Variant report

Variant	nsv578743
Chromosome Location	chr19:18172841-18179973
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18171367..18174454-chr19:18284388..18286082,3	K562	blood:
2	chr19:18173990..18174805-chr19:18278703..18279468,3	K562	blood:
3	chr19:18172332..18174295-chr19:18269343..18271118,2	K562	blood:
4	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
5	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
6	chr19:18174502..18178222-chr19:18262412..18264976,3	K562	blood:
7	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
8	chr19:18110500..18112488-chr19:18174652..18177496,3	MCF-7	breast:
9	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
10	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
11	chr19:18175810..18177346-chr19:18219359..18221194,2	MCF-7	breast:
12	chr19:18174801..18178222-chr19:18262412..18264976,3	K562	blood:

No data

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

Extended variants
information (count: 333 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17878533	chr19:18172841-18172842	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs372966671	chr19:18172842-18172843	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376198209	chr19:18172847-18172848	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs562739333	chr19:18172855-18172856	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531424040	chr19:18172886-18172887	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs148100486	chr19:18172905-18172906	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369867160	chr19:18172964-18172965	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376261931	chr19:18172992-18172993	Enhancers Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs551527696	chr19:18173004-18173005	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs369861364	chr19:18173045-18173046	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs267605360	chr19:18173050-18173051	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372833507	chr19:18173082-18173083	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527345458	chr19:18173083-18173084	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530116677	chr19:18173093-18173094	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565798417	chr19:18173097-18173098	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs547030215	chr19:18173116-18173117	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377244873	chr19:18173118-18173119	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145859728	chr19:18173171-18173172	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550190213	chr19:18173191-18173192	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369644168	chr19:18173230-18173231	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538881173	chr19:18173240-18173241	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190399909	chr19:18173298-18173299	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs566185333	chr19:18173312-18173313	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574661840	chr19:18173332-18173333	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs17886920	chr19:18173355-18173356	Weak transcription Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373150093	chr19:18173442-18173443	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184274237	chr19:18173454-18173455	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188757913	chr19:18173457-18173458	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs17878350	chr19:18173472-18173473	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs576240999	chr19:18173473-18173474	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs371141026	chr19:18173509-18173510	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs17878594	chr19:18173513-18173514	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs139448596	chr19:18173519-18173520	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369003934	chr19:18173524-18173525	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs377444940	chr19:18173529-18173530	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370770052	chr19:18173536-18173537	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17879124	chr19:18173558-18173559	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs17884758	chr19:18173590-18173591	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs397844165	chr19:18173597-18173598	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs143643392	chr19:18173599-18173600	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs372889	chr19:18173603-18173604	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs570254836	chr19:18173628-18173629	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184504505	chr19:18173642-18173643	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147659999	chr19:18173663-18173664	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs115113772	chr19:18173757-18173758	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535160958	chr19:18173790-18173791	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs66462934	chr19:18173809-18173810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574663628	chr19:18173814-18173815	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs386807471	chr19:18173815-18173816	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs201316927	chr19:18173818-18173819	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18169200-18190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18169600-18173000	Weak transcription	Lung	lung
3	chr19:18169600-18185600	Weak transcription	Esophagus	oesophagus
4	chr19:18169600-18195000	Weak transcription	Gastric	stomach
5	chr19:18169800-18173000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:18169800-18173000	Weak transcription	Brain Anterior Caudate	brain
7	chr19:18169800-18173600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:18169800-18174400	Weak transcription	K562	blood
9	chr19:18169800-18175800	Weak transcription	Hela-S3	cervix
10	chr19:18169800-18178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:18169800-18179600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:18169800-18180000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr19:18169800-18180200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr19:18169800-18180200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:18169800-18181000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr19:18169800-18181000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:18169800-18183000	Weak transcription	Thymus	Thymus
18	chr19:18169800-18183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr19:18169800-18183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:18169800-18185000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr19:18170000-18178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:18170000-18184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:18170200-18173600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:18170200-18181000	Weak transcription	Fetal Thymus	thymus
25	chr19:18170200-18184200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood
27	chr19:18170400-18180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:18170400-18184000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr19:18170600-18173200	Strong transcription	Spleen	Spleen
30	chr19:18171000-18183000	Weak transcription	GM12878-XiMat	blood
31	chr19:18171800-18180000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:18172000-18175600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:18172000-18175800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr19:18172200-18174200	Weak transcription	Primary T cells from cord blood	blood
35	chr19:18172800-18173000	Enhancers	Brain Cingulate Gyrus	brain
36	chr19:18172800-18173200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:18172800-18173400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr19:18172800-18173400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:18172800-18173600	Enhancers	Brain Angular Gyrus	brain
40	chr19:18172800-18174400	Enhancers	Brain Substantia Nigra	brain
41	chr19:18172800-18174600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr19:18173000-18173200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:18173000-18173200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:18173000-18173200	ZNF genes & repeats	Lung	lung
45	chr19:18173000-18173400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:18173000-18173800	Enhancers	Brain Anterior Caudate	brain
47	chr19:18173000-18174600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:18173200-18173800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:18173200-18179200	Weak transcription	Spleen	Spleen
50	chr19:18173200-18181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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