Variant report

Variant	esv1793356
Chromosome Location	chr3:156079516-156093505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156089108..156092383-chr3:156093518..156096511,3	K562	blood:
2	chr3:156085716..156088226-chr3:156095271..156097532,2	MCF-7	breast:
3	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:
4	chr3:156090883..156092603-chr3:156093278..156096049,2	K562	blood:

Extended variants
information (count: 465 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9859443	chr3:156079516-156079517	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373481859	chr3:156079518-156079519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554191195	chr3:156079524-156079525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566103287	chr3:156079553-156079554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138427097	chr3:156079566-156079567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76506551	chr3:156079646-156079647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111510038	chr3:156079694-156079695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573716146	chr3:156079742-156079743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150699371	chr3:156079752-156079753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139967702	chr3:156079770-156079771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564002675	chr3:156079803-156079804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80032647	chr3:156079805-156079806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7634841	chr3:156079806-156079807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs75495649	chr3:156079830-156079831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542912175	chr3:156079840-156079841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561641600	chr3:156079844-156079845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531783332	chr3:156079845-156079846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550374961	chr3:156079850-156079851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115791863	chr3:156079859-156079860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181279963	chr3:156079863-156079864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs59369550	chr3:156079959-156079960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12107383	chr3:156079961-156079962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs189576276	chr3:156079991-156079992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149782172	chr3:156079994-156079995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548974091	chr3:156080031-156080032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147458749	chr3:156080032-156080033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112807472	chr3:156080097-156080098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537778109	chr3:156080171-156080172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115885970	chr3:156080181-156080182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1375929	chr3:156080211-156080212	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs76114582	chr3:156080274-156080275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376159951	chr3:156080291-156080292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113065557	chr3:156080293-156080294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1375928	chr3:156080301-156080302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564709002	chr3:156080318-156080319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553835380	chr3:156080373-156080374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78889020	chr3:156080392-156080393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571131993	chr3:156080395-156080396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527912740	chr3:156080459-156080460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114442136	chr3:156080482-156080483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535963404	chr3:156080492-156080493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576792253	chr3:156080501-156080502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544166097	chr3:156080522-156080523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150961235	chr3:156080571-156080572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73873333	chr3:156080628-156080629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs532754037	chr3:156080629-156080630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527350344	chr3:156080641-156080642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374083468	chr3:156080699-156080700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547874552	chr3:156080711-156080712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547965196	chr3:156080717-156080718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156076400-156082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:156076400-156084000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:156076400-156091600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:156076600-156083000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:156076600-156083200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:156077400-156086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:156079000-156082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:156079200-156082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:156079200-156083400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:156079200-156083400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:156082800-156084000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr3:156082800-156086200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:156082800-156086400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr3:156082800-156086600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:156083000-156084800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:156083000-156085000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr3:156083200-156086200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:156083400-156083600	Enhancers	Fetal Brain Male	brain
19	chr3:156083400-156086600	Enhancers	H1 Cell Line	embryonic stem cell
20	chr3:156083400-156086600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr3:156083800-156085400	Weak transcription	Fetal Brain Male	brain
22	chr3:156083800-156090200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:156084000-156084400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr3:156084000-156084800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:156084400-156084600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr3:156084600-156090200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr3:156084800-156085200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:156084800-156085200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:156085000-156085400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr3:156085200-156086200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr3:156085200-156086800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:156085400-156085600	Enhancers	Fetal Brain Male	brain
33	chr3:156085400-156086400	Enhancers	Fetal Stomach	stomach
34	chr3:156085400-156086800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr3:156085600-156087600	Weak transcription	Fetal Brain Male	brain
36	chr3:156086000-156086600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr3:156086000-156086600	Bivalent Enhancer	GM12878-XiMat	blood
38	chr3:156086200-156086400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr3:156086200-156090000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:156086200-156090000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr3:156086200-156090200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:156086400-156087200	Weak transcription	Fetal Stomach	stomach
43	chr3:156086400-156090200	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:156086600-156089800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:156086600-156090000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:156086600-156090200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:156086800-156090200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr3:156086800-156090200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr3:156087000-156088000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr3:156087200-156087800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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