Variant report

Variant	nsv588937
Chromosome Location	chr22:34144823-34156607
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:2)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34143232..34145432-chr22:34315745..34318657,2	MCF-7	breast:
2	chr22:34153944..34154522-chr22:34255921..34256610,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TIMP3-6	chr22:34146591-34146803	NONHSAT085012
2	lnc-TIMP3-6	chr22:34146591-34146803	NONHSAT085011
3	lnc-TIMP3-6	chr22:34146591-34146729	ENSG00000224973.1
4	lnc-TIMP3-6	chr22:34146591-34146715	NONHSAT085014
5	lnc-TIMP3-6	chr22:34146591-34146644	ENSG00000224973.1
6	lnc-TIMP3-6	chr22:34146591-34146715	NONHSAT085015
7	lnc-TIMP3-6	chr22:34146591-34146830	ENSG00000224973.1
8	lnc-TIMP3-6	chr22:34146591-34146670	ENSG00000224973.1
9	lnc-TIMP3-6	chr22:34146591-34146715	NONHSAT085018

No data

Variant related genes	Relation type
ENSG00000273082	chromatin interactions
ENSG00000133424	chromatin interactions

Extended variants
information (count: 498 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5999084	chr22:34144823-34144824	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543771464	chr22:34144842-34144843	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs9621765	chr22:34144863-34144864	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs558052220	chr22:34144878-34144879	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375391041	chr22:34144884-34144885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529391130	chr22:34144888-34144889	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs28760379	chr22:34144893-34144894	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556926278	chr22:34144913-34144914	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs75414301	chr22:34144959-34144960	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs114306299	chr22:34144960-34144961	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528299015	chr22:34144986-34144987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62225408	chr22:34144996-34144997	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562935056	chr22:34144998-34144999	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs9621766	chr22:34145009-34145010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs531757427	chr22:34145044-34145045	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs140954661	chr22:34145050-34145051	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs564405540	chr22:34145103-34145104	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533243918	chr22:34145131-34145132	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs546526398	chr22:34145179-34145180	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs571466782	chr22:34145185-34145186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs566664279	chr22:34145202-34145203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371015629	chr22:34145204-34145205	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191652479	chr22:34145205-34145206	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs548687579	chr22:34145242-34145243	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150187234	chr22:34145251-34145252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537476915	chr22:34145268-34145269	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557316222	chr22:34145278-34145279	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs577959814	chr22:34145286-34145287	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs147869087	chr22:34145302-34145303	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554128427	chr22:34145303-34145304	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574192321	chr22:34145320-34145321	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542824639	chr22:34145327-34145328	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375084294	chr22:34145336-34145337	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs5999085	chr22:34145378-34145379	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs386820851	chr22:34145391-34145392	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115487642	chr22:34145392-34145393	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141662767	chr22:34145395-34145396	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs566960310	chr22:34145515-34145516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546885436	chr22:34145522-34145523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs116318797	chr22:34145542-34145543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147051012	chr22:34145555-34145556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200958302	chr22:34145579-34145580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11912486	chr22:34145596-34145597	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568646976	chr22:34145619-34145620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553594074	chr22:34145627-34145628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182401359	chr22:34145630-34145631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138476095	chr22:34145645-34145646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571229952	chr22:34145651-34145652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs5754655	chr22:34145663-34145664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533519452	chr22:34145668-34145669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34111200-34146200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:34123200-34152000	Weak transcription	Aorta	Aorta
3	chr22:34124800-34171000	Weak transcription	Ovary	ovary
4	chr22:34126200-34176200	Weak transcription	Spleen	Spleen
5	chr22:34131000-34154200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr22:34133800-34147600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:34134400-34164800	Weak transcription	Brain Anterior Caudate	brain
8	chr22:34136200-34148600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:34136200-34152800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr22:34136200-34152800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:34136400-34152600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:34136800-34152600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:34137200-34151000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr22:34137400-34152600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr22:34137600-34151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:34137800-34152800	Weak transcription	Colon Smooth Muscle	Colon
17	chr22:34138000-34148600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:34138000-34152600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr22:34138000-34152800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:34138000-34160800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr22:34140800-34146000	Enhancers	Fetal Heart	heart
22	chr22:34140800-34149200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr22:34140800-34152600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:34141000-34145000	Enhancers	Stomach Mucosa	stomach
25	chr22:34141400-34145000	Enhancers	Fetal Intestine Large	intestine
26	chr22:34141400-34145000	Enhancers	Pancreas	Pancrea
27	chr22:34141600-34152600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr22:34141800-34149400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:34141800-34152400	Weak transcription	Fetal Stomach	stomach
30	chr22:34141800-34153200	Weak transcription	Psoas Muscle	Psoas
31	chr22:34142000-34145000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr22:34142800-34145000	Enhancers	Fetal Intestine Small	intestine
33	chr22:34142800-34152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr22:34143200-34145000	Enhancers	Gastric	stomach
35	chr22:34143400-34145000	Enhancers	Duodenum Mucosa	Duodenum
36	chr22:34143400-34160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:34143800-34149800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:34144400-34145000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:34144400-34145000	Enhancers	Primary B cells from peripheral blood	blood
40	chr22:34144400-34145000	Enhancers	Small Intestine	intestine
41	chr22:34144400-34145200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:34144400-34145200	Enhancers	GM12878-XiMat	blood
43	chr22:34144400-34149400	Weak transcription	Fetal Muscle Leg	muscle
44	chr22:34144600-34145800	Weak transcription	Left Ventricle	heart
45	chr22:34144800-34145000	Enhancers	Fetal Lung	lung
46	chr22:34144800-34145800	Weak transcription	Right Ventricle	heart
47	chr22:34145000-34146000	Weak transcription	Gastric	stomach
48	chr22:34145000-34148600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr22:34145000-34151000	Weak transcription	Fetal Intestine Large	intestine
50	chr22:34145000-34154000	Weak transcription	Primary B cells from peripheral blood	blood

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