Variant report

Variant	nsv877697
Chromosome Location	chr3:159198139-159259124
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	chr3:159039842..159040819-chr3:159204071..159204932,5	MCF-7	breast:
2	chr3:159236194..159237893-chr3:159238621..159241336,2	MCF-7	breast:
3	chr19:49994734..49997018-chr3:159212166..159215119,2	MCF-7	breast:
4	chr3:159039820..159040863-chr3:159221480..159222566,6	MCF-7	breast:
5	chr3:158984649..158985591-chr3:159221787..159222339,3	MCF-7	breast:
6	chr3:159201183..159202025-chrX:115364745..115365424,2	MCF-7	breast:
7	chr3:159236194..159237893-chr3:159238621..159241336,2	MCF-7	breast:
8	chr3:159039840..159040891-chr3:159220505..159222231,11	MCF-7	breast:

No data

Extended variants
information (count: 760 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:760 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7614617	chr3:159198139-159198140	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183764959	chr3:159198178-159198179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536464869	chr3:159198197-159198198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188189906	chr3:159198228-159198229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139989563	chr3:159198233-159198234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538431771	chr3:159198274-159198275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543660670	chr3:159198283-159198284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558572765	chr3:159198335-159198336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs576816612	chr3:159198349-159198350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368441793	chr3:159198384-159198385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192933627	chr3:159198420-159198421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569375786	chr3:159198457-159198458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550796432	chr3:159198504-159198505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9865711	chr3:159198560-159198561	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145401980	chr3:159198586-159198587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs147692758	chr3:159198590-159198591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67390539	chr3:159198591-159198592	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs149149306	chr3:159198606-159198607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7617202	chr3:159198616-159198617	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs558291008	chr3:159198623-159198624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546545147	chr3:159198674-159198675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555465188	chr3:159198675-159198676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568075315	chr3:159198682-159198683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535490509	chr3:159198704-159198705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184709500	chr3:159198781-159198782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142265772	chr3:159198832-159198833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534733946	chr3:159198837-159198838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs151018199	chr3:159198864-159198865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558804391	chr3:159198866-159198867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577439534	chr3:159198867-159198868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144785631	chr3:159198885-159198886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553292171	chr3:159198893-159198894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7650011	chr3:159198921-159198922	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542342218	chr3:159198944-159198945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545262172	chr3:159198983-159198984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563517374	chr3:159199000-159199001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7617549	chr3:159199005-159199006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186973973	chr3:159199068-159199069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564392621	chr3:159199071-159199072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528351354	chr3:159199079-159199080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546285056	chr3:159199159-159199160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117400110	chr3:159199224-159199225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191363040	chr3:159199288-159199289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550251759	chr3:159199301-159199302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569948866	chr3:159199370-159199371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537271770	chr3:159199407-159199408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9815288	chr3:159199477-159199478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552319130	chr3:159199576-159199577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571068836	chr3:159199579-159199580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183665662	chr3:159199603-159199604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	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
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21509527	CNVD
Effusion lymphoma	18079361	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159197400-159198600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:159197400-159198600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:159197400-159198600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:159197400-159198600	Enhancers	NHEK	skin
5	chr3:159197400-159199000	Enhancers	HMEC	breast
6	chr3:159198600-159198800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:159198600-159199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:159198600-159199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:159198600-159199800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:159198600-159199800	Weak transcription	NHEK	skin
11	chr3:159198800-159199800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:159198800-159200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:159199000-159200000	Weak transcription	HMEC	breast
14	chr3:159199600-159200600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:159199600-159200800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:159199800-159200200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:159199800-159200400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:159199800-159200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:159199800-159200600	Enhancers	NHEK	skin
20	chr3:159200000-159200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr3:159200000-159200600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr3:159200000-159200600	Enhancers	HMEC	breast
23	chr3:159200000-159201200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr3:159200000-159201200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:159200000-159201400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr3:159200200-159200800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:159200200-159201200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr3:159200400-159200800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:159200400-159200800	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:159200400-159200800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:159200400-159201000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:159200400-159201200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr3:159200400-159201200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:159200400-159201200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:159200600-159201400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:159200800-159201000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:159200800-159202000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr3:159201000-159201200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr3:159201000-159202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr3:159202200-159202400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:159202200-159202400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:159215200-159216200	Enhancers	Brain Germinal Matrix	brain
43	chr3:159216200-159218000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:159216200-159218400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr3:159216600-159217400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:159216600-159217400	Enhancers	HMEC	breast
47	chr3:159216600-159217400	Enhancers	NH-A	brain
48	chr3:159216600-159217600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr3:159216600-159218200	Enhancers	NHEK	skin
50	chr3:159216800-159217200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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