Variant report

Variant	nsv877696
Chromosome Location	chr3:159184569-159257961
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:159236194..159237893-chr3:159238621..159241336,2	MCF-7	breast:
2	chr3:159201183..159202025-chrX:115364745..115365424,2	MCF-7	breast:
3	chr3:159039820..159040863-chr3:159221480..159222566,6	MCF-7	breast:
4	chr19:49994734..49997018-chr3:159212166..159215119,2	MCF-7	breast:
5	chr3:159039842..159040819-chr3:159204071..159204932,5	MCF-7	breast:
6	chr3:159236194..159237893-chr3:159238621..159241336,2	MCF-7	breast:
7	chr3:159166123..159169041-chr3:159186144..159188668,2	MCF-7	breast:
8	chr3:159039840..159040891-chr3:159220505..159222231,11	MCF-7	breast:
9	chr3:158984649..158985591-chr3:159221787..159222339,3	MCF-7	breast:

No data

Extended variants
information (count: 1006 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1006 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7634185	chr3:159184569-159184570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540687873	chr3:159184732-159184733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561865306	chr3:159184762-159184763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529071406	chr3:159184766-159184767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146991343	chr3:159184774-159184775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185102896	chr3:159184815-159184816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545749795	chr3:159184826-159184827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143855099	chr3:159184869-159184870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370842946	chr3:159184950-159184951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533227153	chr3:159184954-159184955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146878126	chr3:159184961-159184962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566092147	chr3:159185033-159185034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562531512	chr3:159185063-159185064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189429630	chr3:159185099-159185100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527389163	chr3:159185110-159185111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73874527	chr3:159185137-159185138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568356919	chr3:159185156-159185157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552133884	chr3:159186818-159186819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112595413	chr3:159186935-159186936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527957078	chr3:159186953-159186954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182775502	chr3:159190006-159190007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541957005	chr3:159190040-159190041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186445590	chr3:159190042-159190043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530603351	chr3:159190087-159190088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141580350	chr3:159190167-159190168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147030296	chr3:159190168-159190169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs528359981	chr3:159190173-159190174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546627904	chr3:159190217-159190218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138951029	chr3:159190238-159190239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191036612	chr3:159190260-159190261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116966872	chr3:159190269-159190270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182932535	chr3:159190279-159190280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570262839	chr3:159190314-159190315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547609931	chr3:159190320-159190321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368825771	chr3:159190423-159190424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537224307	chr3:159190434-159190435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7639027	chr3:159190439-159190440	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142857515	chr3:159190451-159190452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143556455	chr3:159190455-159190456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs553382149	chr3:159190459-159190460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs370138929	chr3:159190496-159190497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574732452	chr3:159190510-159190511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542343391	chr3:159190512-159190513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532850279	chr3:159190533-159190534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568104852	chr3:159190536-159190537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563610933	chr3:159190548-159190549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531007204	chr3:159190550-159190551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568724654	chr3:159190575-159190576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187431465	chr3:159190601-159190602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377006122	chr3:159190610-159190611	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159182400-159185200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:159184400-159184600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:159186800-159187000	Enhancers	HSMM	muscle
4	chr3:159190000-159190200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:159190200-159190800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:159190400-159190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:159190400-159190800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:159190400-159197400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:159197400-159198600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:159197400-159198600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:159197400-159198600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:159197400-159198600	Enhancers	NHEK	skin
13	chr3:159197400-159199000	Enhancers	HMEC	breast
14	chr3:159198600-159198800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr3:159198600-159199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:159198600-159199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:159198600-159199800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr3:159198600-159199800	Weak transcription	NHEK	skin
19	chr3:159198800-159199800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr3:159198800-159200400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:159199000-159200000	Weak transcription	HMEC	breast
22	chr3:159199600-159200600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:159199600-159200800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:159199800-159200200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:159199800-159200400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:159199800-159200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:159199800-159200600	Enhancers	NHEK	skin
28	chr3:159200000-159200400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:159200000-159200600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:159200000-159200600	Enhancers	HMEC	breast
31	chr3:159200000-159201200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr3:159200000-159201200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:159200000-159201400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr3:159200200-159200800	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:159200200-159201200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:159200400-159200800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr3:159200400-159200800	Enhancers	H9 Cell Line	embryonic stem cell
38	chr3:159200400-159200800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr3:159200400-159201000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:159200400-159201200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr3:159200400-159201200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr3:159200400-159201200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:159200600-159201400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:159200800-159201000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr3:159200800-159202000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr3:159201000-159201200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr3:159201000-159202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr3:159202200-159202400	Enhancers	H9 Cell Line	embryonic stem cell
49	chr3:159202200-159202400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr3:159215200-159216200	Enhancers	Brain Germinal Matrix	brain

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