Variant report

Variant	nsv979388
Chromosome Location	chr2:113696105-113705504
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:20)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113703112..113705679-chr2:113706135..113709109,2	MCF-7	breast:
2	chr2:113506923..113507895-chr2:113698818..113699884,5	MCF-7	breast:
3	chr2:113703635..113706262-chr2:113709716..113711603,3	K562	blood:
4	chr2:113705434..113708431-chr2:113713568..113715574,2	MCF-7	breast:
5	chr2:113642230..113643259-chr2:113698990..113700080,4	MCF-7	breast:
6	chr2:113695796..113697897-chr2:113704279..113705804,2	K562	blood:
7	chr2:113506982..113507851-chr2:113699030..113699972,2	K562	blood:
8	chr2:113507087..113507745-chr2:113699452..113699992,2	MCF-7	breast:
9	chr2:113695796..113697897-chr2:113704279..113705804,2	K562	blood:
10	chr2:113357284..113358273-chr2:113699007..113699673,4	K562	blood:
11	chr2:113649179..113649918-chr2:113699043..113699938,2	MCF-7	breast:
12	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
13	chr2:113699183..113701055-chr2:113704655..113706324,2	MCF-7	breast:
14	chr2:113695165..113698377-chr2:113699884..113701948,3	K562	blood:
15	chr2:113694655..113699559-chr2:113699730..113703257,4	MCF-7	breast:
16	chr2:113672670..113675294-chr2:113694473..113696663,3	K562	blood:
17	chr2:113031587..113033869-chr2:113697518..113699436,2	K562	blood:
18	chr2:113703635..113705801-chr2:113709955..113711603,2	K562	blood:
19	chr2:113699183..113701055-chr2:113704655..113706324,2	MCF-7	breast:
20	chr2:113695165..113698377-chr2:113699884..113701948,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IL37-1	chr2:113698358-113698598	XLOC_001630
2	lnc-IL37-1	chr2:113696552-113696600	XLOC_001630

No data

Variant related genes	Relation type
ENSG00000125571	chromatin interactions
ENSG00000188177	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2068777	chr2:113696126-113696127	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533484257	chr2:113696128-113696129	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532297704	chr2:113696133-113696134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs546751006	chr2:113696187-113696188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs566935176	chr2:113696269-113696270	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146650999	chr2:113696289-113696290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs4074747	chr2:113696346-113696347	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568365522	chr2:113696419-113696420	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs537300894	chr2:113696441-113696442	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370735656	chr2:113696488-113696489	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs529015570	chr2:113696489-113696490	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532388632	chr2:113696508-113696509	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs7591311	chr2:113696528-113696529	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs79034586	chr2:113696529-113696530	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs4077216	chr2:113696594-113696595	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs184345512	chr2:113696648-113696649	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34792540	chr2:113696669-113696670	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs189041671	chr2:113696680-113696681	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs7564181	chr2:113696686-113696687	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs11694258	chr2:113696695-113696696	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544469622	chr2:113696730-113696731	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs12104658	chr2:113696830-113696831	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs11676969	chr2:113696838-113696839	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs386649268	chr2:113696844-113696845	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs13389731	chr2:113696846-113696847	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13389817	chr2:113696896-113696897	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs549406302	chr2:113696925-113696926	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs551920875	chr2:113696930-113696931	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs181713864	chr2:113696936-113696937	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs184817500	chr2:113696942-113696943	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs72942424	chr2:113696961-113696962	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs56826756	chr2:113696988-113696989	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs57795454	chr2:113697033-113697034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145889708	chr2:113697043-113697044	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs541486031	chr2:113697044-113697045	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs138441782	chr2:113697046-113697047	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs149609127	chr2:113697131-113697132	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs12105482	chr2:113697235-113697236	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564661525	chr2:113697252-113697253	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs10221977	chr2:113697276-113697277	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540472135	chr2:113697288-113697289	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs72942425	chr2:113697295-113697296	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529420582	chr2:113697302-113697303	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs117242610	chr2:113697322-113697323	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs537591151	chr2:113697423-113697424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57318387	chr2:113697429-113697430	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs555121714	chr2:113697457-113697458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190515273	chr2:113697472-113697473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551739960	chr2:113697494-113697495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574725201	chr2:113697518-113697519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113694000-113699200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:113694200-113696600	Weak transcription	NH-A	brain
3	chr2:113695000-113696200	Weak transcription	K562	blood
4	chr2:113695800-113697600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:113696000-113696200	Enhancers	Liver	Liver
6	chr2:113696000-113696800	Enhancers	Gastric	stomach
7	chr2:113696000-113697400	Enhancers	HMEC	breast
8	chr2:113696200-113696800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:113696200-113697000	Flanking Active TSS	Liver	Liver
10	chr2:113696400-113696600	Enhancers	K562	blood
11	chr2:113696400-113697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:113696400-113697600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:113696600-113697000	Enhancers	NH-A	brain
14	chr2:113696600-113697000	Enhancers	NHEK	skin
15	chr2:113696600-113697000	Enhancers	Osteobl	bone
16	chr2:113696600-113697200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:113696600-113697400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:113696600-113697400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:113696800-113697200	Weak transcription	Gastric	stomach
20	chr2:113696800-113697400	Bivalent Enhancer	HepG2	liver
21	chr2:113697000-113697200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:113697000-113699000	Weak transcription	NHEK	skin
23	chr2:113697000-113699800	Enhancers	Liver	Liver
24	chr2:113697200-113697400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:113697200-113697400	Enhancers	Gastric	stomach
26	chr2:113697200-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:113697200-113699400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:113697400-113697600	Enhancers	Stomach Mucosa	stomach
29	chr2:113697400-113699000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:113697400-113699200	Weak transcription	HMEC	breast
31	chr2:113697400-113699400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:113697400-113699600	Weak transcription	Gastric	stomach
33	chr2:113697600-113698200	Weak transcription	Stomach Mucosa	stomach
34	chr2:113697600-113699000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:113697600-113699400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr2:113697600-113700400	Enhancers	Colon Smooth Muscle	Colon
37	chr2:113698200-113699800	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:113698200-113700000	Enhancers	Stomach Mucosa	stomach
39	chr2:113699000-113699600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:113699000-113699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:113699000-113700800	Enhancers	NHEK	skin
42	chr2:113699000-113701000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:113699200-113699600	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr2:113699200-113699600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:113699200-113700000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:113699200-113700600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:113699200-113700600	Enhancers	HMEC	breast
48	chr2:113699400-113699800	Enhancers	Primary T cells fromperipheralblood	blood
49	chr2:113699400-113700400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:113699400-113700400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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