Variant report

Variant	nsv1011988
Chromosome Location	chr3:155070152-155089985
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:155074075..155074622-chr3:155419261..155420274,3	K562	blood:
2	chr18:64948798..64949652-chr3:155070443..155071034,2	MCF-7	breast:
3	chr3:155076882..155078450-chr3:155086803..155088719,2	K562	blood:
4	chr3:155070467..155071395-chr3:155419423..155420352,4	K562	blood:
5	chr3:155083019..155084599-chr3:155087307..155088949,2	MCF-7	breast:
6	chr3:155072085..155073011-chr3:155419476..155420067,2	MCF-7	breast:
7	chr3:155074208..155074956-chr3:155419567..155420189,2	MCF-7	breast:
8	chr3:155083019..155084599-chr3:155087307..155088949,2	MCF-7	breast:
9	chr3:155076882..155078450-chr3:155086803..155088719,2	K562	blood:
10	chr3:155070527..155071479-chr3:155419274..155420293,4	MCF-7	breast:
11	chr3:155070862..155073357-chr3:155073807..155076267,2	K562	blood:
12	chr3:155070862..155073357-chr3:155073807..155076267,2	K562	blood:
13	chr3:155075914..155077862-chr3:155419961..155422752,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000114805	chromatin interactions

Extended variants
information (count: 695 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:695 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572838763	chr3:155070432-155070433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs6440974	chr3:155070465-155070466	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs140141119	chr3:155070501-155070502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6440975	chr3:155070591-155070592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188848574	chr3:155070596-155070597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35189564	chr3:155070612-155070613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543972401	chr3:155070647-155070648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145355997	chr3:155070670-155070671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376395389	chr3:155070704-155070705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544458757	chr3:155070747-155070748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533352676	chr3:155070775-155070776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552037784	chr3:155070781-155070782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532421058	chr3:155072243-155072244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547480794	chr3:155072248-155072249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530771500	chr3:155072273-155072274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140375358	chr3:155072281-155072282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186027655	chr3:155072310-155072311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527466144	chr3:155072338-155072339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549188332	chr3:155072355-155072356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150302290	chr3:155072358-155072359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538158896	chr3:155072386-155072387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137933650	chr3:155072410-155072411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571225905	chr3:155072439-155072440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538685483	chr3:155072454-155072455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78144402	chr3:155072494-155072495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572206741	chr3:155072511-155072512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550314603	chr3:155072587-155072588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543224500	chr3:155072591-155072592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555168920	chr3:155072650-155072651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143100473	chr3:155072652-155072653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544096322	chr3:155072665-155072666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565484673	chr3:155072694-155072695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576814952	chr3:155072738-155072739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541059190	chr3:155072798-155072799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567577164	chr3:155072801-155072802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559398279	chr3:155072846-155072847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530155697	chr3:155072868-155072869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377105220	chr3:155072871-155072872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548869861	chr3:155072872-155072873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191175644	chr3:155072920-155072921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115848654	chr3:155072931-155072932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531460257	chr3:155072945-155072946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547791630	chr3:155072974-155072975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113890608	chr3:155072976-155072977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182016341	chr3:155072982-155072983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571610691	chr3:155072989-155072990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538624557	chr3:155073004-155073005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138719874	chr3:155073038-155073039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565754795	chr3:155073039-155073040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3884642	chr3:155073133-155073134	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

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
Breast cancer	21364760	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
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155070400-155070800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:155070400-155070800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr3:155070600-155070800	Enhancers	Brain Angular Gyrus	brain
4	chr3:155072200-155073200	Enhancers	Liver	Liver
5	chr3:155072200-155073200	Enhancers	HepG2	liver
6	chr3:155072400-155073000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:155072400-155073000	Enhancers	Fetal Intestine Small	intestine
8	chr3:155072400-155073000	Enhancers	HMEC	breast
9	chr3:155072600-155073200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:155073000-155073800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:155073200-155074200	Weak transcription	HepG2	liver
12	chr3:155073200-155081400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:155073800-155074000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:155074200-155074400	Enhancers	HepG2	liver
15	chr3:155074200-155075200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:155074200-155076200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:155074400-155075800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr3:155074400-155075800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr3:155074400-155076000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:155074600-155074800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr3:155074600-155074800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:155074600-155075000	Enhancers	Brain Cingulate Gyrus	brain
23	chr3:155074600-155075200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:155074600-155075800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr3:155074600-155075800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr3:155074600-155075800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr3:155074600-155076000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr3:155074600-155076000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:155075000-155075200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:155075000-155075800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:155075200-155079200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:155075200-155079400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:155075200-155080800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:155075600-155075800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr3:155076000-155078000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:155077200-155078600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr3:155077200-155079000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
38	chr3:155077600-155078000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr3:155077600-155078200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:155077600-155079800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
41	chr3:155077800-155078800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:155077800-155080000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr3:155078000-155078600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr3:155078400-155078600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr3:155078600-155078800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
46	chr3:155078600-155079800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr3:155078800-155079800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr3:155079000-155080000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr3:155079200-155079800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr3:155079200-155079800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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