Variant report

Variant	nsv978604
Chromosome Location	chr18:12075162-12076162
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35721258	chr18:12075206-12075207	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs61739730	chr18:12075240-12075241	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565816879	chr18:12075255-12075256	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535852376	chr18:12075256-12075257	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs61741917	chr18:12075261-12075262	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188099281	chr18:12075273-12075274	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs574649391	chr18:12075319-12075320	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs180940496	chr18:12075344-12075345	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs536920359	chr18:12075439-12075440	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147516020	chr18:12075489-12075490	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10853217	chr18:12075501-12075502	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs534859366	chr18:12075532-12075533	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553970403	chr18:12075534-12075535	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs56041314	chr18:12075555-12075556	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113405496	chr18:12075572-12075573	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs184603734	chr18:12075583-12075584	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs561230236	chr18:12075615-12075616	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149695518	chr18:12075684-12075685	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73947249	chr18:12075693-12075694	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370385924	chr18:12075699-12075700	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532597299	chr18:12075744-12075745	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73406595	chr18:12075747-12075748	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs559170036	chr18:12075748-12075749	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs189928567	chr18:12075778-12075779	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148428055	chr18:12075779-12075780	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs569264060	chr18:12075790-12075791	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs7239480	chr18:12075801-12075802	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs146418106	chr18:12075823-12075824	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs377493637	chr18:12075844-12075845	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113748741	chr18:12075851-12075852	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs113563053	chr18:12075879-12075880	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs61593305	chr18:12075904-12075905	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113100006	chr18:12075909-12075910	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs553165443	chr18:12075914-12075915	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574559844	chr18:12076025-12076026	Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs118131148	chr18:12076033-12076034	Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs181389022	chr18:12076051-12076052	Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs76470582	chr18:12076104-12076105	Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs543887853	chr18:12076139-12076140	Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs558967299	chr18:12076161-12076162	Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Autism	20531469	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12055600-12076400	Weak transcription	Right Atrium	heart
2	chr18:12066000-12076400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:12068600-12076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12072200-12076400	Weak transcription	HUVEC	blood vessel
5	chr18:12074600-12077000	Active TSS	Fetal Brain Female	brain
6	chr18:12075000-12075400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr18:12075400-12076600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:12076000-12076200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links