Variant report

Variant	nsv526166
Chromosome Location	chr19:36156588-36159368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:305)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:36157105-36157160	MCF-7	breast:	n/a	n/a
2	CTCF	chr19:36157089-36157154	MCF-7	breast:	n/a	n/a
3	ELF1	chr19:36157018-36157477	MCF-7	breast:	n/a	chr19:36157278-36157290
4	FOXA1	chr19:36157152-36157350	T-47D	breast:	n/a	n/a
5	GATA3	chr19:36157012-36157434	T-47D	breast:	n/a	n/a
6	GATA3	chr19:36157070-36157411	T-47D	breast:	n/a	n/a
7	GATA3	chr19:36156829-36157534	MCF-7	breast:	n/a	n/a
8	GATA3	chr19:36156990-36157388	MCF-7	breast:	n/a	n/a
9	GATA3	chr19:36156971-36157572	MCF-7	breast:	n/a	n/a
10	MAX	chr19:36156965-36157525	MCF-7	breast:	n/a	chr19:36157443-36157453
11	NR2F2	chr19:36156956-36157593	MCF-7	breast:	n/a	n/a
12	POLR2A	chr19:36156618-36156858	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr19:36156962-36157563	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr19:36157277-36157315	ProgFib	skin:	n/a	n/a
15	POLR2A	chr19:36156492-36158098	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr19:36157195-36157450	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:36157387-36157390	GM12878	blood:	n/a	n/a
18	POLR2A	chr19:36157055-36157593	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr19:36157196-36157380	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:36157093-36157166	ProgFib	skin:	n/a	n/a
21	POLR2A	chr19:36157053-36157865	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr19:36156410-36157863	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr19:36156845-36156952	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:36156940-36157642	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr19:36157131-36157209	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr19:36156955-36157719	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr19:36157208-36157465	HL-60	blood:	n/a	n/a
28	POLR2A	chr19:36157027-36157675	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr19:36157026-36157293	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr19:36157157-36157164	MCF-7	breast:	n/a	n/a
31	TCF7L2	chr19:36157101-36157382	MCF-7	breast:	n/a	n/a
32	ZNF217	chr19:36157098-36157341	MCF-7	breast:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:36157677-36157727	GM19239	blood:	n/a
2	chr19:36157533-36157583	SAEC	small airway:	n/a
3	chr19:36157607-36157657	GM06990	blood:	n/a
4	chr19:36157533-36157583	SK-N-SH_RA	brain:	n/a
5	chr19:36157825-36157875	NB4	blood:	n/a
6	chr19:36157825-36157875	ECC-1	luminal epithelium:	n/a
7	chr19:36157677-36157727	HEK293	kidney:	embryo
8	chr19:36157533-36157583	GM12892	blood:	n/a
9	chr19:36157533-36157583	AoSMC	blood vessel:	n/a
10	chr19:36157677-36157727	HEEpiC	esophagus:	n/a
11	chr19:36157533-36157583	ECC-1	luminal epithelium:	n/a
12	chr19:36157825-36157875	ovcar-3	ovarian:	n/a
13	chr19:36157677-36157727	BJ	skin:	n/a
14	chr19:36157677-36157727	ECC-1	luminal epithelium:	n/a
15	chr19:36157825-36157875	SK-N-MC	brain:	n/a
16	chr19:36157825-36157875	PANC-1	pancreas:	n/a
17	chr19:36157533-36157583	GM06990	blood:	n/a
18	chr19:36157607-36157657	CMK	blood:	n/a
19	chr19:36157677-36157727	HCT-116	colon:	n/a
20	chr19:36157677-36157727	PFSK-1	brain:	n/a
21	chr19:36157719-36157769	SKMC	muscle:	n/a
22	chr19:36157607-36157657	RPTEC	kidney:	n/a
23	chr19:36157719-36157769	PrEC	prostate:	n/a
24	chr19:36157677-36157727	HRCEpiC	kidney:	n/a
25	chr19:36157677-36157727	Hela-S3	cervix:	n/a
26	chr19:36157719-36157769	RPTEC	kidney:	n/a
27	chr19:36157825-36157875	GM06990	blood:	n/a
28	chr19:36157533-36157583	ovcar-3	ovarian:	n/a
29	chr19:36157825-36157875	AG09319	gingival:	n/a
30	chr19:36157677-36157727	NB4	blood:	n/a
31	chr19:36157719-36157769	BE2_C	brain:	n/a
32	chr19:36157533-36157583	LNCaP	prostate:	n/a
33	chr19:36157607-36157657	NH-A	brain:	n/a
34	chr19:36157719-36157769	PFSK-1	brain:	n/a
35	chr19:36157533-36157583	HMEC	breast:	n/a
36	chr19:36157825-36157875	NHBE	bronchial:	n/a
37	chr19:36157533-36157583	NHDF-neo	bronchial:	n/a
38	chr19:36157677-36157727	AG09319	gingival:	n/a
39	chr19:36157677-36157727	BE2_C	brain:	n/a
40	chr19:36157825-36157875	HCPEpiC	choroid plexus:	n/a
41	chr19:36157825-36157875	HUVEC	blood vessel:	n/a
42	chr19:36157719-36157769	CMK	blood:	n/a
43	chr19:36157825-36157875	GM19239	blood:	n/a
44	chr19:36157719-36157769	MCF-7	breast:	n/a
45	chr19:36157825-36157875	HRCEpiC	kidney:	n/a
46	chr19:36157677-36157727	A549	lung:	n/a
47	chr19:36157533-36157583	SKMC	muscle:	n/a
48	chr19:36157719-36157769	HRPEpiC	eye:	n/a
49	chr19:36157677-36157727	NHDF-neo	bronchial:	n/a
50	chr19:36157533-36157583	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36159215..36161380-chr19:36163087..36164675,2	K562	blood:

No data

Variant related genes	Relation type
UPK1A	TF binding region
UPK1A	CpG island
ENSG00000226510	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2267584	chr19:36156588-36156589	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4806189	chr19:36156605-36156606	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs144182658	chr19:36156626-36156627	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2267585	chr19:36156630-36156631	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528607609	chr19:36156653-36156654	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs546295939	chr19:36156675-36156676	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551456814	chr19:36156684-36156685	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs571345599	chr19:36156762-36156763	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558839478	chr19:36156777-36156778	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530821013	chr19:36156796-36156797	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs550511975	chr19:36156805-36156806	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs567471054	chr19:36156838-36156839	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs146548630	chr19:36156840-36156841	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs552925507	chr19:36156878-36156879	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531737325	chr19:36156910-36156911	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs549956610	chr19:36156918-36156919	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs538420934	chr19:36156944-36156945	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs566635774	chr19:36156970-36156971	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs73600880	chr19:36157012-36157013	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558695785	chr19:36157066-36157067	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs113642665	chr19:36157087-36157088	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141297412	chr19:36157088-36157089	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544248168	chr19:36157137-36157138	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs554517918	chr19:36157140-36157141	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs10422762	chr19:36157167-36157168	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs543285699	chr19:36157182-36157183	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs200232826	chr19:36157264-36157265	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs146751762	chr19:36157265-36157266	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs34993194	chr19:36157267-36157268	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs372927294	chr19:36157304-36157305	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs112506523	chr19:36157320-36157321	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs71853033	chr19:36157321-36157322	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs573090971	chr19:36157330-36157331	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567119774	chr19:36157341-36157342	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs565038789	chr19:36157364-36157365	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs530881641	chr19:36157369-36157370	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs550577301	chr19:36157485-36157486	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73931240	chr19:36157492-36157493	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs192083365	chr19:36157533-36157534	Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs546869040	chr19:36157590-36157591	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs371218106	chr19:36157592-36157593	Weak transcription Strong transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145078164	chr19:36157664-36157665	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs538839986	chr19:36157671-36157672	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375310334	chr19:36157677-36157678	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs374611091	chr19:36157696-36157697	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs552372624	chr19:36157706-36157707	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs367904056	chr19:36157719-36157720	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138472065	chr19:36157725-36157726	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533602270	chr19:36157726-36157727	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs200335323	chr19:36157732-36157733	Weak transcription ZNF genes & repeats 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
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
Breast cancer	21509527	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36140400-36164000	Weak transcription	Right Atrium	heart
2	chr19:36140600-36157200	Strong transcription	Fetal Stomach	stomach
3	chr19:36141000-36157000	Strong transcription	Fetal Muscle Trunk	muscle
4	chr19:36141400-36156800	Strong transcription	Spleen	Spleen
5	chr19:36141400-36157200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:36141800-36156800	Strong transcription	Fetal Thymus	thymus
7	chr19:36142200-36156800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:36142200-36156800	Strong transcription	Left Ventricle	heart
9	chr19:36142200-36157800	Weak transcription	Fetal Heart	heart
10	chr19:36142800-36157200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:36144400-36156800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr19:36144600-36156600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:36144600-36156800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:36144600-36156800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:36144600-36157200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:36144600-36157600	Strong transcription	Thymus	Thymus
17	chr19:36144800-36156600	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr19:36144800-36156600	Strong transcription	Gastric	stomach
19	chr19:36144800-36156800	Strong transcription	Brain Anterior Caudate	brain
20	chr19:36144800-36157000	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:36145800-36157200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:36149600-36157000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr19:36149600-36158200	Weak transcription	Colon Smooth Muscle	Colon
24	chr19:36149600-36164000	Weak transcription	HMEC	breast
25	chr19:36149800-36157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:36149800-36158000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr19:36149800-36158200	Weak transcription	NH-A	brain
28	chr19:36149800-36158400	Weak transcription	Fetal Brain Male	brain
29	chr19:36149800-36158400	Weak transcription	Small Intestine	intestine
30	chr19:36149800-36161600	Weak transcription	Osteobl	bone
31	chr19:36149800-36163400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:36150000-36158000	Weak transcription	Fetal Brain Female	brain
33	chr19:36150000-36160800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:36150200-36156600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:36150200-36157600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:36151000-36156800	Weak transcription	Dnd41	blood
37	chr19:36151000-36157200	Weak transcription	HSMMtube	muscle
38	chr19:36151000-36158200	Weak transcription	Colonic Mucosa	Colon
39	chr19:36151000-36158400	Weak transcription	Fetal Intestine Large	intestine
40	chr19:36151200-36157200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr19:36151200-36157400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr19:36151200-36158000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:36151200-36158200	Weak transcription	NHEK	skin
44	chr19:36151200-36158400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:36151200-36158600	Weak transcription	Brain Germinal Matrix	brain
46	chr19:36151200-36158600	Weak transcription	NHLF	lung
47	chr19:36151200-36159200	Weak transcription	Ovary	ovary
48	chr19:36151200-36159200	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:36151200-36159400	Weak transcription	A549	lung
50	chr19:36151200-36160800	Weak transcription	Brain Substantia Nigra	brain

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