Variant report

Variant	nsv532708
Chromosome Location	chr4:18596861-19176896
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:44)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13757227..13757777-chr4:18756763..18757484,2	MCF-7	breast:
2	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
3	chr4:18736521..18738604-chr4:18741262..18743642,2	K562	blood:
4	chr4:18687781..18689370-chr4:18694986..18697418,2	MCF-7	breast:
5	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
6	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
7	chr4:18738288..18740085-chr4:18768296..18770418,2	K562	blood:
8	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
9	chr4:18023031..18024982-chr4:18595679..18597330,2	K562	blood:
10	chr1:149857381..149859759-chr4:18677015..18679993,2	MCF-7	breast:
11	chr4:18853564..18855198-chr4:18858521..18861187,2	MCF-7	breast:
12	chr4:18738288..18740085-chr4:18768296..18770418,2	K562	blood:
13	chr4:18683202..18686067-chr4:18714292..18716968,2	K562	blood:
14	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
15	chr4:18623244..18625246-chr4:18636113..18638768,2	MCF-7	breast:
16	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
17	chr4:18736521..18738604-chr4:18741262..18743642,2	K562	blood:
18	chr4:18623244..18625246-chr4:18636113..18638768,2	MCF-7	breast:
19	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
20	chr4:18814463..18816905-chr4:18817927..18821007,3	K562	blood:
21	chr19:49990781..49991366-chr4:19000460..19000979,2	HCT-116	colon:
22	chr4:18814463..18816905-chr4:18817927..18821007,3	K562	blood:
23	chr10:27529118..27531898-chr4:18603633..18606558,2	MCF-7	breast:
24	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:
25	chr4:18940784..18943310-chr4:18944237..18946606,2	MCF-7	breast:
26	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
27	chr4:18709915..18712591-chr4:18716266..18718533,2	K562	blood:
28	chr4:18891757..18894145-chr4:18896407..18898012,2	K562	blood:
29	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
30	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
31	chr4:18683202..18686067-chr4:18714292..18716968,2	K562	blood:
32	chr4:18694436..18696661-chr4:18715695..18717251,2	K562	blood:
33	chr4:18951785..18953802-chr4:18956530..18958519,2	K562	blood:
34	chr4:18687781..18689370-chr4:18694986..18697418,2	MCF-7	breast:
35	chr4:18950635..18953353-chr4:18955164..18956778,2	MCF-7	breast:
36	chr4:18694436..18696661-chr4:18715695..18717251,2	K562	blood:
37	chr4:18690893..18691553-chr4:18935532..18936461,3	MCF-7	breast:
38	chr4:18709915..18712591-chr4:18716266..18718533,2	K562	blood:
39	chr4:19118666..19120200-chr4:19121807..19124671,2	K562	blood:
40	chr4:18939805..18940633-chr4:18956077..18956886,2	MCF-7	breast:
41	chr4:18985201..18987077-chr4:18989003..18991039,2	K562	blood:
42	chr4:18853564..18855198-chr4:18858521..18861187,2	MCF-7	breast:
43	chr4:18692929..18693559-chr4:18935588..18936089,2	MCF-7	breast:
44	chr1:214613502..214615367-chr4:18740993..18743992,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCORL-2	chr4:19173958-19174149	ENSG00000248238

No data

Variant related genes	Relation type
ENSG00000178096	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000142541	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000178177	chromatin interactions
ENSG00000107897	chromatin interactions

Extended variants
information (count: 10035 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:10035 , 50 per page) page: 1 2 3 4 5 6 7 ... 201

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541229055	chr4:18596918-18596919	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2616474	chr4:18596935-18596936	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs140983016	chr4:18596944-18596945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192968341	chr4:18596945-18596946	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs370368558	chr4:18596954-18596955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528659789	chr4:18596990-18596991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537558396	chr4:18597016-18597017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571963480	chr4:18597020-18597021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12502238	chr4:18597045-18597046	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368940433	chr4:18597053-18597054	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs557795846	chr4:18597110-18597111	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35368970	chr4:18597118-18597119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62412669	chr4:18597119-18597120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs68033510	chr4:18597129-18597130	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59305591	chr4:18597131-18597132	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112349259	chr4:18597132-18597133	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375359647	chr4:18597133-18597134	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs35175389	chr4:18597134-18597135	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs58687577	chr4:18597168-18597169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs569636447	chr4:18597170-18597171	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537170743	chr4:18597308-18597309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs17482683	chr4:18597309-18597310	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs571419699	chr4:18603634-18603635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs532448304	chr4:18603644-18603645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113769220	chr4:18603675-18603676	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569031810	chr4:18603715-18603716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200901908	chr4:18603722-18603723	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142737320	chr4:18603725-18603726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs555085598	chr4:18603731-18603732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566999480	chr4:18603743-18603744	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs10024438	chr4:18603751-18603752	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs544461877	chr4:18603760-18603761	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577424462	chr4:18603766-18603767	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202054198	chr4:18603767-18603768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190353567	chr4:18603782-18603783	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200270441	chr4:18603822-18603823	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574966225	chr4:18603824-18603825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs137891775	chr4:18603837-18603838	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs143344438	chr4:18603864-18603865	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs147535123	chr4:18603868-18603869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539805061	chr4:18603883-18603884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564903126	chr4:18603891-18603892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs370950310	chr4:18603896-18603897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111488573	chr4:18603906-18603907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs550844258	chr4:18603932-18603933	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368799340	chr4:18603960-18603961	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs199937199	chr4:18603998-18603999	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs562676696	chr4:18604042-18604043	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs529894274	chr4:18604050-18604051	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs548427992	chr4:18604058-18604059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Intracranial tumor	22048656	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18604400-18605000	Active TSS	A549	lung
2	chr4:18608600-18609400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:18610400-18611000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:18611000-18619000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:18612600-18613200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr4:18612600-18613400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:18612800-18613200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:18613200-18614400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:18613200-18614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:18613400-18614800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:18614400-18615600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:18614800-18615000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:18614800-18616000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:18615000-18615400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:18615400-18616200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:18619000-18619400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:18620200-18620400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:18620400-18621400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:18621400-18621800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:18625200-18626000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:18625600-18626000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:18626600-18627600	Enhancers	Placenta	Placenta
23	chr4:18626800-18627200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:18627200-18628200	Enhancers	Fetal Brain Male	brain
25	chr4:18627600-18630800	Weak transcription	Placenta	Placenta
26	chr4:18628200-18629000	Weak transcription	Fetal Brain Male	brain
27	chr4:18628600-18628800	Enhancers	Fetal Brain Female	brain
28	chr4:18629000-18629800	Enhancers	Fetal Brain Male	brain
29	chr4:18629200-18629600	Enhancers	Fetal Lung	lung
30	chr4:18629400-18629600	Enhancers	Fetal Brain Female	brain
31	chr4:18629600-18632600	Weak transcription	Fetal Lung	lung
32	chr4:18630400-18631000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:18630800-18631400	Enhancers	Adipose Nuclei	Adipose
34	chr4:18630800-18631400	Enhancers	Placenta	Placenta
35	chr4:18631200-18631600	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr4:18632200-18632800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:18632200-18632800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:18632400-18632800	ZNF genes & repeats	Pancreas	Pancrea
39	chr4:18632600-18634600	Enhancers	Fetal Lung	lung
40	chr4:18632800-18634200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr4:18633400-18636200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:18633800-18634000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:18634000-18636800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:18634600-18636800	Weak transcription	Fetal Lung	lung
45	chr4:18636200-18636600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:18636600-18641200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:18636800-18637200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:18636800-18639200	Enhancers	Fetal Lung	lung
49	chr4:18637000-18637800	Enhancers	Brain Hippocampus Middle	brain
50	chr4:18637000-18638000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links