Variant report

Variant	esv32537
Chromosome Location	chr16:74585738-74593139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:74588282-74588480	IMR90	lung:	n/a	n/a
2	CTCF	chr16:74590340-74590490	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr16:74590468-74590540	NHEK	skin:	n/a	n/a
4	CTCF	chr16:74589808-74589859	Fibrobl	skin:	n/a	n/a
5	FOS	chr16:74590311-74590530	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr16:74588017-74588216	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr16:74588014-74588176	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr16:74587985-74588326	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr16:74590334-74590558	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr16:74585580-74585806	HepG2	liver:	n/a	chr16:74585638-74585647
11	MAX	chr16:74590151-74590596	HCT-116	colon:	n/a	n/a
12	POLR2A	chr16:74591250-74591693	SK-N-MC	brain:	n/a	n/a
13	POLR2A	chr16:74590756-74591073	SK-N-MC	brain:	n/a	n/a
14	SPI1	chr16:74586388-74586587	GM12878	blood:	n/a	n/a
15	SPI1	chr16:74586404-74586559	K562	blood:	n/a	n/a
16	SPI1	chr16:74591186-74591496	GM12891	blood:	n/a	chr16:74591391-74591400
17	STAT3	chr16:74590126-74590634	MCF10A-Er-Src	breast:	n/a	n/a
18	TCF7L2	chr16:74592871-74592880	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NPIPL2-5	chr16:74586149-74586644	NONHSAT143696

Variant related genes	Relation type
ENSG00000240861	TF binding region

Extended variants
information (count: 262 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62054177	chr16:74585754-74585755	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531840242	chr16:74585755-74585756	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs67871226	chr16:74585760-74585761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs12448026	chr16:74585778-74585779	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs527912690	chr16:74585822-74585823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367967064	chr16:74585920-74585921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571162987	chr16:74585943-74585944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561605151	chr16:74585955-74585956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533453004	chr16:74586008-74586009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374330896	chr16:74586015-74586016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2113311	chr16:74586019-74586020	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs568719630	chr16:74586227-74586228	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs537564882	chr16:74586238-74586239	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs530845769	chr16:74586255-74586256	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs567794808	chr16:74586260-74586261	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs533775577	chr16:74586269-74586270	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs2161735	chr16:74586281-74586282	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs144097496	chr16:74586324-74586325	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376473782	chr16:74586346-74586347	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs2550852	chr16:74586374-74586375	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs141381755	chr16:74586375-74586376	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs150766983	chr16:74586440-74586441	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs545735008	chr16:74586524-74586525	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs556535536	chr16:74586528-74586529	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs200585288	chr16:74586569-74586570	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs2549027	chr16:74586572-74586573	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs563697957	chr16:74586585-74586586	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs542219668	chr16:74586593-74586594	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs562195478	chr16:74586677-74586678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56381403	chr16:74586686-74586687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186564712	chr16:74586702-74586703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541692515	chr16:74586707-74586708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369390190	chr16:74586718-74586719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564475905	chr16:74586797-74586798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59786691	chr16:74586817-74586818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2549026	chr16:74586818-74586819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533686685	chr16:74586874-74586875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550173974	chr16:74586875-74586876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189758204	chr16:74586891-74586892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77194882	chr16:74586898-74586899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28712225	chr16:74586899-74586900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531235496	chr16:74586902-74586903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182370194	chr16:74586956-74586957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567858509	chr16:74586969-74586970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187038574	chr16:74586972-74586973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547574231	chr16:74586990-74586991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570517790	chr16:74587067-74587068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539740912	chr16:74587075-74587076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192727312	chr16:74587081-74587082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183468872	chr16:74587106-74587107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	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
Epilepsy	20502679	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74537600-74604800	Weak transcription	Thymus	Thymus
2	chr16:74542800-74590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr16:74556400-74595600	Weak transcription	NH-A	brain
4	chr16:74559200-74594000	Weak transcription	Ovary	ovary
5	chr16:74559400-74591200	Weak transcription	Primary T cells from cord blood	blood
6	chr16:74563200-74598000	Weak transcription	Fetal Intestine Small	intestine
7	chr16:74563200-74622400	Weak transcription	Fetal Stomach	stomach
8	chr16:74565000-74597000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr16:74565600-74597000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:74578400-74591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr16:74578600-74587600	Weak transcription	HUVEC	blood vessel
12	chr16:74578600-74589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:74578600-74597400	Weak transcription	Pancreas	Pancrea
14	chr16:74579200-74597200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:74580200-74591400	Weak transcription	HepG2	liver
16	chr16:74580200-74593400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:74580400-74591200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr16:74580600-74591200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr16:74581800-74590400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr16:74582600-74595000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:74582800-74591200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:74582800-74594800	Weak transcription	Left Ventricle	heart
23	chr16:74582800-74595000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr16:74583000-74595600	Weak transcription	Hela-S3	cervix
25	chr16:74583000-74617200	Weak transcription	Fetal Muscle Leg	muscle
26	chr16:74585000-74591200	Weak transcription	Fetal Brain Male	brain
27	chr16:74585000-74597400	Weak transcription	Esophagus	oesophagus
28	chr16:74585400-74601000	Weak transcription	Fetal Thymus	thymus
29	chr16:74586400-74594800	Weak transcription	Liver	Liver
30	chr16:74587600-74589000	Enhancers	HUVEC	blood vessel
31	chr16:74587600-74612200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:74587800-74593800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:74588200-74588400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr16:74588200-74588400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:74588200-74588400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr16:74588200-74596800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:74588200-74623200	Weak transcription	Primary B cells from cord blood	blood
38	chr16:74588400-74590400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr16:74588400-74595600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr16:74588400-74597200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:74588600-74591200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr16:74589000-74594800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr16:74589000-74595000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr16:74589000-74595600	Weak transcription	HUVEC	blood vessel
45	chr16:74589600-74594800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:74589800-74590600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr16:74589800-74590600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:74589800-74590600	Enhancers	Lung	lung
49	chr16:74589800-74591000	Enhancers	HMEC	breast
50	chr16:74589800-74595600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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