Variant report

Variant	nsv1012283
Chromosome Location	chr4:18436363-18477654
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:18439763..18441872-chr4:18443790..18445400,2	MCF-7	breast:
2	chr4:18451801..18454507-chr4:18457086..18460351,3	MCF-7	breast:
3	chr4:18457077..18459764-chr4:18460036..18463012,2	K562	blood:
4	chr4:18439763..18441872-chr4:18443790..18445400,2	MCF-7	breast:
5	chr4:18457077..18459764-chr4:18460036..18463012,2	K562	blood:
6	chr4:18451801..18454507-chr4:18457086..18460351,3	MCF-7	breast:
7	chr4:18429724..18430256-chr4:18457601..18458426,2	MCF-7	breast:
8	chr4:18429835..18431844-chr4:18435350..18437045,2	K562	blood:

No data

Extended variants
information (count: 670 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370031905	chr4:18437213-18437214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538615667	chr4:18437218-18437219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190983054	chr4:18437283-18437284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576864878	chr4:18437297-18437298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544296265	chr4:18437324-18437325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562436864	chr4:18437351-18437352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183442822	chr4:18437393-18437394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570505956	chr4:18437468-18437469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553853469	chr4:18437498-18437499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560046420	chr4:18437613-18437614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187673965	chr4:18437633-18437634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552020996	chr4:18437652-18437653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570522652	chr4:18437662-18437663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117299746	chr4:18437665-18437666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373486861	chr4:18437679-18437680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568453242	chr4:18437746-18437747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539742179	chr4:18437760-18437761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554093594	chr4:18437774-18437775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192230553	chr4:18437777-18437778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540146179	chr4:18437791-18437792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558445234	chr4:18437803-18437804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184242796	chr4:18437864-18437865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12646743	chr4:18437923-18437924	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs556255728	chr4:18437934-18437935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574429548	chr4:18437935-18437936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76099232	chr4:18437994-18437995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537314051	chr4:18438023-18438024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187030263	chr4:18438058-18438059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527445526	chr4:18438083-18438084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545696605	chr4:18438117-18438118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149074885	chr4:18438156-18438157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531773062	chr4:18438197-18438198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371984533	chr4:18438225-18438226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34511880	chr4:18438306-18438307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535656105	chr4:18438442-18438443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369633052	chr4:18438549-18438550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75788216	chr4:18438552-18438553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192560517	chr4:18438558-18438559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529383826	chr4:18438600-18438601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs373504723	chr4:18438620-18438621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547829559	chr4:18438644-18438645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184849000	chr4:18438721-18438722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370080279	chr4:18438823-18438824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546066810	chr4:18438858-18438859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199894366	chr4:18438873-18438874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs10805363	chr4:18438875-18438876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs201978095	chr4:18438879-18438880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376268518	chr4:18438881-18438882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13119621	chr4:18438883-18438884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71167362	chr4:18438904-18438905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18437200-18438200	Enhancers	Fetal Intestine Small	intestine
2	chr4:18437400-18437800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr4:18438000-18438600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:18438200-18440000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:18439400-18439600	Enhancers	Fetal Intestine Large	intestine
6	chr4:18440000-18440200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr4:18440200-18441000	Enhancers	Fetal Intestine Large	intestine
8	chr4:18440200-18442200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:18441000-18442200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:18441600-18443200	Enhancers	Adipose Nuclei	Adipose
11	chr4:18442000-18442800	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr4:18442200-18442800	Enhancers	Fetal Intestine Large	intestine
13	chr4:18442200-18443000	Enhancers	Fetal Intestine Small	intestine
14	chr4:18442200-18443400	Enhancers	Brain Germinal Matrix	brain
15	chr4:18442400-18443000	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr4:18442400-18443000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:18442400-18443000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:18442400-18443200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:18442600-18443000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:18442800-18443000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr4:18442800-18444600	Weak transcription	Fetal Intestine Large	intestine
22	chr4:18443000-18443200	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr4:18443000-18445000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:18444600-18444800	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr4:18444600-18446600	Enhancers	Fetal Intestine Large	intestine
26	chr4:18445000-18445400	Enhancers	Fetal Intestine Small	intestine
27	chr4:18445400-18445600	Weak transcription	Fetal Intestine Small	intestine
28	chr4:18445600-18446000	Enhancers	Fetal Intestine Small	intestine
29	chr4:18447800-18448000	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr4:18448400-18448800	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:18456200-18456400	Enhancers	Fetal Intestine Small	intestine
32	chr4:18456200-18456600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr4:18458200-18458400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:18458200-18458600	Enhancers	Fetal Intestine Large	intestine
35	chr4:18458200-18458800	Enhancers	Fetal Intestine Small	intestine
36	chr4:18460200-18460600	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr4:18465200-18466000	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr4:18466000-18468800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr4:18468800-18469600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr4:18475600-18477200	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr4:18475800-18477600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:18476000-18477400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr4:18477200-18481000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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