Variant report

Variant	nsv9714
Chromosome Location	chr19:35884836-35887576
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	chr19:35886903-35887125	HepG2	liver:	n/a	n/a
2	CEBPB	chr19:35884986-35885081	K562	blood:	n/a	chr19:35885058-35885067 chr19:35885058-35885069
3	CEBPB	chr19:35887411-35887764	HepG2	liver:	n/a	chr19:35887578-35887589
4	CEBPB	chr19:35887433-35887690	K562	blood:	n/a	chr19:35887578-35887589
5	CEBPB	chr19:35887418-35887757	K562	blood:	n/a	chr19:35887578-35887589
6	CEBPB	chr19:35887427-35887761	Hela-S3	cervix:	n/a	chr19:35887578-35887589
7	CEBPB	chr19:35887411-35887755	A549	lung:	n/a	chr19:35887578-35887589
8	CEBPB	chr19:35887405-35887753	IMR90	lung:	n/a	chr19:35887578-35887589
9	CEBPB	chr19:35884957-35885393	HepG2	liver:	n/a	chr19:35885058-35885067 chr19:35885058-35885069
10	CEBPB	chr19:35887503-35887705	H1-hESC	embryonic stem cell:	n/a	chr19:35887578-35887589
11	CEBPB	chr19:35885130-35885427	A549	lung:	n/a	n/a
12	EBF1	chr19:35886454-35886605	GM12878	blood:	n/a	n/a
13	EP300	chr19:35886850-35887010	HepG2	liver:	n/a	n/a
14	FAM48A	chr19:35885159-35885318	GM12878	blood:	n/a	n/a
15	FOXA1	chr19:35886811-35887164	HepG2	liver:	n/a	n/a
16	FOXA1	chr19:35886776-35887192	HepG2	liver:	n/a	n/a
17	FOXA1	chr19:35886779-35887348	HepG2	liver:	n/a	n/a
18	FOXA2	chr19:35886886-35887183	HepG2	liver:	n/a	n/a
19	JUN	chr19:35887517-35887664	HepG2	liver:	n/a	chr19:35887579-35887592
20	JUND	chr19:35886891-35886914	H1-hESC	embryonic stem cell:	n/a	n/a
21	JUND	chr19:35887457-35887657	HepG2	liver:	n/a	n/a
22	KAP1	chr19:35886670-35887171	HEK293	kidney:	n/a	n/a
23	KAP1	chr19:35886680-35887165	U2OS	brain:	n/a	n/a
24	MAFF	chr19:35886887-35887083	HepG2	liver:	n/a	n/a
25	MAFK	chr19:35886910-35886968	HepG2	liver:	n/a	n/a
26	MAFK	chr19:35884978-35885053	HepG2	liver:	n/a	n/a
27	MAFK	chr19:35886934-35887044	HepG2	liver:	n/a	n/a
28	MAZ	chr19:35886911-35887063	HepG2	liver:	n/a	n/a
29	MYC	chr19:35886899-35887021	HepG2	liver:	n/a	n/a
30	RCOR1	chr19:35886922-35886950	HepG2	liver:	n/a	n/a
31	RFX5	chr19:35886955-35887036	HepG2	liver:	n/a	n/a
32	SETDB1	chr19:35886844-35887141	U2OS	brain:	n/a	n/a
33	SPI1	chr19:35886390-35886607	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr19:35884793-35884893	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:
2	chr19:35881601..35884861-chr19:35885155..35888151,3	K562	blood:
3	chr19:35885135..35886720-chr19:35887964..35890211,2	K562	blood:
4	chr19:35885081..35886581-chr6:162062521..162064392,2	K562	blood:

Variant related genes	Relation type
ENSG00000205786	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373494965	chr19:35884901-35884902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs12971509	chr19:35884904-35884905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs541197735	chr19:35884906-35884907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191295788	chr19:35884925-35884926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578002226	chr19:35884956-35884957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58561436	chr19:35884972-35884973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs386808929	chr19:35885023-35885024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529280883	chr19:35885024-35885025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542591673	chr19:35885027-35885028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76210979	chr19:35885032-35885033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182618177	chr19:35885084-35885085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551570889	chr19:35885155-35885156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566433813	chr19:35885171-35885172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562516884	chr19:35885178-35885179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76826026	chr19:35885215-35885216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28397140	chr19:35885252-35885253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs66540453	chr19:35885267-35885268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148242222	chr19:35885273-35885274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186145441	chr19:35885284-35885285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538702914	chr19:35885297-35885298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548332319	chr19:35885320-35885321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112137328	chr19:35885346-35885347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555659825	chr19:35885353-35885354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150796794	chr19:35885377-35885378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534898266	chr19:35885426-35885427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs557883951	chr19:35885498-35885499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578120994	chr19:35885538-35885539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543592423	chr19:35885546-35885547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372576656	chr19:35885548-35885549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141036255	chr19:35885559-35885560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578196962	chr19:35885560-35885561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572429503	chr19:35885563-35885564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs137965731	chr19:35885570-35885571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190515772	chr19:35885576-35885577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397826888	chr19:35885580-35885581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145207123	chr19:35885581-35885582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534018399	chr19:35885606-35885607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573980543	chr19:35885690-35885691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552344438	chr19:35885705-35885706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572397603	chr19:35885762-35885763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543015288	chr19:35885834-35885835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs62109654	chr19:35885853-35885854	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528357945	chr19:35885871-35885872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538159110	chr19:35885877-35885878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564982351	chr19:35885955-35885956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530724887	chr19:35885956-35885957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376055238	chr19:35885964-35885965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547065250	chr19:35886030-35886031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556156211	chr19:35886054-35886055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142307327	chr19:35886091-35886092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35880600-35886600	Weak transcription	Pancreas	Pancrea
2	chr19:35880600-35886600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:35881000-35886600	Weak transcription	K562	blood
4	chr19:35881200-35886600	Weak transcription	Stomach Mucosa	stomach
5	chr19:35884200-35886600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:35884200-35890800	Weak transcription	Right Atrium	heart
7	chr19:35884400-35886600	Weak transcription	GM12878-XiMat	blood
8	chr19:35884600-35886200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr19:35884800-35886000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:35884800-35886000	Weak transcription	HepG2	liver
11	chr19:35884800-35886600	Weak transcription	Fetal Brain Male	brain
12	chr19:35884800-35886600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr19:35886000-35886600	Enhancers	HepG2	liver
14	chr19:35886000-35887600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:35886200-35887800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr19:35886200-35887800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr19:35886400-35886800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:35886400-35887000	Enhancers	Colon Smooth Muscle	Colon
19	chr19:35886600-35886800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:35886600-35886800	Enhancers	Brain Angular Gyrus	brain
21	chr19:35886600-35886800	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr19:35886600-35886800	Enhancers	K562	blood
23	chr19:35886600-35887000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:35886600-35887000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:35886600-35887000	Enhancers	Brain Anterior Caudate	brain
26	chr19:35886600-35887000	Enhancers	Brain Hippocampus Middle	brain
27	chr19:35886600-35887000	Enhancers	Fetal Brain Male	brain
28	chr19:35886600-35887000	Enhancers	Fetal Brain Female	brain
29	chr19:35886600-35887000	Enhancers	Fetal Intestine Large	intestine
30	chr19:35886600-35887000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr19:35886600-35887000	Enhancers	Fetal Muscle Leg	muscle
32	chr19:35886600-35887000	Enhancers	Fetal Stomach	stomach
33	chr19:35886600-35887000	Enhancers	Lung	lung
34	chr19:35886600-35887000	Bivalent Enhancer	Hela-S3	cervix
35	chr19:35886600-35887000	Flanking Active TSS	HepG2	liver
36	chr19:35886600-35887200	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr19:35886600-35887200	Enhancers	Fetal Lung	lung
38	chr19:35886600-35887200	Enhancers	Placenta	Placenta
39	chr19:35886600-35887200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr19:35886600-35887200	Enhancers	Stomach Mucosa	stomach
41	chr19:35886600-35887200	Enhancers	GM12878-XiMat	blood
42	chr19:35886600-35887600	Enhancers	Fetal Intestine Small	intestine
43	chr19:35886600-35887600	Enhancers	Pancreas	Pancrea
44	chr19:35886600-35888000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr19:35886800-35887000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:35886800-35887000	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr19:35886800-35887200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr19:35886800-35887200	Enhancers	Brain Cingulate Gyrus	brain
49	chr19:35886800-35887200	Enhancers	Brain Substantia Nigra	brain
50	chr19:35886800-35887200	Enhancers	Spleen	Spleen

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