Variant report

Variant	nsv911239
Chromosome Location	chr19:18173603-18191059
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18183643..18186690-chr19:18187876..18191058,3	K562	blood:
2	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
3	chr19:18173990..18174805-chr19:18278703..18279468,3	K562	blood:
4	chr19:18175810..18177346-chr19:18219359..18221194,2	MCF-7	breast:
5	chr19:18184421..18186715-chr19:18208443..18210278,2	K562	blood:
6	chr19:18174502..18178222-chr19:18262412..18264976,3	K562	blood:
7	chr19:18110500..18112488-chr19:18174652..18177496,3	MCF-7	breast:
8	chr19:18174801..18178222-chr19:18262412..18264976,3	K562	blood:
9	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
10	chr19:18185308..18187156-chr19:18263394..18266366,3	MCF-7	breast:
11	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
12	chr19:18171367..18174454-chr19:18284388..18286082,3	K562	blood:
13	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
14	chr19:18190056..18192920-chr19:18208417..18210205,2	K562	blood:
15	chr19:18185895..18188337-chr19:18214059..18216560,2	K562	blood:
16	chr19:18052586..18055033-chr19:18189740..18191499,2	K562	blood:
17	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
18	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
19	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
20	chr19:18183643..18186690-chr19:18187876..18191058,3	K562	blood:
21	chr19:18172332..18174295-chr19:18269343..18271118,2	K562	blood:
22	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
23	chr19:18117843..18118390-chr19:18184493..18185248,2	MCF-7	breast:
24	chr19:18188813..18191087-chr19:18191610..18194402,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269145	chromatin interactions
ENSG00000268173	chromatin interactions
ENSG00000099308	chromatin interactions
ENSG00000105643	chromatin interactions
ENSG00000216490	chromatin interactions
ENSG00000105647	chromatin interactions
ENSG00000096996	chromatin interactions

Extended variants
information (count: 898 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:898 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	rs570254836	chr19:18173628-18173629	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184504505	chr19:18173642-18173643	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs147659999	chr19:18173663-18173664	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs115113772	chr19:18173757-18173758	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535160958	chr19:18173790-18173791	Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs66462934	chr19:18173809-18173810	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs574663628	chr19:18173814-18173815	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs386807471	chr19:18173815-18173816	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs201316927	chr19:18173818-18173819	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs72009865	chr19:18173874-18173875	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs67262412	chr19:18173889-18173890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs71164362	chr19:18173914-18173915	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs17885273	chr19:18173923-18173924	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs59678257	chr19:18173926-18173927	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555118324	chr19:18173927-18173928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147620245	chr19:18173941-18173942	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142450148	chr19:18173975-18173976	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56821042	chr19:18174041-18174042	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs576299700	chr19:18174064-18174065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs571371352	chr19:18174082-18174083	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs545285079	chr19:18174092-18174093	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs558358805	chr19:18174105-18174106	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs372296404	chr19:18174137-18174138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540793114	chr19:18174235-18174236	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182580831	chr19:18174242-18174243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146467658	chr19:18174248-18174249	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs533950511	chr19:18174255-18174256	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs75242136	chr19:18174322-18174323	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs17878773	chr19:18174344-18174345	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368733941	chr19:18174347-18174348	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs187144088	chr19:18174376-18174377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12976908	chr19:18174377-18174378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74180862	chr19:18174384-18174385	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190619891	chr19:18174388-18174389	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs138157982	chr19:18174401-18174402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565371262	chr19:18174405-18174406	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200989513	chr19:18174415-18174416	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs17882792	chr19:18174418-18174419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs181613097	chr19:18174423-18174424	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537545145	chr19:18174429-18174430	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185734591	chr19:18174446-18174447	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141730523	chr19:18174449-18174450	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs538590715	chr19:18174469-18174470	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368043849	chr19:18174484-18174485	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs558442642	chr19:18174525-18174526	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs17886410	chr19:18174553-18174554	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs138796805	chr19:18174634-18174635	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs554300618	chr19:18174641-18174642	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs370204086	chr19:18174645-18174646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18169200-18190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18169600-18185600	Weak transcription	Esophagus	oesophagus
3	chr19:18169600-18195000	Weak transcription	Gastric	stomach
4	chr19:18169800-18174400	Weak transcription	K562	blood
5	chr19:18169800-18175800	Weak transcription	Hela-S3	cervix
6	chr19:18169800-18178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr19:18169800-18179600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr19:18169800-18180000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr19:18169800-18180200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr19:18169800-18180200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr19:18169800-18181000	Weak transcription	Primary B cells from peripheral blood	blood
12	chr19:18169800-18181000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr19:18169800-18183000	Weak transcription	Thymus	Thymus
14	chr19:18169800-18183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:18169800-18183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:18169800-18185000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr19:18170000-18178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr19:18170000-18184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:18170200-18181000	Weak transcription	Fetal Thymus	thymus
20	chr19:18170200-18184200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood
22	chr19:18170400-18180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:18170400-18184000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr19:18171000-18183000	Weak transcription	GM12878-XiMat	blood
25	chr19:18171800-18180000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:18172000-18175600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr19:18172000-18175800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr19:18172200-18174200	Weak transcription	Primary T cells from cord blood	blood
29	chr19:18172800-18174400	Enhancers	Brain Substantia Nigra	brain
30	chr19:18172800-18174600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr19:18173000-18173800	Enhancers	Brain Anterior Caudate	brain
32	chr19:18173000-18174600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:18173200-18173800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr19:18173200-18179200	Weak transcription	Spleen	Spleen
35	chr19:18173200-18181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:18173400-18173800	Enhancers	Brain Cingulate Gyrus	brain
37	chr19:18173600-18174000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr19:18173600-18174200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:18174200-18177800	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr19:18174200-18180800	Strong transcription	Primary T cells from cord blood	blood
41	chr19:18174400-18176400	Enhancers	K562	blood
42	chr19:18175600-18176200	Enhancers	Placenta	Placenta
43	chr19:18175600-18176400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr19:18175800-18176000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:18175800-18176000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:18175800-18176000	Flanking Bivalent TSS/Enh	HepG2	liver
47	chr19:18175800-18176200	Enhancers	Hela-S3	cervix
48	chr19:18175800-18178400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:18176400-18177200	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr19:18177200-18177600	Strong transcription	Primary T helper cells PMA-I stimulated	--

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