Variant report

Variant	nsv906952
Chromosome Location	chr16:76944357-77155717
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:17)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76699528..76700343-chr16:77076632..77077627,2	MCF-7	breast:
2	chr16:76887896..76888842-chr16:77076469..77077719,11	MCF-7	breast:
3	chr16:77059610..77062396-chr16:77260233..77262257,2	K562	blood:
4	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
5	chr16:77129914..77131450-chr16:77133881..77136315,2	K562	blood:
6	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:
7	chr16:77076688..77077729-chr16:77203577..77204202,3	MCF-7	breast:
8	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
9	chr16:77117943..77120097-chr16:77124904..77127006,2	MCF-7	breast:
10	chr16:76856883..76857419-chr16:77076804..77077643,2	MCF-7	breast:
11	chr16:77129914..77131450-chr16:77133881..77136315,2	K562	blood:
12	chr16:77117943..77120097-chr16:77124904..77127006,2	MCF-7	breast:
13	chr16:77044641..77046687-chr16:77049304..77051697,2	K562	blood:
14	chr16:77078662..77079429-chr16:77203303..77204211,3	MCF-7	breast:
15	chr16:77092274..77095002-chr16:77096388..77098456,2	MCF-7	breast:
16	chr16:76972133..76974493-chr16:76974679..76976840,2	MCF-7	breast:
17	chr16:76886880..76887748-chr16:77077328..77078325,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-58C22.1.1-4	chr16:76946252-76946305	ENSG00000259995.1
2	lnc-ADAMTS18-2	chr16:77042061-77042204	XLOC_012014
3	lnc-MON1B-2	chr16:77118307-77118365	NONHSAT143790
4	lnc-RP11-58C22.1.1-4	chr16:76961793-76962066	ENSG00000259995.1
5	lnc-ADAMTS18-2	chr16:77028205-77028433	XLOC_012014

No data

Variant related genes	Relation type
QARS	miRNA target sites
PYGO2	miRNA target sites

Extended variants
information (count: 5723 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:5723 , 50 per page) page: 1 2 3 4 5 6 7 ... 115

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1390907	chr16:76944357-76944358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76064486	chr16:76944419-76944420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374564125	chr16:76944427-76944428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188390133	chr16:76944441-76944442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557200976	chr16:76944442-76944443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138677133	chr16:76944445-76944446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542924197	chr16:76944463-76944464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191670772	chr16:76944472-76944473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540065979	chr16:76944513-76944514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533934862	chr16:76944520-76944521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79880303	chr16:76944557-76944558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541499846	chr16:76944599-76944600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568975519	chr16:76944612-76944613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11864880	chr16:76944616-76944617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182860522	chr16:76944642-76944643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187948262	chr16:76944659-76944660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535945591	chr16:76944709-76944710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs8054710	chr16:76944751-76944752	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs149436410	chr16:76944812-76944813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77417224	chr16:76944827-76944828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192404243	chr16:76944865-76944866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551059716	chr16:76944866-76944867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571283769	chr16:76944869-76944870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139749057	chr16:76944898-76944899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370749349	chr16:76944937-76944938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76380628	chr16:76944949-76944950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573804815	chr16:76944953-76944954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555934684	chr16:76945005-76945006	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs536507047	chr16:76945024-76945025	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs553314555	chr16:76945031-76945032	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs72792592	chr16:76945045-76945046	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs575529143	chr16:76945085-76945086	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541463172	chr16:76945086-76945087	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs564587082	chr16:76945117-76945118	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs578006700	chr16:76945125-76945126	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs543915610	chr16:76945170-76945171	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201397342	chr16:76945174-76945175	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs183741063	chr16:76945181-76945182	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs531463592	chr16:76945189-76945190	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs549254966	chr16:76945195-76945196	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144428827	chr16:76945217-76945218	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528056198	chr16:76945228-76945229	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187738089	chr16:76945244-76945245	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545726036	chr16:76945263-76945264	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs571237984	chr16:76945315-76945316	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536719678	chr16:76945321-76945322	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs200798076	chr16:76945332-76945333	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs192748483	chr16:76945337-76945338	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567311131	chr16:76945349-76945350	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113220383	chr16:76945366-76945367	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Neuroblastoma	18923524	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76939200-76944800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:76944200-76944800	Enhancers	A549	lung
3	chr16:76944200-76947600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:76944400-76945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:76944400-76945600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr16:76944400-76946200	Enhancers	Osteobl	bone
7	chr16:76944800-76945000	Weak transcription	A549	lung
8	chr16:76944800-76945400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr16:76945000-76945600	Active TSS	A549	lung
10	chr16:76945400-76946800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr16:76945600-76946800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:76945600-76947000	Enhancers	A549	lung
13	chr16:76946200-76946600	Weak transcription	Osteobl	bone
14	chr16:76946600-76947200	Enhancers	Osteobl	bone
15	chr16:76946800-76947800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:76947000-76947200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:76947000-76947200	Flanking Active TSS	A549	lung
18	chr16:76947200-76947400	Enhancers	A549	lung
19	chr16:76947400-76947600	Flanking Active TSS	A549	lung
20	chr16:76951200-76951600	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr16:76951400-76951800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:76957400-76957800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr16:76957800-76965800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:76959400-76960200	Enhancers	Pancreas	Pancrea
25	chr16:76959400-76960800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:76959800-76960400	Enhancers	HepG2	liver
27	chr16:76959800-76960600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr16:76959800-76960800	Enhancers	Fetal Intestine Large	intestine
29	chr16:76959800-76960800	Enhancers	Fetal Intestine Small	intestine
30	chr16:76959800-76961000	Enhancers	Liver	Liver
31	chr16:76960000-76960800	Enhancers	Psoas Muscle	Psoas
32	chr16:76960000-76961400	Enhancers	Brain Germinal Matrix	brain
33	chr16:76960200-76960800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr16:76960200-76961000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr16:76960200-76961000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr16:76960400-76960800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr16:76960400-76960800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr16:76960400-76960800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr16:76960400-76961000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:76960400-76961000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr16:76960600-76961000	Enhancers	Fetal Brain Female	brain
42	chr16:76960600-76961400	Enhancers	Fetal Lung	lung
43	chr16:76960800-76966200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr16:76961000-76964600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr16:76964600-76966600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr16:76964800-76965000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:76964800-76965400	Enhancers	NHDF-Ad	bronchial
48	chr16:76965400-76965800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr16:76965400-76965800	Weak transcription	NHDF-Ad	bronchial
50	chr16:76965800-76966400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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