Variant report

Variant	nsv960761
Chromosome Location	chr19:38419928-38422738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:304)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:38422594-38422852	HepG2	liver:	n/a	n/a
2	ATF3	chr19:38422421-38423693	A549	lung:	n/a	n/a
3	ATF3	chr19:38422396-38424733	A549	lung:	n/a	n/a
4	BCL3	chr19:38422294-38424912	A549	lung:	n/a	chr19:38423719-38423728
5	BCL3	chr19:38422236-38424526	A549	lung:	n/a	chr19:38423719-38423728
6	BCLAF1	chr19:38422454-38423239	GM12878	blood:	n/a	n/a
7	BHLHE40	chr19:38422565-38423569	A549	lung:	n/a	n/a
8	BHLHE40	chr19:38422561-38423382	HepG2	liver:	n/a	n/a
9	BHLHE40	chr19:38422583-38423395	GM12878	blood:	n/a	n/a
10	CEBPB	chr19:38421123-38421404	HepG2	liver:	n/a	n/a
11	CEBPB	chr19:38422706-38422884	HepG2	liver:	n/a	n/a
12	CHD1	chr19:38422630-38423229	GM12878	blood:	n/a	n/a
13	CHD2	chr19:38422580-38423266	GM12878	blood:	n/a	n/a
14	CHD2	chr19:38422697-38423214	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr19:38422536-38423393	A549	lung:	n/a	n/a
16	CREB1	chr19:38422614-38423293	A549	lung:	n/a	n/a
17	CTBP2	chr19:38420055-38420448	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:38422706-38422768	LNCaP	prostate:	n/a	n/a
19	CTCF	chr19:38422600-38422750	HCM	heart:	n/a	n/a
20	CTCF	chr19:38422640-38422790	HPAF	blood vessel:	n/a	n/a
21	CTCF	chr19:38422680-38422830	AG09309	skin:	n/a	n/a
22	CTCF	chr19:38421260-38421410	SAEC	small airway:	n/a	n/a
23	CTCF	chr19:38422600-38422750	GM12873	blood:	n/a	n/a
24	CTCF	chr19:38422580-38422730	RPTEC	kidney:	n/a	n/a
25	CTCF	chr19:38422700-38422850	AG09319	gingival:	n/a	n/a
26	CTCF	chr19:38422712-38422802	GM12878	blood:	n/a	n/a
27	CTCF	chr19:38422580-38422730	GM12872	blood:	n/a	n/a
28	CTCF	chr19:38422720-38422870	HEK293	kidney:	n/a	n/a
29	CTCF	chr19:38422640-38422790	GM12872	blood:	n/a	n/a
30	CTCF	chr19:38422707-38422789	GM10266	blood:	n/a	n/a
31	CTCF	chr19:38420040-38420190	GM12870	blood:	n/a	n/a
32	CTCF	chr19:38422703-38422864	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:38420340-38420490	HEK293	kidney:	n/a	n/a
34	CTCF	chr19:38422560-38422710	A549	lung:	n/a	n/a
35	CTCF	chr19:38422720-38422870	HCM	heart:	n/a	n/a
36	CTCF	chr19:38422640-38422790	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr19:38422600-38422750	SAEC	small airway:	n/a	n/a
38	CTCF	chr19:38422702-38422834	A549	lung:	n/a	n/a
39	CTCF	chr19:38422620-38422770	HAc	cerebellar:	n/a	n/a
40	CTCF	chr19:38422708-38422813	GM10248	blood:	n/a	n/a
41	CTCF	chr19:38420345-38420423	GM10248	blood:	n/a	n/a
42	CTCF	chr19:38422660-38422810	GM12871	blood:	n/a	n/a
43	CTCF	chr19:38422680-38422830	HFF	foreskin:	n/a	n/a
44	CTCF	chr19:38422672-38422869	GM19239	blood:	n/a	n/a
45	CTCF	chr19:38420240-38420390	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr19:38422680-38422830	AG10803	skin:	n/a	n/a
47	CTCF	chr19:38422705-38422794	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:38422660-38422810	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr19:38422660-38422810	NHLF	lung:	n/a	n/a
50	CTCF	chr19:38422640-38422790	HBMEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:38420982..38422890-chr19:38471015..38472804,2	MCF-7	breast:
2	chr19:38403265..38407111-chr19:38419790..38421668,3	MCF-7	breast:
3	chr19:38396701..38399337-chr19:38419695..38422490,2	K562	blood:
4	chr19:38415914..38418453-chr19:38418940..38421267,2	MCF-7	breast:
5	chr19:38393450..38400778-chr19:38419865..38427350,17	MCF-7	breast:
6	chr19:38395556..38401665-chr19:38419693..38425913,12	MCF-7	breast:

No data

Variant related genes	Relation type
SIPA1L3	TF binding region
ENSG00000171804	chromatin interactions
ENSG00000105738	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368150176	chr19:38419942-38419943	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs372324773	chr19:38419966-38419967	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs560742471	chr19:38420015-38420016	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs531388778	chr19:38420033-38420034	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572607075	chr19:38420036-38420037	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546298799	chr19:38420040-38420041	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs564519246	chr19:38420042-38420043	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs189587953	chr19:38420142-38420143	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs377137245	chr19:38420210-38420211	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs531729919	chr19:38420263-38420264	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181357600	chr19:38420274-38420275	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs141255870	chr19:38420290-38420291	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs75389086	chr19:38420389-38420390	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs35885392	chr19:38420402-38420403	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs73029180	chr19:38420406-38420407	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs567555774	chr19:38420487-38420488	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs183593319	chr19:38420502-38420503	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs569961696	chr19:38420507-38420508	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs537545449	chr19:38420523-38420524	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs560922860	chr19:38420539-38420540	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs571443311	chr19:38420597-38420598	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs9304572	chr19:38420606-38420607	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs117507835	chr19:38420643-38420644	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs34993739	chr19:38420665-38420666	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs67797361	chr19:38420666-38420667	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs78222395	chr19:38420682-38420683	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs554022212	chr19:38420733-38420734	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572342364	chr19:38420740-38420741	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542560830	chr19:38420789-38420790	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554507638	chr19:38420806-38420807	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529515058	chr19:38420809-38420810	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs188291457	chr19:38420813-38420814	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543483620	chr19:38420814-38420815	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs112328664	chr19:38420820-38420821	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs148325169	chr19:38420825-38420826	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373519270	chr19:38420826-38420827	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141451464	chr19:38420851-38420852	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs376925007	chr19:38420852-38420853	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs181821309	chr19:38420972-38420973	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs569806373	chr19:38420977-38420978	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs548645195	chr19:38420978-38420979	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570027499	chr19:38421018-38421019	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs186368608	chr19:38421037-38421038	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs150356146	chr19:38421088-38421089	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs570922253	chr19:38421089-38421090	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs191702998	chr19:38421130-38421131	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs369308013	chr19:38421146-38421147	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs74944431	chr19:38421180-38421181	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs78560614	chr19:38421195-38421196	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs536536908	chr19:38421245-38421246	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:318 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38398600-38422600	Weak transcription	Aorta	Aorta
2	chr19:38398800-38433800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:38399000-38422400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:38399200-38422400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:38399200-38422600	Weak transcription	Fetal Lung	lung
6	chr19:38399200-38424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:38399600-38422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:38399600-38424000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr19:38399600-38424200	Weak transcription	Right Atrium	heart
10	chr19:38399600-38441200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:38399800-38421200	Weak transcription	Gastric	stomach
12	chr19:38399800-38421800	Weak transcription	Left Ventricle	heart
13	chr19:38399800-38422400	Weak transcription	Fetal Brain Female	brain
14	chr19:38399800-38422600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr19:38400000-38422000	Weak transcription	HSMM	muscle
16	chr19:38400400-38421800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr19:38400600-38422000	Weak transcription	HSMMtube	muscle
18	chr19:38400600-38422400	Weak transcription	HUVEC	blood vessel
19	chr19:38400800-38422400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr19:38401000-38421600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr19:38401200-38421200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:38402000-38422600	Weak transcription	Fetal Brain Male	brain
23	chr19:38405200-38422600	Weak transcription	Right Ventricle	heart
24	chr19:38405600-38422800	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:38406000-38422600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr19:38410200-38422200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:38410200-38422400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr19:38410400-38422400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:38411600-38422600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:38411800-38421200	Weak transcription	NHEK	skin
31	chr19:38411800-38422200	Weak transcription	Brain Angular Gyrus	brain
32	chr19:38411800-38422200	Weak transcription	NH-A	brain
33	chr19:38411800-38422600	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr19:38411800-38426200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr19:38412000-38422000	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:38412000-38422600	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:38412000-38423800	Weak transcription	Lung	lung
38	chr19:38412200-38421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:38412200-38422600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:38412200-38422800	Weak transcription	Adipose Nuclei	Adipose
41	chr19:38412200-38423000	Weak transcription	Thymus	Thymus
42	chr19:38412400-38421200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:38412800-38422000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:38413400-38421800	Weak transcription	Fetal Muscle Leg	muscle
45	chr19:38413400-38422000	Weak transcription	Fetal Stomach	stomach
46	chr19:38416600-38420400	Flanking Active TSS	GM12878-XiMat	blood
47	chr19:38416600-38420600	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr19:38417000-38421000	Weak transcription	Osteobl	bone
49	chr19:38417200-38420200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:38417200-38420600	Enhancers	Sigmoid Colon	Sigmoid Colon

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