Variant report

Variant	esv18274
Chromosome Location	chr3:139923606-139924666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:139922220..139924561-chr3:139926417..139928588,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34558945	chr3:139923626-139923627	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs528146555	chr3:139923640-139923641	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs112570696	chr3:139923668-139923669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs9867592	chr3:139923703-139923704	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541537740	chr3:139923709-139923710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs556301205	chr3:139923710-139923711	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs188679438	chr3:139923726-139923727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs535583130	chr3:139923744-139923745	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192492743	chr3:139923752-139923753	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs182526421	chr3:139923786-139923787	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs546501207	chr3:139923812-139923813	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186482395	chr3:139923825-139923826	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs76440244	chr3:139923855-139923856	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72988127	chr3:139923943-139923944	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs562352829	chr3:139923970-139923971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373624176	chr3:139924017-139924018	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs560249049	chr3:139924046-139924047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574425938	chr3:139924061-139924062	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs4683811	chr3:139924092-139924093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs537863044	chr3:139924093-139924094	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114185957	chr3:139924118-139924119	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183866092	chr3:139924164-139924165	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs551976012	chr3:139924181-139924182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548630722	chr3:139924217-139924218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564008351	chr3:139924223-139924224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531520187	chr3:139924225-139924226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11718756	chr3:139924239-139924240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145012470	chr3:139924248-139924249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75968876	chr3:139924278-139924279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149073211	chr3:139924331-139924332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs74890643	chr3:139924381-139924382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372703509	chr3:139924404-139924405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115933221	chr3:139924412-139924413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11718844	chr3:139924453-139924454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200923291	chr3:139924460-139924461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs58835697	chr3:139924464-139924465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59611009	chr3:139924467-139924468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374441703	chr3:139924471-139924472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11718849	chr3:139924489-139924490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192864244	chr3:139924517-139924518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3792580	chr3:139924522-139924523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561478112	chr3:139924524-139924525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541502595	chr3:139924588-139924589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559788731	chr3:139924636-139924637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571827116	chr3:139924666-139924667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	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
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Ependymoma	20639864	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Cancer	20164919	CNVD
Ovarian cancer	17875760	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139921600-139923800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:139921600-139925600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:139921600-139926000	Enhancers	H1 Cell Line	embryonic stem cell
4	chr3:139921600-139926200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:139921800-139925400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:139922000-139926000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr3:139922400-139925400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr3:139922600-139924200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr3:139922800-139924000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:139923000-139923800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:139923200-139924000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr3:139923200-139926400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:139923400-139923800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr3:139923400-139924600	Weak transcription	Fetal Brain Female	brain
15	chr3:139923600-139925400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:139923800-139924800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:139923800-139925800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:139923800-139926000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:139924000-139925200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr3:139924000-139925200	Enhancers	Ovary	ovary
21	chr3:139924000-139926000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr3:139924200-139925600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr3:139924600-139924800	Enhancers	Fetal Brain Female	brain
24	chr3:139924600-139925200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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