Variant report

Variant	nsv1008634
Chromosome Location	chr1:61613785-61671468
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:81)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr1:61645105..61646724-chr1:61658259..61661230,2	K562	blood:
2	chr1:61620892..61622507-chr1:61624479..61626051,2	K562	blood:
3	chr1:61647828..61650855-chr1:61700131..61703599,3	K562	blood:
4	chr1:61605231..61608148-chr1:61617822..61620797,4	K562	blood:
5	chr1:61542290..61543859-chr1:61670044..61672792,2	K562	blood:
6	chr1:61622127..61626691-chr1:61627901..61630781,5	K562	blood:
7	chr1:61612662..61614711-chr1:61632085..61634875,2	K562	blood:
8	chr1:61635354..61638048-chr1:61638572..61641973,4	K562	blood:
9	chr1:61660663..61663375-chr1:61667664..61670072,2	K562	blood:
10	chr1:61620670..61621170-chr20:53297255..53298211,4	MCF-7	breast:
11	chr1:61635699..61637979-chr1:61638572..61641332,3	K562	blood:
12	chr1:61632968..61636153-chr1:61647736..61650624,5	K562	blood:
13	chr1:61546983..61549113-chr1:61649901..61651469,2	K562	blood:
14	chr1:61645105..61646724-chr1:61658259..61661230,2	K562	blood:
15	chr1:61623244..61625857-chr1:61628268..61629973,2	MCF-7	breast:
16	chr1:61629129..61632873-chr1:61634036..61638696,5	K562	blood:
17	chr1:61635026..61638117-chr1:61715287..61717376,3	K562	blood:
18	chr1:61637787..61640329-chr1:61641954..61643964,3	K562	blood:
19	chr1:61606636..61608407-chr1:61648572..61650162,2	K562	blood:
20	chr1:61517169..61519611-chr1:61636175..61638913,2	K562	blood:
21	chr1:61626663..61630629-chr1:61636712..61638696,3	K562	blood:
22	chr1:61612662..61614711-chr1:61632085..61634875,2	K562	blood:
23	chr1:61627635..61630028-chr1:61649668..61651681,2	K562	blood:
24	chr1:61650174..61654945-chr1:61655876..61661937,8	K562	blood:
25	chr1:61643406..61645016-chr1:61649264..61651910,2	K562	blood:
26	chr1:61522141..61524264-chr1:61659818..61661970,2	K562	blood:
27	chr1:61650174..61654945-chr1:61655876..61661937,8	K562	blood:
28	chr1:61649257..61651424-chr1:61700130..61703599,3	K562	blood:
29	chr1:61635699..61637979-chr1:61638572..61641332,3	K562	blood:
30	chr1:61609969..61611862-chr1:61612335..61615496,3	MCF-7	breast:
31	chr1:61660544..61663206-chr1:61665205..61667252,2	K562	blood:
32	chr1:61623244..61625857-chr1:61628268..61629973,2	MCF-7	breast:
33	chr1:61665981..61668417-chr1:61670915..61673753,3	K562	blood:
34	chr1:61627635..61630028-chr1:61649668..61651681,2	K562	blood:
35	chr1:61650344..61654950-chr1:61656587..61661937,8	K562	blood:
36	chr1:61653304..61654875-chr1:61673178..61675830,2	K562	blood:
37	chr1:61622127..61624762-chr1:61628255..61629757,2	K562	blood:
38	chr1:61648753..61651711-chr1:61715272..61717636,2	K562	blood:
39	chr1:61541384..61544260-chr1:61633284..61635303,2	MCF-7	breast:
40	chr1:61634697..61637798-chr1:61643095..61647112,4	K562	blood:
41	chr1:61599943..61601575-chr1:61648231..61650585,2	K562	blood:
42	chr1:61620892..61622507-chr1:61624479..61626051,2	K562	blood:
43	chr1:61620670..61621170-chr20:53297146..53297782,3	MCF-7	breast:
44	chr1:61519932..61522801-chr1:61616864..61618742,2	K562	blood:
45	chr1:61605390..61608358-chr1:61610014..61613874,4	K562	blood:
46	chr1:61670954..61672679-chr1:61702027..61704538,2	K562	blood:
47	chr1:61622127..61626691-chr1:61627901..61630781,5	K562	blood:
48	chr1:61518111..61520949-chr1:61637413..61640142,2	K562	blood:
49	chr1:61545964..61548652-chr1:61645959..61648475,2	MCF-7	breast:
50	chr1:61650344..61654950-chr1:61656587..61661937,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237853	chromatin interactions
ENSG00000162599	chromatin interactions

Extended variants
information (count: 2121 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:2121 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558459061	chr1:61613793-61613794	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576987412	chr1:61613796-61613797	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540879077	chr1:61613849-61613850	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559228742	chr1:61613852-61613853	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529975259	chr1:61613858-61613859	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190518011	chr1:61613929-61613930	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147172804	chr1:61613958-61613959	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs17121688	chr1:61613998-61613999	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548456340	chr1:61614007-61614008	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530505684	chr1:61614035-61614036	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552264228	chr1:61614091-61614092	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570929655	chr1:61614115-61614116	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563705044	chr1:61614126-61614127	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs139439408	chr1:61614193-61614194	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568762122	chr1:61614234-61614235	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529281404	chr1:61614238-61614239	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557373677	chr1:61614329-61614330	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569269926	chr1:61614357-61614358	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539517094	chr1:61614371-61614372	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17121694	chr1:61614409-61614410	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374036670	chr1:61614412-61614413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527287132	chr1:61614494-61614495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549006002	chr1:61614565-61614566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540815580	chr1:61614583-61614584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183498507	chr1:61614592-61614593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567356924	chr1:61614595-61614596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs870557	chr1:61614607-61614608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556367410	chr1:61614609-61614610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563102423	chr1:61614626-61614627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570103040	chr1:61614629-61614630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7518212	chr1:61614632-61614633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530548731	chr1:61614636-61614637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7541027	chr1:61614641-61614642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7541028	chr1:61614651-61614652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545534856	chr1:61614653-61614654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7541030	chr1:61614660-61614661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116654175	chr1:61614712-61614713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs3067418	chr1:61614730-61614731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569039494	chr1:61614731-61614732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs77144149	chr1:61614732-61614733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397815256	chr1:61614744-61614745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75021669	chr1:61614746-61614747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74931649	chr1:61614748-61614749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538886775	chr1:61614777-61614778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149669801	chr1:61614786-61614787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144463654	chr1:61614787-61614788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562300025	chr1:61614810-61614811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529597534	chr1:61614833-61614834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551274440	chr1:61614861-61614862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569107939	chr1:61614961-61614962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20531469	CNVD

Chromatin state (count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61600000-61617200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:61605400-61617200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:61606000-61649000	Weak transcription	Spleen	Spleen
4	chr1:61606400-61616600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:61607400-61615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:61607600-61617000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:61607600-61617800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:61607600-61622200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:61607800-61615600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:61607800-61616000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:61607800-61616400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:61607800-61616600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:61607800-61617200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:61607800-61617800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:61607800-61618000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:61607800-61622600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:61608400-61617000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:61608400-61617200	Weak transcription	Fetal Stomach	stomach
19	chr1:61608600-61613800	Weak transcription	Colonic Mucosa	Colon
20	chr1:61608600-61614400	Genic enhancers	HepG2	liver
21	chr1:61608600-61617800	Weak transcription	Adipose Nuclei	Adipose
22	chr1:61608800-61614600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr1:61609200-61613800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:61609200-61617200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:61609200-61617400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:61609600-61613800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr1:61609600-61615200	Weak transcription	HMEC	breast
28	chr1:61609600-61622800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:61610000-61613800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:61610000-61614000	Weak transcription	Stomach Mucosa	stomach
31	chr1:61610000-61615000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:61610000-61615800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr1:61610000-61621800	Weak transcription	Fetal Brain Male	brain
34	chr1:61610000-61623400	Weak transcription	Fetal Brain Female	brain
35	chr1:61610200-61614000	Weak transcription	Aorta	Aorta
36	chr1:61610200-61614000	Weak transcription	NHEK	skin
37	chr1:61610200-61614400	Weak transcription	Hela-S3	cervix
38	chr1:61610200-61617200	Weak transcription	Pancreas	Pancrea
39	chr1:61610200-61622200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:61610200-61623200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:61610400-61615800	Weak transcription	Esophagus	oesophagus
42	chr1:61610400-61616600	Weak transcription	Brain Germinal Matrix	brain
43	chr1:61611200-61615000	Enhancers	Psoas Muscle	Psoas
44	chr1:61612000-61613800	Weak transcription	K562	blood
45	chr1:61612000-61615200	Weak transcription	Small Intestine	intestine
46	chr1:61612000-61635800	Weak transcription	Lung	lung
47	chr1:61612200-61613800	Weak transcription	Brain Hippocampus Middle	brain
48	chr1:61612200-61614400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:61612200-61614600	Enhancers	Liver	Liver
50	chr1:61612200-61614600	Weak transcription	Left Ventricle	heart

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