Variant report

Variant	nsv1058057
Chromosome Location	chr19:24346067-24596738
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	ATF1	chr19:24572572-24572769	K562	blood:	n/a	n/a
2	ATF1	chr19:24537676-24537697	K562	blood:	n/a	n/a
3	BACH1	chr19:24552889-24553266	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr19:24400119-24400496	K562	blood:	n/a	n/a
5	BACH1	chr19:24390853-24391219	K562	blood:	n/a	n/a
6	BACH1	chr19:24570626-24570998	K562	blood:	n/a	n/a
7	BATF	chr19:24576279-24576567	GM12878	blood:	n/a	n/a
8	BATF	chr19:24571012-24571239	GM12878	blood:	n/a	n/a
9	BATF	chr19:24474206-24474374	GM12878	blood:	n/a	n/a
10	BATF	chr19:24570687-24570875	GM12878	blood:	n/a	n/a
11	BATF	chr19:24574162-24574361	GM12878	blood:	n/a	n/a
12	BATF	chr19:24474207-24474368	GM12878	blood:	n/a	n/a
13	BATF	chr19:24582770-24582985	GM12878	blood:	n/a	n/a
14	BATF	chr19:24583053-24583342	GM12878	blood:	n/a	n/a
15	BATF	chr19:24570943-24571253	GM12878	blood:	n/a	n/a
16	BCL11A	chr19:24596155-24596510	GM12878	blood:	n/a	n/a
17	BCL11A	chr19:24474135-24474384	GM12878	blood:	n/a	n/a
18	BCL11A	chr19:24574148-24574433	GM12878	blood:	n/a	n/a
19	BCL11A	chr19:24474214-24474366	GM12878	blood:	n/a	n/a
20	BCL11A	chr19:24583048-24583303	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:24582801-24582947	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:24574198-24574495	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:24570956-24571191	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:24570959-24571186	GM12878	blood:	n/a	n/a
25	BHLHE40	chr19:24397872-24397882	K562	blood:	n/a	n/a
26	BHLHE40	chr19:24390853-24391220	K562	blood:	n/a	n/a
27	BHLHE40	chr19:24400119-24400495	K562	blood:	n/a	n/a
28	BHLHE40	chr19:24443344-24443416	GM12878	blood:	n/a	n/a
29	BHLHE40	chr19:24576309-24576577	HepG2	liver:	n/a	n/a
30	BHLHE40	chr19:24571025-24571255	HepG2	liver:	n/a	n/a
31	BHLHE40	chr19:24583129-24583373	HepG2	liver:	n/a	n/a
32	BHLHE40	chr19:24400205-24400377	HepG2	liver:	n/a	n/a
33	BRCA1	chr19:24390859-24391172	GM12878	blood:	n/a	n/a
34	BRCA1	chr19:24565150-24565159	GM12878	blood:	n/a	n/a
35	BRCA1	chr19:24397746-24398044	GM12878	blood:	n/a	n/a
36	BRCA1	chr19:24397698-24397890	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr19:24349024-24349030	HepG2	liver:	n/a	n/a
38	CEBPB	chr19:24371886-24371892	A549	lung:	n/a	n/a
39	CEBPB	chr19:24548372-24548676	HepG2	liver:	n/a	chr19:24548530-24548541
40	CEBPB	chr19:24375573-24375955	IMR90	lung:	n/a	chr19:24375690-24375701
41	CEBPB	chr19:24541988-24542011	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr19:24375281-24376309	Hela-S3	cervix:	n/a	chr19:24375690-24375701
43	CEBPB	chr19:24546893-24547184	A549	lung:	n/a	n/a
44	CEBPB	chr19:24348847-24349234	IMR90	lung:	n/a	chr19:24349036-24349047
45	CEBPB	chr19:24368573-24368768	A549	lung:	n/a	n/a
46	CEBPB	chr19:24375510-24376151	A549	lung:	n/a	chr19:24375690-24375701
47	CEBPB	chr19:24400120-24400495	K562	blood:	n/a	n/a
48	CEBPB	chr19:24375584-24376150	HepG2	liver:	n/a	chr19:24375690-24375701
49	CEBPB	chr19:24378262-24378393	K562	blood:	n/a	chr19:24378316-24378327 chr19:24378318-24378329
50	CEBPB	chr19:24367145-24367873	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456855..24458356,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF681-6	chr19:24344995-24346249	NONHSAT063959

Variant related genes	Relation type
HAVCR1P1	TF binding region

Extended variants
information (count: 14706 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:14706 , 50 per page) page: 1 2 3 4 5 6 7 ... 295

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558785033	chr19:24346086-24346087	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
2	rs116099103	chr19:24346087-24346088	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
3	rs539073878	chr19:24346133-24346134	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
4	rs186462666	chr19:24346139-24346140	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
5	rs576852395	chr19:24346160-24346161	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
6	rs116312685	chr19:24346217-24346218	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
7	rs919812	chr19:24346227-24346228	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574299052	chr19:24346229-24346230	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
9	rs919813	chr19:24346233-24346234	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs143661811	chr19:24346248-24346249	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
11	rs148105029	chr19:24346284-24346285	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs551531504	chr19:24346306-24346307	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs192946921	chr19:24346309-24346310	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs563321900	chr19:24346310-24346311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs531535211	chr19:24346311-24346312	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs549681823	chr19:24346364-24346365	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs4500885	chr19:24346377-24346378	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs141310733	chr19:24346384-24346385	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182867961	chr19:24346390-24346391	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs547532188	chr19:24346403-24346404	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370460551	chr19:24346437-24346438	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs565675935	chr19:24346491-24346492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs539514225	chr19:24346493-24346494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs188781879	chr19:24346514-24346515	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs2278443	chr19:24346532-24346533	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs145071046	chr19:24346550-24346551	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73524185	chr19:24346592-24346593	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs138952260	chr19:24346596-24346597	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553529374	chr19:24346604-24346605	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs192877830	chr19:24346607-24346608	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545469571	chr19:24346618-24346619	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs563408193	chr19:24346619-24346620	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs115767555	chr19:24346625-24346626	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542567585	chr19:24346673-24346674	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563292317	chr19:24346693-24346694	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561660020	chr19:24346727-24346728	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs529181656	chr19:24346734-24346735	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547320125	chr19:24346735-24346736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565843410	chr19:24346748-24346749	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs185848843	chr19:24346761-24346762	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs576720470	chr19:24346770-24346771	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551514190	chr19:24346782-24346783	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs374928359	chr19:24346793-24346794	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs569739692	chr19:24346861-24346862	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs537045306	chr19:24346874-24346875	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs546131256	chr19:24346880-24346881	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs539512743	chr19:24346916-24346917	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs142187502	chr19:24346935-24346936	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs34939730	chr19:24346972-24346973	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs111358422	chr19:24346997-24346998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	21248843	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:411 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24320800-24349200	Weak transcription	Right Ventricle	heart
2	chr19:24321200-24347800	Weak transcription	NH-A	brain
3	chr19:24322200-24348400	Weak transcription	HSMMtube	muscle
4	chr19:24328600-24349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:24334400-24349000	Weak transcription	Fetal Heart	heart
6	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr19:24339400-24351200	Weak transcription	HSMM	muscle
8	chr19:24343800-24346800	ZNF genes & repeats	Ovary	ovary
9	chr19:24344000-24348000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:24344200-24347400	ZNF genes & repeats	Fetal Brain Female	brain
11	chr19:24344400-24354800	Weak transcription	Dnd41	blood
12	chr19:24345000-24347200	ZNF genes & repeats	Adipose Nuclei	Adipose
13	chr19:24345000-24347800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:24345200-24346800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
15	chr19:24345200-24347000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:24345400-24346400	ZNF genes & repeats	Fetal Stomach	stomach
17	chr19:24345400-24346400	ZNF genes & repeats	Left Ventricle	heart
18	chr19:24345400-24346800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:24345400-24347000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr19:24345600-24346200	ZNF genes & repeats	Lung	lung
21	chr19:24345800-24346200	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr19:24345800-24349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr19:24346200-24348200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
26	chr19:24346600-24346800	Weak transcription	Fetal Stomach	stomach
27	chr19:24346800-24350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:24347000-24348600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr19:24347800-24348200	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:24348000-24348800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:24348400-24350000	Enhancers	HSMMtube	muscle
33	chr19:24348800-24349000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:24349000-24349200	Enhancers	Fetal Heart	heart
35	chr19:24349000-24349400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:24349400-24352400	Weak transcription	Ovary	ovary
37	chr19:24349800-24350200	ZNF genes & repeats	Aorta	Aorta
38	chr19:24350000-24350200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr19:24350000-24354000	Weak transcription	HSMMtube	muscle
40	chr19:24350200-24353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:24351400-24355200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr19:24352200-24355000	ZNF genes & repeats	Fetal Brain Female	brain
43	chr19:24352400-24354000	Strong transcription	Ovary	ovary
44	chr19:24352800-24355800	ZNF genes & repeats	Brain Germinal Matrix	brain
45	chr19:24353600-24354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:24353800-24354200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:24354000-24355000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
48	chr19:24354000-24356800	Weak transcription	Ovary	ovary
49	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:24356600-24356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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