Variant report

Variant	nsv963054
Chromosome Location	chr19:43025184-43027646
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	CTCF	chr19:43027461-43027537	MCF-7	breast:	n/a	chr19:43027511-43027524 chr19:43027510-43027531
2	CTCF	chr19:43027380-43027530	Caco-2	colon:	n/a	chr19:43027511-43027524
3	CTCF	chr19:43027400-43027550	GM12878	blood:	n/a	chr19:43027511-43027524 chr19:43027510-43027531
4	CTCF	chr19:43027420-43027570	HEK293	kidney:	n/a	chr19:43027511-43027524 chr19:43027510-43027531
5	CTCF	chr19:43027450-43027534	GM12891	blood:	n/a	chr19:43027511-43027524 chr19:43027510-43027531
6	CTCF	chr19:43027460-43027610	GM06990	blood:	n/a	chr19:43027511-43027524 chr19:43027510-43027531
7	CTCF	chr19:43027429-43027548	H1-hESC	embryonic stem cell:	n/a	chr19:43027511-43027524 chr19:43027510-43027531
8	ELK1	chr19:43025422-43025460	GM12878	blood:	n/a	n/a
9	EP300	chr19:43025599-43025754	GM12878	blood:	n/a	n/a
10	JUND	chr19:43025709-43025760	K562	blood:	n/a	n/a
11	POLR2A	chr19:43026110-43026156	HepG2	liver:	n/a	n/a
12	POLR2A	chr19:43026694-43026713	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:43026865-43027436	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:43025322-43025867	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:43025388-43025835	HL-60	blood:	n/a	n/a
16	POLR2A	chr19:43026673-43026681	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:43026727-43026774	HepG2	liver:	n/a	n/a
18	RUNX3	chr19:43025422-43025791	GM12878	blood:	n/a	n/a
19	RUNX3	chr19:43025507-43025797	GM12878	blood:	n/a	n/a
20	SPI1	chr19:43025490-43025960	HL-60	blood:	n/a	n/a
21	TBL1XR1	chr19:43025641-43025647	GM12878	blood:	n/a	n/a
22	ZEB1	chr19:43027135-43027404	GM12878	blood:	n/a	chr19:43027264-43027273 chr19:43027250-43027259 chr19:43027266-43027273

No.	Distal block	Cell Line	Cell type
1	chr19:43026349..43028606-chr19:43031972..43033644,2	K562	blood:
2	chr19:43015384..43018230-chr19:43027270..43028930,2	MCF-7	breast:
3	chr19:43023426..43026592-chr19:43026629..43028829,3	K562	blood:
4	chr19:43027445..43029182-chr19:43031157..43032882,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011497.1-2	chr19:43026144-43026250	ENSG00000213904.4
2	lnc-CXCL17-3	chr19:43025420-43025500	NONHSAT066562

Variant related genes	Relation type
CEACAM1	TF binding region
ENSG00000079385	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545839986	chr19:43025202-43025203	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576832186	chr19:43025254-43025255	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182330793	chr19:43025274-43025275	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372629899	chr19:43025311-43025312	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548335226	chr19:43025340-43025341	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs576921764	chr19:43025350-43025351	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs561744466	chr19:43025368-43025369	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146410449	chr19:43025431-43025432	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs140710372	chr19:43025432-43025433	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs150099950	chr19:43025433-43025434	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs376242453	chr19:43025468-43025469	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs550461015	chr19:43025489-43025490	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs148859595	chr19:43025521-43025522	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570443626	chr19:43025573-43025574	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs539432247	chr19:43025628-43025629	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs546693791	chr19:43025640-43025641	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200391182	chr19:43025667-43025668	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs377703170	chr19:43025680-43025681	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370245842	chr19:43025710-43025711	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs147713507	chr19:43025745-43025746	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs555886927	chr19:43025747-43025748	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs150696943	chr19:43025786-43025787	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs41323747	chr19:43025793-43025794	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs187578768	chr19:43025798-43025799	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs558465619	chr19:43025834-43025835	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62112060	chr19:43025859-43025860	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs41377750	chr19:43025932-43025933	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545779300	chr19:43025948-43025949	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs193280377	chr19:43025953-43025954	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs376102550	chr19:43025963-43025964	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140865480	chr19:43025983-43025984	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375125815	chr19:43026027-43026028	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185492446	chr19:43026050-43026051	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139266169	chr19:43026105-43026106	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143281867	chr19:43026110-43026111	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs190497484	chr19:43026111-43026112	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs376193692	chr19:43026116-43026117	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374133911	chr19:43026122-43026123	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550395240	chr19:43026141-43026142	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs368063399	chr19:43026154-43026155	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs147117200	chr19:43026183-43026184	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs202036573	chr19:43026206-43026207	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs370929480	chr19:43026221-43026222	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs144709978	chr19:43026222-43026223	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs141839295	chr19:43026224-43026225	Weak transcription Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs566761179	chr19:43026296-43026297	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535882194	chr19:43026327-43026328	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150626138	chr19:43026337-43026338	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373994942	chr19:43026354-43026355	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531064802	chr19:43026357-43026358	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43002200-43025200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:43003200-43030600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr19:43003400-43028400	Weak transcription	Esophagus	oesophagus
4	chr19:43003400-43029400	Weak transcription	Small Intestine	intestine
5	chr19:43006200-43029800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:43012200-43028200	Strong transcription	Liver	Liver
7	chr19:43013800-43032000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr19:43015600-43030800	Weak transcription	Left Ventricle	heart
9	chr19:43015800-43025400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr19:43016000-43032400	Weak transcription	Brain Anterior Caudate	brain
11	chr19:43016600-43029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr19:43016600-43031800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:43017000-43025200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr19:43017400-43031400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:43017800-43025600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:43018200-43030400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:43018600-43027200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:43019000-43029200	Weak transcription	Stomach Mucosa	stomach
19	chr19:43019400-43027000	Weak transcription	Placenta	Placenta
20	chr19:43020400-43030400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:43021600-43026200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr19:43021800-43027400	Strong transcription	Fetal Intestine Large	intestine
23	chr19:43022000-43026600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:43022000-43028200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr19:43022000-43028400	Genic enhancers	HepG2	liver
26	chr19:43022200-43028600	Strong transcription	Fetal Intestine Small	intestine
27	chr19:43023000-43025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr19:43023000-43026200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr19:43023000-43026200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr19:43023000-43026400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr19:43023000-43027800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr19:43023200-43026200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:43023200-43026400	Strong transcription	Primary T cells from cord blood	blood
34	chr19:43023200-43027600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:43023200-43032400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr19:43023400-43025400	Weak transcription	Gastric	stomach
37	chr19:43023600-43025200	Weak transcription	Lung	lung
38	chr19:43023600-43025600	Weak transcription	GM12878-XiMat	blood
39	chr19:43023600-43027200	Strong transcription	Spleen	Spleen
40	chr19:43023600-43029600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr19:43023600-43031600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:43023600-43032200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr19:43024000-43025400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
45	chr19:43024200-43026200	Strong transcription	Primary B cells from cord blood	blood
46	chr19:43024400-43026200	Strong transcription	Fetal Stomach	stomach
47	chr19:43024400-43027000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:43024800-43025400	Enhancers	H1 Cell Line	embryonic stem cell
49	chr19:43024800-43025600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:43024800-43025600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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