Variant report

Variant	nsv546822
Chromosome Location	chr1:94246577-94289863
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:45)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94269224..94270816-chr1:94271541..94273859,2	MCF-7	breast:
2	chr1:94244543..94247746-chr1:94248419..94251309,3	MCF-7	breast:
3	chr1:94093897..94096295-chr1:94277751..94279857,3	MCF-7	breast:
4	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
5	chr1:94094533..94095758-chr1:94278266..94279023,3	MCF-7	breast:
6	chr1:94243077..94247180-chr1:94249014..94254909,5	MCF-7	breast:
7	chr1:94239484..94242137-chr1:94244474..94246678,2	MCF-7	breast:
8	chr1:94145860..94148014-chr1:94253915..94255872,2	MCF-7	breast:
9	chr1:94269224..94270816-chr1:94271541..94273859,2	MCF-7	breast:
10	chr1:94089082..94091665-chr1:94278876..94280669,2	MCF-7	breast:
11	chr1:94243077..94247180-chr1:94249014..94254909,5	MCF-7	breast:
12	chr1:94146952..94147507-chr1:94279666..94280655,2	MCF-7	breast:
13	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
14	chr1:94145260..94147356-chr1:94280674..94282798,2	MCF-7	breast:
15	chr1:94137739..94141828-chr1:94278104..94280351,3	MCF-7	breast:
16	chr1:94262988..94265962-chr1:94267220..94268908,3	K562	blood:
17	chr1:94285157..94287017-chr1:94328663..94330459,2	K562	blood:
18	chr1:94094709..94095433-chr1:94279409..94280490,4	MCF-7	breast:
19	chr1:94079232..94081582-chr1:94245503..94247138,2	MCF-7	breast:
20	chr1:94264120..94265962-chr1:94267264..94268908,2	K562	blood:
21	chr1:94145818..94148762-chr1:94243125..94247422,9	MCF-7	breast:
22	chr1:94242236..94243753-chr1:94263548..94266420,2	K562	blood:
23	chr1:94146662..94149106-chr1:94275928..94279554,4	MCF-7	breast:
24	chr1:94244543..94247746-chr1:94248419..94251309,3	MCF-7	breast:
25	chr1:94279712..94280219-chr1:94309586..94310428,2	MCF-7	breast:
26	chr1:94145037..94147485-chr1:94269296..94271164,2	MCF-7	breast:
27	chr1:94264120..94265962-chr1:94267264..94268908,2	K562	blood:
28	chr1:94262988..94265962-chr1:94267220..94268908,3	K562	blood:
29	chr1:94273349..94275410-chr1:94286366..94287981,2	K562	blood:
30	chr1:94146007..94146592-chr1:94279239..94279807,2	MCF-7	breast:
31	chr1:94167331..94169898-chr1:94245567..94247207,2	MCF-7	breast:
32	chr1:94095273..94097251-chr1:94284521..94286111,2	MCF-7	breast:
33	chr1:94278734..94280540-chr1:94311900..94313768,2	MCF-7	breast:
34	chr1:94279220..94281682-chr1:94312143..94314528,3	K562	blood:
35	chr1:93903297..93904174-chr1:94279235..94280195,4	K562	blood:
36	chr1:94096882..94097807-chr1:94279318..94280136,2	MCF-7	breast:
37	chr1:94279426..94281422-chr1:94311178..94313738,2	K562	blood:
38	chr1:94096488..94097857-chr1:94279258..94281095,8	MCF-7	breast:
39	chr1:94279623..94281366-chr1:94292858..94294814,2	MCF-7	breast:
40	chr1:94146643..94149409-chr1:94276998..94280390,3	MCF-7	breast:
41	chr1:94094703..94095710-chr1:94279237..94280002,9	K562	blood:
42	chr1:94262184..94264332-chr1:94311696..94313521,2	MCF-7	breast:
43	chr1:94144057..94145779-chr1:94248276..94250038,2	MCF-7	breast:
44	chr1:94280000..94282465-chr1:94282888..94285001,2	K562	blood:
45	chr1:94094814..94095807-chr1:94279301..94280178,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-1	chr1:94247113-94249747	NONHSAT004544
2	lnc-DNTTIP2-1	chr1:94254825-94255539	NONHSAT004544

No data

Variant related genes	Relation type
ENSG00000230439	chromatin interactions
ENSG00000260464	chromatin interactions
ENSG00000137936	chromatin interactions
ENSG00000211575	chromatin interactions

Extended variants
information (count: 1382 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1848	chr1:94246577-94246578	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181508232	chr1:94246590-94246591	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs1851	chr1:94246599-94246600	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs1852	chr1:94246611-94246612	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs568835796	chr1:94246682-94246683	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572638558	chr1:94246732-94246733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368727439	chr1:94246750-94246751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537410310	chr1:94246756-94246757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs6684128	chr1:94246778-94246779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs370917645	chr1:94246792-94246793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs137995749	chr1:94246800-94246801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571208809	chr1:94246807-94246808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114018909	chr1:94246870-94246871	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143388556	chr1:94246876-94246877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs563856734	chr1:94246888-94246889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs147144178	chr1:94246916-94246917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553948701	chr1:94246917-94246918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs368418459	chr1:94246942-94246943	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139077649	chr1:94246947-94246948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186992375	chr1:94246954-94246955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546752905	chr1:94246963-94246964	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140568039	chr1:94246970-94246971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529303032	chr1:94247010-94247011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6684389	chr1:94247031-94247032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs542468787	chr1:94247071-94247072	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142895235	chr1:94247089-94247090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191077032	chr1:94247151-94247152	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs144649772	chr1:94247174-94247175	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs557539310	chr1:94247213-94247214	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs566282653	chr1:94247261-94247262	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs533662698	chr1:94247274-94247275	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs148451606	chr1:94247275-94247276	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs182573423	chr1:94247303-94247304	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs537949759	chr1:94247320-94247321	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs576021433	chr1:94247343-94247344	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs6541395	chr1:94247354-94247355	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs142631802	chr1:94247400-94247401	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs564506098	chr1:94247401-94247402	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
39	rs533214984	chr1:94247424-94247425	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs540709276	chr1:94247476-94247477	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs576018000	chr1:94247492-94247493	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs546476422	chr1:94247518-94247519	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs564693436	chr1:94247535-94247536	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs151267121	chr1:94247544-94247545	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs576478389	chr1:94247564-94247565	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs560242911	chr1:94247590-94247591	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs60383814	chr1:94247630-94247631	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529028356	chr1:94247680-94247681	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs7540800	chr1:94247689-94247690	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17110458	chr1:94247752-94247753	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94220000-94254200	Weak transcription	Aorta	Aorta
2	chr1:94236200-94247400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:94241000-94247400	Enhancers	HMEC	breast
4	chr1:94241000-94249000	Enhancers	Hela-S3	cervix
5	chr1:94241200-94248400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:94243000-94247800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:94243600-94248400	Enhancers	Placenta	Placenta
8	chr1:94244000-94248000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:94244200-94246600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:94244400-94246600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:94245600-94253000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:94245800-94247800	Weak transcription	HepG2	liver
13	chr1:94245800-94248400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:94245800-94249000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:94246000-94246600	Weak transcription	Left Ventricle	heart
16	chr1:94246200-94246800	Enhancers	A549	lung
17	chr1:94246200-94247400	Enhancers	NHEK	skin
18	chr1:94246400-94246600	Enhancers	Adipose Nuclei	Adipose
19	chr1:94246600-94246800	Enhancers	Left Ventricle	heart
20	chr1:94246600-94255400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:94246800-94266600	Weak transcription	A549	lung
22	chr1:94247400-94249200	Weak transcription	HMEC	breast
23	chr1:94247400-94249200	Weak transcription	NHEK	skin
24	chr1:94247600-94251000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:94247800-94248400	Enhancers	HepG2	liver
26	chr1:94247800-94251400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:94248200-94248400	Enhancers	HUVEC	blood vessel
28	chr1:94248400-94249200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:94248400-94249400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:94248400-94249400	Weak transcription	HepG2	liver
31	chr1:94249000-94252000	Weak transcription	Hela-S3	cervix
32	chr1:94249000-94263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94249200-94250000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:94249200-94250000	Enhancers	HMEC	breast
35	chr1:94249200-94250200	Enhancers	NHEK	skin
36	chr1:94249400-94249800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:94249400-94251200	Enhancers	HepG2	liver
38	chr1:94250400-94250600	Enhancers	Placenta	Placenta
39	chr1:94251000-94252200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:94251200-94252200	Weak transcription	HepG2	liver
41	chr1:94251400-94251800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:94251800-94252000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:94251800-94252000	Enhancers	Left Ventricle	heart
44	chr1:94252000-94252800	Enhancers	Hela-S3	cervix
45	chr1:94252000-94263600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:94252200-94252400	Enhancers	HepG2	liver
47	chr1:94252200-94252600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:94254200-94254400	ZNF genes & repeats	Aorta	Aorta
49	chr1:94255200-94255600	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:94255200-94255600	Enhancers	iPS-18 Cell Line	embryonic stem cell

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