Variant report

Variant	nsv911240
Chromosome Location	chr19:18176357-18181779
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18175914..18177605-chr19:18187041..18190225,3	K562	blood:
2	chr19:18110500..18112488-chr19:18174652..18177496,3	MCF-7	breast:
3	chr19:18175810..18177346-chr19:18219359..18221194,2	MCF-7	breast:
4	chr19:18179477..18182800-chr19:18183743..18186734,4	MCF-7	breast:
5	chr19:18175933..18177579-chr19:18191340..18193174,2	K562	blood:
6	chr19:18174502..18178222-chr19:18262412..18264976,3	K562	blood:
7	chr19:18175848..18177697-chr19:18184239..18186730,2	MCF-7	breast:
8	chr19:18174801..18178222-chr19:18262412..18264976,3	K562	blood:

No data

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

Extended variants
information (count: 259 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12460450	chr19:18176357-18176358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550798895	chr19:18176364-18176365	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs551898534	chr19:18176376-18176377	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs539574292	chr19:18176399-18176400	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs576621878	chr19:18176400-18176401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs147899565	chr19:18176458-18176459	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs566544564	chr19:18176483-18176484	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs149093444	chr19:18176499-18176500	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs555020699	chr19:18176568-18176569	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs535922446	chr19:18176585-18176586	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs17885432	chr19:18176586-18176587	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs544574053	chr19:18176603-18176604	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs148238049	chr19:18176609-18176610	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs577813801	chr19:18176629-18176630	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs577797070	chr19:18176634-18176635	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs545868369	chr19:18176641-18176642	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs540402687	chr19:18176662-18176663	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs77721313	chr19:18176678-18176679	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs560219006	chr19:18176721-18176722	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs573759270	chr19:18176752-18176753	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs57673786	chr19:18176810-18176811	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs187377388	chr19:18176820-18176821	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs199581643	chr19:18176852-18176853	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs77932846	chr19:18176853-18176854	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs112420698	chr19:18176855-18176856	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs76051228	chr19:18176869-18176870	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs562738099	chr19:18176907-18176908	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs369890842	chr19:18176921-18176922	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs530864429	chr19:18176937-18176938	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs12979598	chr19:18176974-18176975	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs550586065	chr19:18177002-18177003	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs191783448	chr19:18177003-18177004	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs533183383	chr19:18177004-18177005	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs546770427	chr19:18177020-18177021	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs140399595	chr19:18177114-18177115	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs426906	chr19:18177122-18177123	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs370155553	chr19:18177161-18177162	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs184732640	chr19:18177163-18177164	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs418995	chr19:18177182-18177183	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562581376	chr19:18177194-18177195	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs370964926	chr19:18177206-18177207	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs577872814	chr19:18177262-18177263	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs534137851	chr19:18177302-18177303	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs201996603	chr19:18177320-18177321	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs553939047	chr19:18177330-18177331	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs574126894	chr19:18177347-18177348	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs542734526	chr19:18177374-18177375	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs369576406	chr19:18177378-18177379	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs576374797	chr19:18177379-18177380	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs199661046	chr19:18177384-18177385	Weak transcription Strong transcription	Chromatin interactive region	4 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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:71 , 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	chr19:18169600-18185600	Weak transcription	Esophagus	oesophagus
3	chr19:18169600-18195000	Weak transcription	Gastric	stomach
4	chr19:18169800-18178800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr19:18169800-18179600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr19:18169800-18180000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr19:18169800-18180200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr19:18169800-18180200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr19:18169800-18181000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:18169800-18181000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr19:18169800-18183000	Weak transcription	Thymus	Thymus
12	chr19:18169800-18183800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:18169800-18183800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr19:18169800-18185000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr19:18170000-18178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:18170000-18184000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr19:18170200-18181000	Weak transcription	Fetal Thymus	thymus
18	chr19:18170200-18184200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr19:18170200-18197000	Weak transcription	Primary B cells from cord blood	blood
20	chr19:18170400-18180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:18170400-18184000	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr19:18171000-18183000	Weak transcription	GM12878-XiMat	blood
23	chr19:18171800-18180000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:18173200-18179200	Weak transcription	Spleen	Spleen
25	chr19:18173200-18181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18174200-18177800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr19:18174200-18180800	Strong transcription	Primary T cells from cord blood	blood
28	chr19:18174400-18176400	Enhancers	K562	blood
29	chr19:18175600-18176400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:18175800-18178400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr19:18176400-18177200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:18177200-18177600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr19:18177400-18186400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr19:18177600-18179800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:18177800-18179800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr19:18178400-18179800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:18178400-18180800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr19:18178800-18179600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr19:18179200-18179400	ZNF genes & repeats	Spleen	Spleen
40	chr19:18179400-18181400	Strong transcription	Spleen	Spleen
41	chr19:18179600-18180200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr19:18179600-18180400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:18179600-18194200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr19:18179800-18183800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr19:18179800-18184000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr19:18179800-18184000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:18180000-18180200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:18180000-18183600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:18180000-18185200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr19:18180200-18180800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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