Variant report

Variant	nsv871260
Chromosome Location	chr1:78957859-78976570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:78953624..78955223-chr1:78965272..78967334,2	K562	blood:

Extended variants
information (count: 656 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3766353	chr1:78957859-78957860	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148927368	chr1:78957941-78957942	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143662556	chr1:78957978-78957979	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536889515	chr1:78957986-78957987	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548754814	chr1:78958036-78958037	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs151054987	chr1:78958107-78958108	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535581047	chr1:78958179-78958180	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554211004	chr1:78958273-78958274	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35978825	chr1:78958277-78958278	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140997273	chr1:78958296-78958297	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs368624131	chr1:78958308-78958309	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs576360098	chr1:78958324-78958325	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376005717	chr1:78958331-78958332	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs146621158	chr1:78958367-78958368	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs192820859	chr1:78958408-78958409	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs1123154	chr1:78958421-78958422	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113841118	chr1:78958438-78958439	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1123153	chr1:78958447-78958448	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs41292960	chr1:78958451-78958452	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115647706	chr1:78958457-78958458	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375187721	chr1:78958461-78958462	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140892141	chr1:78958469-78958470	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35227129	chr1:78958491-78958492	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs142203953	chr1:78958514-78958515	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35916252	chr1:78958548-78958549	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374752240	chr1:78958573-78958574	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs557932470	chr1:78958575-78958576	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367629061	chr1:78958597-78958598	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35065683	chr1:78958618-78958619	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571722411	chr1:78958628-78958629	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532815634	chr1:78958725-78958726	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371784163	chr1:78958734-78958735	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs200749896	chr1:78958753-78958754	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369124989	chr1:78958755-78958756	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76806235	chr1:78958770-78958771	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142013001	chr1:78958862-78958863	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12088246	chr1:78958863-78958864	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146358187	chr1:78958868-78958869	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372903767	chr1:78958870-78958871	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375003751	chr1:78958879-78958880	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs116802591	chr1:78958893-78958894	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144240090	chr1:78958939-78958940	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200068380	chr1:78958952-78958953	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144613797	chr1:78958963-78958964	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147607519	chr1:78959003-78959004	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547608444	chr1:78959023-78959024	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115994459	chr1:78959081-78959082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200228266	chr1:78959117-78959118	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145225940	chr1:78959130-78959131	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116532636	chr1:78959161-78959162	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78956200-78958000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:78956200-78958000	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr1:78956200-78958000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
4	chr1:78956200-78958000	Active TSS	NHLF	lung
5	chr1:78956200-78958400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:78956200-78958400	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr1:78956200-78958400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
8	chr1:78956200-78958800	Active TSS	Colon Smooth Muscle	Colon
9	chr1:78956200-78958800	Active TSS	Rectal Smooth Muscle	rectum
10	chr1:78956200-78961400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:78956400-78958000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:78956400-78958000	Active TSS	Colonic Mucosa	Colon
13	chr1:78956400-78958000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr1:78956400-78958200	Active TSS	NHDF-Ad	bronchial
15	chr1:78956600-78958200	Active TSS	Stomach Smooth Muscle	stomach
16	chr1:78957200-78958000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:78957400-78958200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:78957600-78958000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr1:78957600-78958000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr1:78957600-78958000	Bivalent Enhancer	Fetal Brain Male	brain
21	chr1:78957600-78958000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:78957600-78958600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:78957600-78958600	Enhancers	Placenta	Placenta
24	chr1:78957600-78959200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:78957800-78958000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr1:78957800-78958000	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr1:78957800-78958000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr1:78957800-78958000	Active TSS	Fetal Brain Female	brain
29	chr1:78957800-78958000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr1:78957800-78958000	Bivalent/Poised TSS	HUVEC	blood vessel
31	chr1:78957800-78958200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:78957800-78958200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
33	chr1:78957800-78958200	Enhancers	NH-A	brain
34	chr1:78957800-78958200	Flanking Active TSS	Osteobl	bone
35	chr1:78957800-78958400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:78957800-78958400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:78957800-78958400	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr1:78957800-78958600	Active TSS	Adipose Nuclei	Adipose
39	chr1:78957800-78961600	Weak transcription	HSMM	muscle
40	chr1:78957800-78961600	Weak transcription	HSMMtube	muscle
41	chr1:78957800-78966000	Weak transcription	Ovary	ovary
42	chr1:78957800-78966000	Weak transcription	Pancreas	Pancrea
43	chr1:78958000-78958200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:78958000-78958400	Active TSS	Muscle Satellite Cultured Cells	--
45	chr1:78958000-78958600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr1:78958000-78960400	Enhancers	Fetal Brain Male	brain
47	chr1:78958000-78962200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:78958000-78965600	Weak transcription	NHLF	lung
49	chr1:78958200-78958400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:78958200-78958400	Flanking Active TSS	NHDF-Ad	bronchial

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