Variant report

Variant	nsv579377
Chromosome Location	chr19:35662257-35673243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35669103..35671214-chr19:35737457..35739938,2	K562	blood:
2	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
3	chr19:35670858..35673817-chr19:35687638..35690435,2	K562	blood:
4	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
5	chr19:35662646..35664738-chr19:35675000..35677629,2	K562	blood:
6	chr19:35666862..35669002-chr19:35676994..35679868,2	K562	blood:
7	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
8	chr19:35671709..35673473-chr19:35759064..35761234,2	K562	blood:
9	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:
10	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:
11	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
12	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
13	chr19:35656275..35658757-chr19:35668459..35673698,5	K562	blood:
14	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
15	chr19:35659165..35661294-chr19:35670153..35671780,2	K562	blood:
16	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
17	chr19:35672500..35675529-chr19:35737438..35741898,4	K562	blood:
18	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
19	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105699	chromatin interactions
ENSG00000105698	chromatin interactions
ENSG00000105697	chromatin interactions
ENSG00000089327	chromatin interactions

Extended variants
information (count: 481 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7249578	chr19:35662257-35662258	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs66465261	chr19:35662315-35662316	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs7254324	chr19:35662316-35662317	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs374397170	chr19:35662406-35662407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs567061672	chr19:35662411-35662412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs575134341	chr19:35662456-35662457	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs6510468	chr19:35662457-35662458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs10410590	chr19:35662504-35662505	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2014850	chr19:35662505-35662506	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs186539362	chr19:35662513-35662514	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190663014	chr19:35662527-35662528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182042650	chr19:35662550-35662551	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs739494	chr19:35662551-35662552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs549060472	chr19:35662573-35662574	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371270618	chr19:35662596-35662597	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs2003447	chr19:35662603-35662604	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs368476131	chr19:35662612-35662613	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs530930523	chr19:35662632-35662633	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs550738370	chr19:35662637-35662638	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs114986689	chr19:35662649-35662650	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs374335753	chr19:35662697-35662698	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536577336	chr19:35662740-35662741	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs13344454	chr19:35662787-35662788	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs739495	chr19:35662809-35662810	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs538843727	chr19:35662824-35662825	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs201601378	chr19:35662842-35662843	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369345848	chr19:35662843-35662844	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs7258030	chr19:35662844-35662845	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs80136969	chr19:35662899-35662900	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs541738060	chr19:35662953-35662954	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs116998212	chr19:35662979-35662980	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs55790357	chr19:35662990-35662991	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs113033370	chr19:35663030-35663031	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs554639727	chr19:35663100-35663101	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs373904063	chr19:35663101-35663102	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs186377839	chr19:35663114-35663115	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs559630295	chr19:35663132-35663133	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs573054398	chr19:35663144-35663145	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs148462240	chr19:35663145-35663146	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs565370714	chr19:35663172-35663173	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs28434318	chr19:35663197-35663198	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs386808899	chr19:35663241-35663242	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs189994333	chr19:35663244-35663245	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs756845	chr19:35663250-35663251	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs546872763	chr19:35663252-35663253	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs8109080	chr19:35663290-35663291	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182150959	chr19:35663305-35663306	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113976280	chr19:35663322-35663323	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369585364	chr19:35663325-35663326	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs114245201	chr19:35663334-35663335	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	18160780	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:266 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
3	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
5	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
9	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
13	chr19:35658000-35662600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:35658000-35667000	Weak transcription	HSMM	muscle
16	chr19:35658200-35662600	Weak transcription	HUVEC	blood vessel
17	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr19:35658200-35666800	Weak transcription	Osteobl	bone
19	chr19:35658400-35662600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:35658400-35663200	Weak transcription	Aorta	Aorta
21	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr19:35658800-35667200	Weak transcription	NH-A	brain
23	chr19:35659400-35663600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:35659400-35665600	Weak transcription	A549	lung
25	chr19:35659600-35662600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr19:35659600-35662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr19:35659600-35663200	Strong transcription	K562	blood
28	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
30	chr19:35659800-35662600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:35659800-35662800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
33	chr19:35660400-35664200	Weak transcription	Hela-S3	cervix
34	chr19:35660600-35662600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr19:35660600-35662600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:35660800-35662400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr19:35660800-35663600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:35660800-35663800	Weak transcription	Dnd41	blood
39	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:35661000-35662400	Weak transcription	Primary B cells from peripheral blood	blood
41	chr19:35661000-35662600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:35661000-35663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr19:35661000-35666800	Weak transcription	Lung	lung
44	chr19:35661200-35663200	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr19:35661200-35666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:35661400-35662800	Strong transcription	NHDF-Ad	bronchial
47	chr19:35661400-35664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:35661400-35667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:35661600-35662400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr19:35661600-35662600	Weak transcription	Primary B cells from cord blood	blood

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