Variant report

Variant	nsv1008247
Chromosome Location	chr1:185321360-185345771
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:16)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:185336579..185338652-chr1:185344761..185346664,3	K562	blood:
2	chr1:185319451..185321457-chr1:185323668..185326543,2	K562	blood:
3	chr1:185273553..185276208-chr1:185318687..185321590,2	K562	blood:
4	chr1:185336356..185337918-chr1:185339608..185342446,2	K562	blood:
5	chr1:185323027..185325964-chr1:185336251..185338084,2	K562	blood:
6	chr1:185284808..185287790-chr1:185326640..185329248,2	MCF-7	breast:
7	chr1:185284186..185287473-chr1:185329755..185332041,3	K562	blood:
8	chr1:185336579..185338652-chr1:185344761..185346664,3	K562	blood:
9	chr1:185285756..185288147-chr1:185320973..185323025,2	MCF-7	breast:
10	chr1:185319451..185321457-chr1:185323668..185326543,2	K562	blood:
11	chr1:185334258..185337021-chr1:185337463..185339197,2	K562	blood:
12	chr1:185336356..185337918-chr1:185339608..185342446,2	K562	blood:
13	chr1:185339789..185341634-chr1:185357350..185360310,2	K562	blood:
14	chr1:185336756..185338388-chr1:185373495..185375950,2	MCF-7	breast:
15	chr1:185334258..185337021-chr1:185337463..185339197,2	K562	blood:
16	chr1:185323027..185325964-chr1:185336251..185338084,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SWT1-1	chr1:185343529-185344123	XLOC_000494
2	lnc-SWT1-1	chr1:185339834-185339921	XLOC_000494
3	lnc-SWT1-5	chr1:185328597-185328701	NONHSAT008420
4	lnc-SWT1-1	chr1:185342750-185342860	XLOC_000494

No data

Variant related genes	Relation type
ENSG00000116679	chromatin interactions
ENSG00000273004	chromatin interactions
CYB5R4	miRNA target sites
ROCK1	miRNA target sites
EIF2C1	miRNA target sites

Extended variants
information (count: 827 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551748713	chr1:185321423-185321424	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537239580	chr1:185321474-185321475	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs570346684	chr1:185321487-185321488	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537225251	chr1:185321521-185321522	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs78153565	chr1:185321534-185321535	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs559151012	chr1:185321559-185321560	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs553583289	chr1:185321687-185321688	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs185518419	chr1:185321709-185321710	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs537474972	chr1:185321773-185321774	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534755530	chr1:185321788-185321789	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190834598	chr1:185321811-185321812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs141438571	chr1:185321856-185321857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540863428	chr1:185321859-185321860	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562159447	chr1:185321919-185321920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs11805793	chr1:185321936-185321937	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542397904	chr1:185321970-185321971	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs148356618	chr1:185321996-185321997	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs61825504	chr1:185322038-185322039	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs141510071	chr1:185322085-185322086	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373325498	chr1:185322103-185322104	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs547442263	chr1:185322130-185322131	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563155602	chr1:185322184-185322185	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191540878	chr1:185322321-185322322	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181940011	chr1:185322388-185322389	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs150123883	chr1:185322405-185322406	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551778855	chr1:185322457-185322458	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs115514445	chr1:185322463-185322464	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs10752948	chr1:185322489-185322490	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs185943699	chr1:185322506-185322507	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs567813018	chr1:185322520-185322521	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535240527	chr1:185322552-185322553	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs547984295	chr1:185322560-185322561	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376860388	chr1:185322576-185322577	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371277361	chr1:185322590-185322591	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs189140166	chr1:185322636-185322637	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577690699	chr1:185322652-185322653	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563357522	chr1:185322673-185322674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs181157340	chr1:185322688-185322689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551755627	chr1:185322698-185322699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74633584	chr1:185322709-185322710	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113756958	chr1:185322738-185322739	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112929816	chr1:185322743-185322744	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575440221	chr1:185322778-185322779	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138718734	chr1:185322780-185322781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs546451840	chr1:185322905-185322906	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs574254657	chr1:185322966-185322967	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs572662788	chr1:185323031-185323032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540055557	chr1:185323048-185323049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568181508	chr1:185323086-185323087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533500674	chr1:185323087-185323088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Barrett''s syndrome	19417022	CNVD
Schizophrenia	19197363	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185313800-185327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:185317600-185329400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:185318400-185322000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:185318600-185321400	Enhancers	NHEK	skin
5	chr1:185318600-185321800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:185319600-185321400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:185319600-185323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:185319600-185324400	Weak transcription	Fetal Kidney	kidney
9	chr1:185319600-185330200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:185319600-185335600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:185320400-185322000	Enhancers	Fetal Heart	heart
12	chr1:185320800-185321800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:185321000-185321800	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:185321200-185325200	Weak transcription	HepG2	liver
15	chr1:185321800-185322200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:185321800-185322400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:185321800-185322800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:185321800-185323400	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:185322000-185327000	Weak transcription	Fetal Heart	heart
20	chr1:185322200-185322600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:185322200-185322600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:185322200-185322800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:185322400-185322600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:185322400-185322600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:185322600-185325200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:185324400-185324600	Enhancers	Fetal Kidney	kidney
27	chr1:185325200-185325400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:185325200-185326200	Enhancers	HepG2	liver
29	chr1:185325400-185328000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:185325400-185336400	Weak transcription	Right Atrium	heart
31	chr1:185325800-185326400	Enhancers	HUVEC	blood vessel
32	chr1:185326400-185329800	Weak transcription	HUVEC	blood vessel
33	chr1:185327400-185328200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr1:185327600-185328600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr1:185327800-185328200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:185327800-185328200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:185327800-185328400	Enhancers	Left Ventricle	heart
38	chr1:185327800-185328400	Enhancers	Right Ventricle	heart
39	chr1:185328000-185328200	ZNF genes & repeats	Esophagus	oesophagus
40	chr1:185328000-185328400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:185328000-185328400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:185328000-185328400	Enhancers	Spleen	Spleen
43	chr1:185328000-185328600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:185328200-185329200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:185328200-185334800	Weak transcription	Esophagus	oesophagus
46	chr1:185328200-185335200	Weak transcription	Fetal Intestine Small	intestine
47	chr1:185329200-185329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:185329400-185330600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:185329600-185330200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:185329800-185330600	Enhancers	HUVEC	blood vessel

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