Variant report

Variant	esv3461206
Chromosome Location	chr3:156090258-156095656
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 181 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:181 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184235367	chr3:156090274-156090275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146765614	chr3:156090278-156090279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189350796	chr3:156090310-156090311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139398571	chr3:156090319-156090320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569632352	chr3:156090321-156090322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116267975	chr3:156090351-156090352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548444136	chr3:156090391-156090392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115253067	chr3:156090461-156090462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376985126	chr3:156090469-156090470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528858784	chr3:156090492-156090493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114567570	chr3:156090506-156090507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144012999	chr3:156090514-156090515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574739477	chr3:156090520-156090521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56264609	chr3:156090556-156090557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs144898951	chr3:156090565-156090566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116113226	chr3:156090574-156090575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180945899	chr3:156090650-156090651	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564538115	chr3:156090655-156090656	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200527643	chr3:156090687-156090688	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149024529	chr3:156090688-156090689	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186286684	chr3:156090701-156090702	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559540036	chr3:156090755-156090756	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529922704	chr3:156090758-156090759	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548274516	chr3:156090774-156090775	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563396760	chr3:156090779-156090780	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530661599	chr3:156090780-156090781	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147945813	chr3:156090820-156090821	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs371498752	chr3:156090842-156090843	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs567062054	chr3:156090849-156090850	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534186850	chr3:156090861-156090862	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs11719267	chr3:156090903-156090904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs551873373	chr3:156090922-156090923	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs189492592	chr3:156091022-156091023	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs552472525	chr3:156091043-156091044	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs13433768	chr3:156091137-156091138	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs374957319	chr3:156091138-156091139	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs111987829	chr3:156091144-156091145	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181598865	chr3:156091158-156091159	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547275955	chr3:156091161-156091162	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs568278643	chr3:156091195-156091196	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs186212711	chr3:156091206-156091207	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369372011	chr3:156091226-156091227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs191125129	chr3:156091260-156091261	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs3772249	chr3:156091310-156091311	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539960331	chr3:156091326-156091327	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs551440219	chr3:156091434-156091435	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs557860951	chr3:156091452-156091453	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs938417	chr3:156091499-156091500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs735572	chr3:156091512-156091513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553320638	chr3:156091578-156091579	Enhancers Weak transcription Flanking Active TSS	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:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156076400-156091600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:156088600-156096000	Weak transcription	Placenta	Placenta
3	chr3:156088800-156090400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:156089600-156091200	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:156089600-156091600	Enhancers	Brain Hippocampus Middle	brain
6	chr3:156089600-156092600	Enhancers	HSMMtube	muscle
7	chr3:156089800-156091600	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:156089800-156092400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr3:156090000-156090600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:156090000-156092200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:156090000-156092200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr3:156090200-156090800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:156090200-156091600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:156090200-156091600	Enhancers	Brain Substantia Nigra	brain
15	chr3:156090200-156091800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr3:156090200-156091800	Enhancers	Brain Cingulate Gyrus	brain
17	chr3:156090200-156092000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:156090200-156092000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:156090200-156092200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr3:156090200-156092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:156090400-156090800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:156090600-156090800	Enhancers	Fetal Muscle Leg	muscle
23	chr3:156090600-156091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr3:156090600-156091200	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr3:156090600-156091800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:156090600-156091800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr3:156090800-156091200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:156090800-156094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:156090800-156100600	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:156091200-156092000	Enhancers	Fetal Kidney	kidney
31	chr3:156091200-156092600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr3:156091600-156091800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:156091600-156091800	Enhancers	Colon Smooth Muscle	Colon
34	chr3:156091800-156092600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:156091800-156092800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr3:156091800-156095000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr3:156092400-156101600	Weak transcription	Aorta	Aorta
38	chr3:156092800-156093000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:156094000-156094200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr3:156094200-156105000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:156094600-156094800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr3:156094600-156096000	Enhancers	Fetal Heart	heart
43	chr3:156094800-156097600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:156095000-156095400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:156095200-156095400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links