Variant report

Variant	nsv946098
Chromosome Location	chr1:101403971-101415950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:101415209-101415304	HepG2	liver:	n/a	n/a
2	ATF1	chr1:101415158-101415325	K562	blood:	n/a	n/a
3	ATF2	chr1:101406670-101407177	GM12878	blood:	n/a	n/a
4	BATF	chr1:101406732-101407195	GM12878	blood:	n/a	n/a
5	BATF	chr1:101406731-101407195	GM12878	blood:	n/a	n/a
6	BCL11A	chr1:101406763-101407043	GM12878	blood:	n/a	n/a
7	BCL11A	chr1:101406681-101407163	GM12878	blood:	n/a	n/a
8	BHLHE40	chr1:101406937-101407066	GM12878	blood:	n/a	n/a
9	CEBPB	chr1:101409148-101409423	IMR90	lung:	n/a	chr1:101409281-101409292 chr1:101409342-101409354
10	CEBPB	chr1:101407776-101407975	HepG2	liver:	n/a	chr1:101407807-101407818 chr1:101407849-101407860
11	CEBPB	chr1:101409287-101409343	K562	blood:	n/a	n/a
12	CEBPB	chr1:101407736-101407851	A549	lung:	n/a	chr1:101407807-101407818
13	CEBPB	chr1:101409142-101409407	A549	lung:	n/a	chr1:101409281-101409292 chr1:101409342-101409354
14	CEBPB	chr1:101409107-101409444	Hela-S3	cervix:	n/a	chr1:101409281-101409292 chr1:101409342-101409354
15	CEBPB	chr1:101409140-101409435	HepG2	liver:	n/a	chr1:101409281-101409292 chr1:101409342-101409354
16	CHD2	chr1:101415271-101415624	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr1:101415217-101415382	HepG2	liver:	n/a	n/a
18	CTCF	chr1:101415238-101415281	Lung_OC	lung:	n/a	n/a
19	CTCF	chr1:101414820-101414970	HEK293	kidney:	n/a	n/a
20	CTCF	chr1:101409827-101409889	Kidney_OC	kidney:	n/a	n/a
21	ELF1	chr1:101415101-101415692	GM12878	blood:	n/a	n/a
22	ELF1	chr1:101415097-101415353	HepG2	liver:	n/a	n/a
23	ELF1	chr1:101415044-101415421	K562	blood:	n/a	n/a
24	EP300	chr1:101406861-101407086	GM12878	blood:	n/a	n/a
25	EP300	chr1:101415208-101415375	HepG2	liver:	n/a	n/a
26	EP300	chr1:101405865-101406042	K562	blood:	n/a	n/a
27	FOXA1	chr1:101415026-101415504	HepG2	liver:	n/a	n/a
28	FOXA1	chr1:101415104-101415394	HepG2	liver:	n/a	n/a
29	FOXA1	chr1:101415064-101415417	HepG2	liver:	n/a	n/a
30	FOXA1	chr1:101415090-101415488	HepG2	liver:	n/a	n/a
31	FOXA2	chr1:101415099-101415608	A549	lung:	n/a	n/a
32	FOXA2	chr1:101415071-101415405	HepG2	liver:	n/a	n/a
33	FOXM1	chr1:101406652-101407213	GM12878	blood:	n/a	n/a
34	FOXM1	chr1:101406626-101407198	GM12878	blood:	n/a	n/a
35	FOXP2	chr1:101415109-101415330	PFSK-1	brain:	n/a	n/a
36	FOXP2	chr1:101415162-101415359	PFSK-1	brain:	n/a	n/a
37	GATA2	chr1:101409018-101409282	HUVEC	blood vessel:	n/a	n/a
38	GATA3	chr1:101408858-101409506	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr1:101408864-101409477	SK-N-SH	brain:	n/a	n/a
40	HEY1	chr1:101415215-101415391	HepG2	liver:	n/a	n/a
41	IRF4	chr1:101406675-101407151	GM12878	blood:	n/a	n/a
42	IRF4	chr1:101406685-101407211	GM12878	blood:	n/a	n/a
43	JUN	chr1:101409271-101409337	HepG2	liver:	n/a	chr1:101409282-101409295
44	JUND	chr1:101415168-101415359	K562	blood:	n/a	n/a
45	JUND	chr1:101409179-101409355	HepG2	liver:	n/a	n/a
46	JUND	chr1:101415145-101415384	HepG2	liver:	n/a	n/a
47	KAP1	chr1:101415120-101415307	U2OS	brain:	n/a	n/a
48	MAFF	chr1:101415213-101415376	HepG2	liver:	n/a	chr1:101415260-101415278
49	MAFF	chr1:101405019-101405122	HepG2	liver:	n/a	n/a
50	MAFK	chr1:101404927-101405238	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:101415806..101417354-chr1:101418867..101421681,2	K562	blood:
2	chr1:101415307..101417388-chr1:101418178..101421634,3	K562	blood:
3	chr1:101405925..101408495-chr1:101415629..101417929,2	MCF-7	breast:
4	chr1:101415193..101416702-chr1:101418246..101419934,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VCAM1-3	chr1:101404601-101405132	l_101_chr1:101388696-101405028_adipose

Variant related genes	Relation type
HNRNPA1P68	TF binding region
ENSG00000230946	chromatin interactions

Extended variants
information (count: 423 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535141359	chr1:101403984-101403985	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34177642	chr1:101404026-101404027	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192406106	chr1:101404154-101404155	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568468208	chr1:101404268-101404269	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537437807	chr1:101404286-101404287	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557332824	chr1:101404314-101404315	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548542365	chr1:101404344-101404345	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139521559	chr1:101404403-101404404	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565092533	chr1:101404458-101404459	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539695130	chr1:101404473-101404474	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553153267	chr1:101404476-101404477	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs572918884	chr1:101404496-101404497	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541945524	chr1:101404525-101404526	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561608586	chr1:101404538-101404539	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145548603	chr1:101404557-101404558	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147729454	chr1:101404616-101404617	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142620381	chr1:101404641-101404642	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs532671725	chr1:101404642-101404643	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs552568243	chr1:101404643-101404644	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs544536393	chr1:101404680-101404681	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs149305348	chr1:101404725-101404726	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs112915424	chr1:101404726-101404727	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs559928936	chr1:101404817-101404818	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs533943452	chr1:101404910-101404911	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs200253209	chr1:101404920-101404921	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs528655457	chr1:101404960-101404961	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs116721487	chr1:101404978-101404979	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs568558318	chr1:101405031-101405032	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs530983143	chr1:101405037-101405038	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs550994950	chr1:101405056-101405057	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs570828939	chr1:101405064-101405065	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs539758032	chr1:101405128-101405129	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs144952946	chr1:101405156-101405157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566688471	chr1:101405174-101405175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147962364	chr1:101405180-101405181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555482811	chr1:101405193-101405194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181981797	chr1:101405254-101405255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185135014	chr1:101405271-101405272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs557354642	chr1:101405276-101405277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577185573	chr1:101405331-101405332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546502404	chr1:101405337-101405338	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113050177	chr1:101405374-101405375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573295797	chr1:101405403-101405404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368780747	chr1:101405404-101405405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148920000	chr1:101405425-101405426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528723971	chr1:101405458-101405459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143660615	chr1:101405481-101405482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538407058	chr1:101405542-101405543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs377382922	chr1:101405559-101405560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61780316	chr1:101405631-101405632	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:101362400-101406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:101362400-101414800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:101362600-101404000	Weak transcription	Pancreas	Pancrea
4	chr1:101362600-101406800	Weak transcription	Gastric	stomach
5	chr1:101362600-101414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:101362600-101414800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:101363000-101404000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:101363000-101489600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:101363200-101406600	Weak transcription	Right Ventricle	heart
10	chr1:101363200-101406800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:101363200-101416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:101372200-101404000	Weak transcription	Lung	lung
13	chr1:101372200-101414800	Weak transcription	Esophagus	oesophagus
14	chr1:101372600-101406800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:101373800-101406600	Weak transcription	Aorta	Aorta
16	chr1:101373800-101407600	Weak transcription	Small Intestine	intestine
17	chr1:101378200-101414600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:101378400-101404000	Weak transcription	Left Ventricle	heart
19	chr1:101378400-101404200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr1:101378400-101407200	Weak transcription	Ovary	ovary
21	chr1:101378800-101406800	Weak transcription	Fetal Stomach	stomach
22	chr1:101379400-101416400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:101379800-101414600	Weak transcription	Colonic Mucosa	Colon
24	chr1:101380000-101404200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:101381600-101428800	Weak transcription	Fetal Brain Female	brain
26	chr1:101381600-101431200	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:101382400-101407400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:101382400-101431600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:101383000-101434200	Weak transcription	Fetal Brain Male	brain
30	chr1:101383200-101414800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:101383400-101407000	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:101385000-101414200	Weak transcription	Stomach Mucosa	stomach
33	chr1:101387400-101409000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr1:101387800-101405800	Weak transcription	A549	lung
35	chr1:101389400-101406400	Weak transcription	Fetal Intestine Small	intestine
36	chr1:101389600-101418000	Weak transcription	HMEC	breast
37	chr1:101390200-101407200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:101392000-101414600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr1:101392000-101416400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:101392200-101404000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:101392200-101404000	Weak transcription	Placenta	Placenta
42	chr1:101392200-101404200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:101392200-101406800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:101392200-101431200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:101392400-101406400	Weak transcription	Brain Germinal Matrix	brain
46	chr1:101392600-101406600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:101392600-101414600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:101392600-101463800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:101393000-101404000	Weak transcription	Adipose Nuclei	Adipose
50	chr1:101393200-101406400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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