	MCF-7	breast:
13	chr2:212824327..212826321-chr2:213119385..213121248,2	MCF-7	breast:
14	chr2:213032041..213033643-chr2:213036583..213039398,2	MCF-7	breast:
15	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
16	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
17	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
18	chr2:213042144..213043012-chr2:213382544..213383068,2	MCF-7	breast:
19	chr2:213133438..213135317-chr2:213137687..213139229,2	K562	blood:
20	chr2:213087806..213089470-chr2:213104320..213105941,2	MCF-7	breast:
21	chr2:212744009..212744725-chr2:213042131..213043046,2	MCF-7	breast:
22	chr2:213087806..213089470-chr2:213104320..213105941,2	MCF-7	breast:
23	chr2:213011348..213014001-chr2:213021143..213023419,2	MCF-7	breast:
24	chr2:213169330..213171305-chr2:213174705..213177385,2	MCF-7	breast:
25	chr2:213008616..213011501-chr2:213014184..213015998,2	MCF-7	breast:
26	chr2:213165115..213165752-chr21:42883583..42884373,2	MCF-7	breast:
27	chr2:213169267..213171740-chr2:213191721..213193864,2	MCF-7	breast:
28	chr2:213202563..213204297-chr2:213206010..213208677,2	K562	blood:
29	chr2:213011348..213014001-chr2:213021143..213023419,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178568	chromatin interactions

Extended variants
information (count: 6328 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:6328 , 50 per page) page: 1 2 3 4 5 6 7 ... 127

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11680307	chr2:212997024-212997025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537684892	chr2:212997026-212997027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111478579	chr2:212997070-212997071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574240946	chr2:212997075-212997076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180879061	chr2:212997084-212997085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553490328	chr2:212997089-212997090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73987242	chr2:212997163-212997164	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs545393686	chr2:212997173-212997174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369069531	chr2:212997212-212997213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs185238064	chr2:212997216-212997217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557321290	chr2:212997231-212997232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551347963	chr2:212997321-212997322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74530279	chr2:212997339-212997340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575508448	chr2:212997362-212997363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72939823	chr2:212997367-212997368	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191170465	chr2:212997438-212997439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554539223	chr2:212997440-212997441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566777432	chr2:212997452-212997453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72939826	chr2:212997458-212997459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181516126	chr2:212997492-212997493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532506257	chr2:212997504-212997505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13384295	chr2:212997511-212997512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs138559548	chr2:212997513-212997514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537747054	chr2:212997523-212997524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72939829	chr2:212997540-212997541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567865296	chr2:212997562-212997563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141653583	chr2:212997574-212997575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73071225	chr2:212997607-212997608	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553794800	chr2:212997635-212997636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7424881	chr2:212997645-212997646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536399373	chr2:212997669-212997670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191938093	chr2:212997725-212997726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545808472	chr2:212997728-212997729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs373192133	chr2:212997771-212997772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146173722	chr2:212997793-212997794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544877266	chr2:212997800-212997801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs200031338	chr2:213000207-213000208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543703705	chr2:213000220-213000221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563479434	chr2:213000235-213000236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372404262	chr2:213000261-213000262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191012934	chr2:213000263-213000264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542826915	chr2:213000267-213000268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559208444	chr2:213000275-213000276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs13394886	chr2:213000338-213000339	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565493613	chr2:213000383-213000384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551126981	chr2:213000457-213000458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs147978249	chr2:213000464-213000465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532723097	chr2:213000519-213000520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371366893	chr2:213000568-213000569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs76200496	chr2:213000575-213000576	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD

Chromatin state (count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212997000-212997800	Enhancers	Fetal Brain Male	brain
2	chr2:213000200-213000800	Enhancers	HUVEC	blood vessel
3	chr2:213000400-213000800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:213000400-213000800	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr2:213000400-213000800	Enhancers	Fetal Brain Female	brain
6	chr2:213000400-213000800	Enhancers	NHLF	lung
7	chr2:213000400-213001000	Enhancers	Brain Hippocampus Middle	brain
8	chr2:213000400-213001200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:213000400-213001400	Enhancers	Fetal Heart	heart
10	chr2:213000400-213001400	Enhancers	Fetal Intestine Small	intestine
11	chr2:213000400-213001600	Enhancers	Fetal Intestine Large	intestine
12	chr2:213000600-213001000	Enhancers	Brain Anterior Caudate	brain
13	chr2:213000600-213001400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:213000600-213001400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:213001000-213001200	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:213001000-213001400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:213001400-213003000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:213001400-213003600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:213001400-213009400	Weak transcription	Fetal Heart	heart
20	chr2:213001600-213003000	Weak transcription	Fetal Intestine Large	intestine
21	chr2:213003000-213003400	Enhancers	Fetal Intestine Large	intestine
22	chr2:213003000-213003400	Enhancers	Fetal Intestine Small	intestine
23	chr2:213003400-213009400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:213007400-213008600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:213008600-213009000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:213009000-213009400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:213009200-213011000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:213009400-213009600	Enhancers	Fetal Intestine Small	intestine
29	chr2:213009400-213010000	Enhancers	Fetal Intestine Large	intestine
30	chr2:213009400-213010600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:213009400-213011000	Enhancers	Fetal Heart	heart
32	chr2:213009400-213011000	Enhancers	Osteobl	bone
33	chr2:213009600-213010400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:213009600-213010400	Weak transcription	Fetal Intestine Small	intestine
35	chr2:213009600-213010600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:213010000-213010400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:213010200-213010600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:213010200-213010800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:213010400-213011200	Enhancers	Fetal Intestine Large	intestine
40	chr2:213010400-213011600	Enhancers	Fetal Intestine Small	intestine
41	chr2:213010600-213011000	Enhancers	Aorta	Aorta
42	chr2:213010600-213011000	Enhancers	Brain Substantia Nigra	brain
43	chr2:213010600-213011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:213010800-213012600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:213011000-213011600	Active TSS	Aorta	Aorta
46	chr2:213011200-213011400	Enhancers	Brain Angular Gyrus	brain
47	chr2:213012600-213013000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:213013000-213018400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:213017000-213019200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:213017400-213017600	Enhancers	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links