Variant report

Variant	nsv578742
Chromosome Location	chr19:18168674-18181779
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46152203..46153086-chr19:18168643..18169301,2	HCT-116	colon:
2	chr19:18117524..18118497-chr19:18170482..18171294,2	K562	blood:
3	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
4	chr19:18116678..18118349-chr19:18169310..18171624,2	MCF-7	breast:
5	chr19:18174801..18178222-chr19:18262412..18264976,3	K562	blood:
6	chr19:18162504..18164365-chr19:18167164..18169094,2	MCF-7	breast:
7	chr19:18173990..18174805-chr19:18278703..18279468,3	K562	blood:
8	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
9	chr19:18117511..18118459-chr19:18170615..18171118,2	MCF-7	breast:
10	chr19:18048789..18049868-chr19:18168630..18169412,4	K562	blood:
11	chr19:18116444..18119992-chr19:18166897..18169714,4	K562	blood:
12	chr19:18123288..18126278-chr19:18168683..18170920,3	K562	blood:
13	chr19:18118499..18119082-chr19:18168902..18169511,2	K562	blood:
14	chr19:18117457..18120181-chr19:18166897..18171800,6	K562	blood:
15	chr19:18112057..18114100-chr19:18169438..18171511,2	MCF-7	breast:
16	chr19:18117507..18118415-chr19:18168554..18169803,7	MCF-7	breast:
17	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
18	chr19:18174502..18178222-chr19:18262412..18264976,3	K562	blood:
19	chr19:18110500..18112488-chr19:18174652..18177496,3	MCF-7	breast:
20	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
21	chr19:18112125..18114440-chr19:18166210..18169011,2	K562	blood:
22	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
23	chr19:18167851..18170563-chr19:18548504..18551321,2	K562	blood:
24	chr19:18117512..18118471-chr19:18168887..18169895,16	K562	blood:
25	chr19:17980924..17981724-chr19:18168905..18169800,4	K562	blood:
26	chr19:18110512..18113596-chr19:18166649..18169173,4	MCF-7	breast:
27	chr19:18108637..18109581-chr19:18168824..18169425,2	K562	blood:
28	chr19:18171367..18174454-chr19:18284388..18286082,3	K562	blood:
29	chr19:18175810..18177346-chr19:18219359..18221194,2	MCF-7	breast:
30	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
31	chr19:18129262..18132278-chr19:18167782..18169896,3	K562	blood:
32	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
33	chr19:18172332..18174295-chr19:18269343..18271118,2	K562	blood:
34	chr19:18117408..18118699-chr19:18168880..18170084,19	MCF-7	breast:
35	chr19:18164213..18165777-chr19:18168109..18169737,2	K562	blood:
36	chr19:18116206..18122665-chr19:18167802..18171424,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105655	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000216490	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000269145	chromatin interactions

Extended variants
information (count: 618 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs382410	chr19:18168674-18168675	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189804676	chr19:18168676-18168677	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs568658887	chr19:18168681-18168682	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs537576577	chr19:18168694-18168695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs557469084	chr19:18168731-18168732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs570897209	chr19:18168736-18168737	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs539466021	chr19:18168768-18168769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs10412764	chr19:18168867-18168868	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs7253479	chr19:18168875-18168876	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs540926068	chr19:18168884-18168885	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs71336661	chr19:18168893-18168894	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs554386191	chr19:18168912-18168913	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574279755	chr19:18168953-18168954	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs567882836	chr19:18168960-18168961	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs181427086	chr19:18168993-18168994	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs563250880	chr19:18169014-18169015	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs536623083	chr19:18169055-18169056	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs373473416	chr19:18169067-18169068	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs540262629	chr19:18169225-18169226	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs17879845	chr19:18169245-18169246	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs17883767	chr19:18169266-18169267	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs445521	chr19:18169314-18169315	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs528854906	chr19:18169327-18169328	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150439621	chr19:18169339-18169340	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs568699311	chr19:18169347-18169348	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs59136695	chr19:18169355-18169356	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533777305	chr19:18169403-18169404	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs531150560	chr19:18169425-18169426	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs5827394	chr19:18169443-18169444	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373408259	chr19:18169444-18169445	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs371795700	chr19:18169445-18169446	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs17885963	chr19:18169449-18169450	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs60209067	chr19:18169450-18169451	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs534637248	chr19:18169451-18169452	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs574365805	chr19:18169488-18169489	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs543220140	chr19:18169534-18169535	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs557068304	chr19:18169546-18169547	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs576910290	chr19:18169557-18169558	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs545871764	chr19:18169617-18169618	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10421168	chr19:18169655-18169656	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368583251	chr19:18169662-18169663	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs55672041	chr19:18169692-18169693	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs541817407	chr19:18169714-18169715	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs17878364	chr19:18169781-18169782	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs138204127	chr19:18169783-18169784	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs531189197	chr19:18169786-18169787	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376275634	chr19:18169891-18169892	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs564700423	chr19:18169905-18169906	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs112520324	chr19:18169952-18169953	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs547058096	chr19:18169961-18169962	Genic enhancers Enhancers Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18156200-18169000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:18162000-18168800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr19:18162000-18169000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:18162200-18169000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:18163000-18169000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr19:18163000-18169000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:18163000-18169000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr19:18163000-18169000	Weak transcription	Osteobl	bone
9	chr19:18163000-18169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:18163400-18168800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:18164600-18169000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:18164800-18168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:18164800-18168800	Weak transcription	Thymus	Thymus
14	chr19:18164800-18168800	Weak transcription	K562	blood
15	chr19:18165000-18168800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr19:18165200-18168800	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:18167000-18169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:18168200-18169000	Weak transcription	Right Atrium	heart
19	chr19:18168400-18168800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:18168400-18168800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:18168400-18168800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr19:18168400-18169000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr19:18168400-18169000	Enhancers	Primary B cells from peripheral blood	blood
24	chr19:18168400-18169000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:18168400-18169000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:18168400-18169000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr19:18168400-18169000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:18168400-18169000	Enhancers	Brain Anterior Caudate	brain
29	chr19:18168400-18169000	Enhancers	Brain Cingulate Gyrus	brain
30	chr19:18168400-18169000	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr19:18168400-18169000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr19:18168400-18169000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr19:18168400-18169000	Enhancers	Fetal Thymus	thymus
34	chr19:18168400-18169000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr19:18168400-18169000	Enhancers	Right Ventricle	heart
36	chr19:18168400-18169000	Enhancers	Dnd41	blood
37	chr19:18168400-18169200	Flanking Active TSS	Brain Substantia Nigra	brain
38	chr19:18168400-18169200	Enhancers	Stomach Smooth Muscle	stomach
39	chr19:18168400-18169600	Enhancers	Esophagus	oesophagus
40	chr19:18168400-18169600	Enhancers	Gastric	stomach
41	chr19:18168400-18169600	Enhancers	Spleen	Spleen
42	chr19:18168400-18169800	Enhancers	Liver	Liver
43	chr19:18168400-18169800	Enhancers	Placenta	Placenta
44	chr19:18168400-18169800	Enhancers	GM12878-XiMat	blood
45	chr19:18168600-18168800	Enhancers	Adipose Nuclei	Adipose
46	chr19:18168600-18168800	Enhancers	Duodenum Mucosa	Duodenum
47	chr19:18168600-18168800	Enhancers	Hela-S3	cervix
48	chr19:18168600-18168800	Enhancers	HepG2	liver
49	chr19:18168600-18169000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr19:18168600-18169000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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