Variant report

Variant	esv275004
Chromosome Location	chr16:82679532-82682487
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	chr16:82680839..82682470-chr16:82683350..82685003,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HSD17B2-5	chr16:82679840-82679937	NONHSAT143992

Extended variants
information (count: 186 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11861857	chr16:82679532-82679533	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559785666	chr16:82679538-82679539	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11150484	chr16:82679566-82679567	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs149889912	chr16:82679623-82679624	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550126650	chr16:82679646-82679647	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9928814	chr16:82679662-82679663	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs9921247	chr16:82679732-82679733	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs549906652	chr16:82679743-82679744	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539304703	chr16:82679753-82679754	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554489618	chr16:82679765-82679766	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7199216	chr16:82679817-82679818	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568659335	chr16:82679818-82679819	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554806633	chr16:82679819-82679820	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576442296	chr16:82679839-82679840	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543458112	chr16:82679855-82679856	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs369678355	chr16:82679863-82679864	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs373269742	chr16:82679877-82679878	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs576745333	chr16:82679897-82679898	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs7198007	chr16:82679898-82679899	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs192095446	chr16:82679904-82679905	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs547650161	chr16:82679905-82679906	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs7199422	chr16:82679914-82679915	Weak transcription Genic enhancers Enhancers Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs56225555	chr16:82679939-82679940	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7198036	chr16:82679940-82679941	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183186596	chr16:82679952-82679953	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189053753	chr16:82679985-82679986	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193102806	chr16:82679986-82679987	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534578827	chr16:82680040-82680041	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548157182	chr16:82680046-82680047	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570783735	chr16:82680048-82680049	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148802371	chr16:82680050-82680051	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377475957	chr16:82680053-82680054	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7205417	chr16:82680094-82680095	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184288376	chr16:82680113-82680114	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144889945	chr16:82680138-82680139	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558614362	chr16:82680153-82680154	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576857536	chr16:82680160-82680161	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541015880	chr16:82680165-82680166	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559228774	chr16:82680184-82680185	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574626677	chr16:82680189-82680190	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541679196	chr16:82680213-82680214	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs80339467	chr16:82680242-82680243	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530603217	chr16:82680248-82680249	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570039449	chr16:82680254-82680255	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7205401	chr16:82680270-82680271	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs564168756	chr16:82680285-82680286	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370405591	chr16:82680288-82680289	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34183380	chr16:82680299-82680300	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7203382	chr16:82680307-82680308	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189252034	chr16:82680312-82680313	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD
Melanoma	20688739	CNVD
Autism	20841430	CNVD
Autism	22549408	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82672000-82681400	Weak transcription	Esophagus	oesophagus
2	chr16:82672200-82685800	Weak transcription	HSMMtube	muscle
3	chr16:82673800-82685600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr16:82675400-82682800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr16:82675400-82682800	Weak transcription	HMEC	breast
6	chr16:82675600-82680600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr16:82675600-82680600	Weak transcription	Right Ventricle	heart
8	chr16:82675600-82682400	Weak transcription	HSMM	muscle
9	chr16:82675600-82683000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr16:82676400-82680000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:82676800-82681000	Weak transcription	Colonic Mucosa	Colon
12	chr16:82677000-82679800	Weak transcription	Psoas Muscle	Psoas
13	chr16:82677200-82679800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr16:82677200-82683800	Weak transcription	GM12878-XiMat	blood
15	chr16:82678000-82685600	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:82678000-82687000	Weak transcription	Lung	lung
17	chr16:82678200-82679600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr16:82678200-82682600	Weak transcription	NHEK	skin
19	chr16:82678400-82679600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr16:82678400-82683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:82678400-82687000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:82679000-82685200	Weak transcription	Osteobl	bone
23	chr16:82679000-82685400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr16:82679200-82680000	Weak transcription	Left Ventricle	heart
25	chr16:82679200-82680400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr16:82679200-82686800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr16:82679400-82683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr16:82679400-82683200	Weak transcription	NH-A	brain
29	chr16:82679400-82686800	Weak transcription	Fetal Heart	heart
30	chr16:82679600-82681600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr16:82679600-82685200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr16:82679800-82680800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr16:82679800-82681600	Enhancers	Psoas Muscle	Psoas
34	chr16:82679800-82687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr16:82680000-82680800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr16:82680000-82681400	Enhancers	Left Ventricle	heart
37	chr16:82680400-82683200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr16:82680600-82681000	Enhancers	Right Ventricle	heart
39	chr16:82680600-82681200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:82680800-82682800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:82680800-82683000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr16:82681000-82681200	Enhancers	Colonic Mucosa	Colon
43	chr16:82681000-82685800	Weak transcription	Right Ventricle	heart
44	chr16:82681200-82681400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr16:82681200-82687000	Weak transcription	Colonic Mucosa	Colon
46	chr16:82681400-82681600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr16:82681400-82683000	Weak transcription	Left Ventricle	heart
48	chr16:82681600-82682800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr16:82681600-82682800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:82681600-82683000	Weak transcription	Psoas Muscle	Psoas

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