Variant report

Variant	nsv878723
Chromosome Location	chr4:18668957-19005988
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
2	chr4:18683202..18686067-chr4:18714292..18716968,2	K562	blood:
3	chr4:18738288..18740085-chr4:18768296..18770418,2	K562	blood:
4	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
5	chr4:18687781..18689370-chr4:18694986..18697418,2	MCF-7	breast:
6	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
7	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
8	chr4:18709915..18712591-chr4:18716266..18718533,2	K562	blood:
9	chr4:18814463..18816905-chr4:18817927..18821007,3	K562	blood:
10	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
11	chr1:214613502..214615367-chr4:18740993..18743992,2	MCF-7	breast:
12	chr4:18736521..18738604-chr4:18741262..18743642,2	K562	blood:
13	chr1:149857381..149859759-chr4:18677015..18679993,2	MCF-7	breast:
14	chr4:18694436..18696661-chr4:18715695..18717251,2	K562	blood:
15	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
16	chr4:18687781..18689370-chr4:18694986..18697418,2	MCF-7	breast:
17	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
18	chr4:18694436..18696661-chr4:18715695..18717251,2	K562	blood:
19	chr4:18853564..18855198-chr4:18858521..18861187,2	MCF-7	breast:
20	chr4:18709915..18712591-chr4:18716266..18718533,2	K562	blood:
21	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
22	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
23	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
24	chr20:13757227..13757777-chr4:18756763..18757484,2	MCF-7	breast:
25	chr4:18736521..18738604-chr4:18741262..18743642,2	K562	blood:
26	chr4:18683202..18686067-chr4:18714292..18716968,2	K562	blood:
27	chr19:49990781..49991366-chr4:19000460..19000979,2	HCT-116	colon:
28	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
29	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
30	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
31	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
32	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
33	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
34	chr4:18814463..18816905-chr4:18817927..18821007,3	K562	blood:
35	chr4:18853564..18855198-chr4:18858521..18861187,2	MCF-7	breast:
36	chr4:18738288..18740085-chr4:18768296..18770418,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184260	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000142541	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000184270	chromatin interactions

Extended variants
information (count: 5881 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:5881 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538163333	chr4:18675001-18675002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183576823	chr4:18675057-18675058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139218515	chr4:18675189-18675190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573996286	chr4:18675246-18675247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556934765	chr4:18675248-18675249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200687765	chr4:18675258-18675259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559289356	chr4:18675288-18675289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143709594	chr4:18675292-18675293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189432060	chr4:18675353-18675354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548814445	chr4:18676400-18676401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114975211	chr4:18676403-18676404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79952759	chr4:18676418-18676419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577903739	chr4:18676574-18676575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191198693	chr4:18676587-18676588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12509650	chr4:18676605-18676606	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs147379999	chr4:18676610-18676611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148421263	chr4:18676629-18676630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561092255	chr4:18676727-18676728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs114792063	chr4:18676765-18676766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540654515	chr4:18676770-18676771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142517755	chr4:18676777-18676778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114834888	chr4:18676791-18676792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150926503	chr4:18676857-18676858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569485841	chr4:18676890-18676891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530360435	chr4:18676912-18676913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs72619143	chr4:18676914-18676915	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs567399864	chr4:18676998-18676999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140628830	chr4:18677009-18677010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183248552	chr4:18677069-18677070	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs534054816	chr4:18677145-18677146	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs186774633	chr4:18677180-18677181	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs144503250	chr4:18677257-18677258	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs191725875	chr4:18677303-18677304	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs183062673	chr4:18677315-18677316	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs542440810	chr4:18677382-18677383	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs554625685	chr4:18677389-18677390	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs188396501	chr4:18677415-18677416	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs555432028	chr4:18677449-18677450	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs116619614	chr4:18677456-18677457	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs79104395	chr4:18677494-18677495	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs573547293	chr4:18677504-18677505	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs192638390	chr4:18677518-18677519	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs568764402	chr4:18677536-18677537	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs113583637	chr4:18677559-18677560	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs536701531	chr4:18677567-18677568	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs182352905	chr4:18677571-18677572	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs146618672	chr4:18677648-18677649	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs556427787	chr4:18677676-18677677	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs567336724	chr4:18677711-18677712	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs74976332	chr4:18677738-18677739	Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Intracranial tumor	22048656	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18675000-18675400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:18676400-18678200	Enhancers	Brain Substantia Nigra	brain
3	chr4:18676600-18678000	Enhancers	Brain Hippocampus Middle	brain
4	chr4:18677200-18678400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:18677400-18678000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:18677400-18678600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:18678200-18678600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:18685600-18687800	Weak transcription	Fetal Intestine Large	intestine
9	chr4:18685800-18687600	Weak transcription	Fetal Intestine Small	intestine
10	chr4:18686400-18686600	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr4:18686400-18688000	Enhancers	HUVEC	blood vessel
12	chr4:18686600-18687200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:18686800-18687200	Enhancers	NH-A	brain
14	chr4:18687200-18687600	Weak transcription	NH-A	brain
15	chr4:18687200-18688000	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr4:18687400-18688000	Enhancers	Gastric	stomach
17	chr4:18687400-18688000	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:18687600-18688000	Enhancers	Aorta	Aorta
19	chr4:18687600-18688400	Enhancers	NH-A	brain
20	chr4:18687600-18689000	Enhancers	Fetal Intestine Small	intestine
21	chr4:18687800-18688200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:18687800-18688200	Enhancers	Rectal Smooth Muscle	rectum
23	chr4:18687800-18688200	Enhancers	Stomach Mucosa	stomach
24	chr4:18687800-18688400	Enhancers	Fetal Heart	heart
25	chr4:18687800-18689200	Enhancers	Fetal Intestine Large	intestine
26	chr4:18688000-18688200	Enhancers	Fetal Lung	lung
27	chr4:18688000-18688400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:18688000-18688400	Enhancers	Stomach Smooth Muscle	stomach
29	chr4:18688000-18697600	Weak transcription	Gastric	stomach
30	chr4:18688200-18691200	Weak transcription	Fetal Lung	lung
31	chr4:18688200-18691400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr4:18688400-18688600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:18688400-18691200	Weak transcription	Fetal Heart	heart
34	chr4:18688600-18689000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr4:18689000-18689200	Enhancers	Fetal Kidney	kidney
36	chr4:18689000-18691400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:18689200-18690800	Weak transcription	Fetal Kidney	kidney
38	chr4:18689200-18691200	Weak transcription	Fetal Intestine Large	intestine
39	chr4:18690800-18693600	Enhancers	Fetal Kidney	kidney
40	chr4:18691200-18691400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:18691200-18691400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr4:18691200-18691400	Enhancers	Brain Hippocampus Middle	brain
43	chr4:18691200-18691400	Enhancers	Fetal Brain Male	brain
44	chr4:18691200-18691400	Enhancers	Fetal Intestine Large	intestine
45	chr4:18691200-18691400	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:18691200-18691600	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:18691200-18691800	Enhancers	Fetal Heart	heart
48	chr4:18691200-18692000	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:18691200-18692000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr4:18691200-18692200	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links