Variant report

Variant	nsv524589
Chromosome Location	chr16:81592934-81609298
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:47)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:47 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81591701..81593949-chr16:81629587..81632188,2	MCF-7	breast:
2	chr16:81606753..81608792-chr16:81731743..81734236,2	MCF-7	breast:
3	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:
4	chr16:81605768..81607461-chr16:81629171..81631126,2	K562	blood:
5	chr16:81585781..81588255-chr16:81593534..81595879,2	MCF-7	breast:
6	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
7	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
8	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
9	chr16:81578943..81580979-chr16:81604433..81607387,2	K562	blood:
10	chr16:81501153..81503002-chr16:81601427..81603985,2	K562	blood:
11	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
12	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
13	chr16:81587793..81589565-chr16:81593147..81594914,2	K562	blood:
14	chr16:81587032..81590904-chr16:81592569..81595083,4	K562	blood:
15	chr16:81602506..81605471-chr16:81607457..81609073,2	K562	blood:
16	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
17	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
18	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
19	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
20	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:
21	chr16:81597424..81600229-chr16:81641597..81643901,2	K562	blood:
22	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
23	chr16:81608171..81610692-chr16:81611285..81613307,2	K562	blood:
24	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
25	chr16:81586835..81588438-chr16:81601236..81603502,2	MCF-7	breast:
26	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
27	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
28	chr16:81607192..81611602-chr16:81637708..81641189,4	MCF-7	breast:
29	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
30	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
31	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
32	chr16:81578640..81580177-chr16:81596522..81598545,2	MCF-7	breast:
33	chr16:81598717..81600767-chr16:81602624..81604368,2	K562	blood:
34	chr16:81602073..81603967-chr16:81621534..81623080,2	K562	blood:
35	chr16:81486896..81488783-chr16:81605459..81607539,2	K562	blood:
36	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
37	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
38	chr16:81598717..81600767-chr16:81602624..81604368,2	K562	blood:
39	chr16:81602506..81605471-chr16:81607457..81609073,2	K562	blood:
40	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
41	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
42	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
43	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
44	chr16:81588981..81591271-chr16:81595780..81598756,2	K562	blood:
45	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
46	chr16:81512213..81514076-chr16:81604304..81607138,2	MCF-7	breast:
47	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000153815	chromatin interactions

Extended variants
information (count: 910 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:910 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2966115	chr16:81592934-81592935	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191378146	chr16:81592936-81592937	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs374895764	chr16:81592946-81592947	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs182797925	chr16:81592948-81592949	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs546933375	chr16:81592984-81592985	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs112821820	chr16:81593023-81593024	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs149306164	chr16:81593024-81593025	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs559411469	chr16:81593096-81593097	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs529664431	chr16:81593107-81593108	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs566723003	chr16:81593122-81593123	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs77285458	chr16:81593165-81593166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs187867484	chr16:81593171-81593172	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs61172070	chr16:81593172-81593173	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs115494157	chr16:81593175-81593176	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs144489404	chr16:81593183-81593184	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs570608271	chr16:81593224-81593225	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs200902026	chr16:81593236-81593237	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs565248059	chr16:81593262-81593263	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs73596448	chr16:81593263-81593264	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2911279	chr16:81593274-81593275	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs191313032	chr16:81593291-81593292	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs74338378	chr16:81593305-81593306	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs373647778	chr16:81593315-81593316	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs554537502	chr16:81593330-81593331	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs141604365	chr16:81593335-81593336	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs368070438	chr16:81593353-81593354	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs111713098	chr16:81593357-81593358	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs377507422	chr16:81593390-81593391	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs577338076	chr16:81593402-81593403	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62046637	chr16:81593444-81593445	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs559448254	chr16:81593478-81593479	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147142466	chr16:81593508-81593509	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541893157	chr16:81593521-81593522	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs75970157	chr16:81593536-81593537	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62046638	chr16:81593545-81593546	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113956950	chr16:81593547-81593548	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560652618	chr16:81593550-81593551	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187827689	chr16:81593568-81593569	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62046639	chr16:81593578-81593579	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs62046640	chr16:81593609-81593610	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147545382	chr16:81593620-81593621	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530133525	chr16:81593622-81593623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372409242	chr16:81593626-81593627	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9940442	chr16:81593658-81593659	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537361884	chr16:81593696-81593697	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9922354	chr16:81593704-81593705	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs570964220	chr16:81593715-81593716	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200446619	chr16:81593743-81593744	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535271920	chr16:81593761-81593762	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs139595132	chr16:81593762-81593763	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
2	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
6	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
8	chr16:81586000-81601400	Weak transcription	Fetal Thymus	thymus
9	chr16:81587000-81596600	Weak transcription	Brain Angular Gyrus	brain
10	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr16:81587400-81594200	Weak transcription	Osteobl	bone
12	chr16:81587400-81597200	Weak transcription	Fetal Brain Female	brain
13	chr16:81587600-81594200	Weak transcription	NH-A	brain
14	chr16:81587600-81594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:81588200-81596600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr16:81588200-81600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:81588400-81594200	Weak transcription	HUVEC	blood vessel
20	chr16:81589200-81598800	Weak transcription	Thymus	Thymus
21	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
22	chr16:81589400-81593400	Weak transcription	Placenta	Placenta
23	chr16:81589400-81598800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr16:81589600-81594200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr16:81589800-81595800	Weak transcription	Fetal Stomach	stomach
26	chr16:81590000-81597600	Genic enhancers	HepG2	liver
27	chr16:81590400-81594200	Weak transcription	Dnd41	blood
28	chr16:81590600-81594200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:81590600-81595600	Enhancers	Fetal Intestine Large	intestine
30	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:81590800-81593600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr16:81590800-81594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:81590800-81594400	Weak transcription	NHLF	lung
34	chr16:81591000-81594200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr16:81591400-81593400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:81591400-81593400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr16:81591400-81593400	Enhancers	Pancreas	Pancrea
38	chr16:81591400-81593400	Transcr. at gene 5' and 3'	A549	lung
39	chr16:81591400-81594000	Weak transcription	NHDF-Ad	bronchial
40	chr16:81591400-81594200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81591600-81593200	Enhancers	Primary hematopoietic stem cells	blood
42	chr16:81591600-81593200	Enhancers	Brain Cingulate Gyrus	brain
43	chr16:81591600-81593200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr16:81591600-81593400	Genic enhancers	K562	blood
45	chr16:81591800-81593000	Enhancers	Primary B cells from peripheral blood	blood
46	chr16:81591800-81593000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr16:81591800-81593000	Enhancers	Fetal Muscle Leg	muscle
48	chr16:81591800-81593200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr16:81591800-81593200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr16:81591800-81593200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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