Variant report

Variant	esv2754804
Chromosome Location	chr16:81579729-81606569
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:73)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr16:81599256..81602188-chr16:81606327..81608500,2	MCF-7	breast:
2	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
3	chr16:81574586..81576745-chr16:81584543..81587499,2	K562	blood:
4	chr16:81478553..81481266-chr16:81577586..81580261,2	MCF-7	breast:
5	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
6	chr16:81596628..81600367-chr16:81601999..81604973,3	MCF-7	breast:
7	chr16:81585781..81588255-chr16:81593534..81595879,2	MCF-7	breast:
8	chr16:81605768..81607461-chr16:81629171..81631126,2	K562	blood:
9	chr16:81586015..81589398-chr16:81589613..81592514,4	MCF-7	breast:
10	chr16:81481928..81485099-chr16:81576354..81580756,4	K562	blood:
11	chr16:81480210..81481743-chr16:81584414..81586701,2	K562	blood:
12	chr16:81598717..81601651-chr16:81602868..81605781,2	K562	blood:
13	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
14	chr16:81596623..81599518-chr16:81602688..81606938,4	MCF-7	breast:
15	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
16	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
17	chr16:81588981..81591271-chr16:81595780..81598756,2	K562	blood:
18	chr16:81578943..81580979-chr16:81604433..81607387,2	K562	blood:
19	chr16:81587793..81589565-chr16:81593147..81594914,2	K562	blood:
20	chr16:81576839..81579779-chr16:81583456..81585257,2	K562	blood:
21	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
22	chr16:81589280..81593699-chr16:81599147..81604604,6	MCF-7	breast:
23	chr16:81571814..81573956-chr16:81577277..81579755,3	K562	blood:
24	chr16:81600677..81603897-chr16:81613066..81616910,4	MCF-7	breast:
25	chr16:81478629..81480173-chr16:81583912..81585599,2	MCF-7	breast:
26	chr16:81598717..81600767-chr16:81602624..81604368,2	K562	blood:
27	chr16:81477018..81482401-chr16:81598968..81605345,9	MCF-7	breast:
28	chr16:81602634..81605385-chr16:81607710..81610701,3	MCF-7	breast:
29	chr16:81580564..81583241-chr16:81583490..81586012,3	K562	blood:
30	chr16:81572067..81574321-chr16:81585203..81586981,2	K562	blood:
31	chr16:81557086..81559213-chr16:81591248..81592791,2	MCF-7	breast:
32	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
33	chr16:81575502..81578399-chr16:81587269..81589357,4	MCF-7	breast:
34	chr16:81477897..81480070-chr16:81586724..81588364,2	MCF-7	breast:
35	chr16:81478412..81480590-chr16:81581161..81582910,2	MCF-7	breast:
36	chr16:81602073..81603967-chr16:81621534..81623080,2	K562	blood:
37	chr16:81602466..81604147-chr16:81604965..81607517,2	MCF-7	breast:
38	chr16:81476183..81478436-chr16:81605516..81607162,2	K562	blood:
39	chr16:81586015..81589398-chr16:81589613..81592514,4	MCF-7	breast:
40	chr16:81512213..81514076-chr16:81604304..81607138,2	MCF-7	breast:
41	chr16:81587032..81590904-chr16:81592569..81595083,4	K562	blood:
42	chr16:81572606..81575299-chr16:81599746..81602718,2	MCF-7	breast:
43	chr16:81595297..81597830-chr16:81598340..81600112,2	K562	blood:
44	chr16:81601841..81604021-chr16:81605526..81607145,2	MCF-7	breast:
45	chr16:81585781..81588255-chr16:81593534..81595879,2	MCF-7	breast:
46	chr16:81586835..81588438-chr16:81601236..81603502,2	MCF-7	breast:
47	chr16:81591701..81593949-chr16:81629587..81632188,2	MCF-7	breast:
48	chr16:81595733..81597797-chr16:81598756..81601475,2	MCF-7	breast:
49	chr16:81578943..81580979-chr16:81604433..81607387,2	K562	blood:
50	chr16:81587793..81589565-chr16:81593147..81594914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197943	chromatin interactions
ENSG00000153815	chromatin interactions

Extended variants
information (count: 1476 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1476 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514517	chr16:81579729-81579730	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60279011	chr16:81579737-81579738	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75059574	chr16:81579743-81579744	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371411297	chr16:81579802-81579803	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140762334	chr16:81579818-81579819	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs150107788	chr16:81579819-81579820	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10514518	chr16:81579827-81579828	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs527354347	chr16:81579847-81579848	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547120257	chr16:81579860-81579861	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552194486	chr16:81579896-81579897	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570461120	chr16:81579917-81579918	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148820885	chr16:81579918-81579919	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs12932885	chr16:81579923-81579924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs574697807	chr16:81579974-81579975	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549369406	chr16:81579976-81579977	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112773065	chr16:81579988-81579989	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs76657921	chr16:81579993-81579994	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs79208952	chr16:81580013-81580014	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185916182	chr16:81580056-81580057	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187985824	chr16:81580071-81580072	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181886286	chr16:81580072-81580073	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12448684	chr16:81580088-81580089	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs560732597	chr16:81580149-81580150	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541341584	chr16:81580169-81580170	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs186140592	chr16:81580225-81580226	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs74943370	chr16:81580241-81580242	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs117428761	chr16:81580273-81580274	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71400162	chr16:81580286-81580287	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563724818	chr16:81580322-81580323	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373613520	chr16:81580342-81580343	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190566444	chr16:81580356-81580357	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552277188	chr16:81580384-81580385	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570493609	chr16:81580414-81580415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143078815	chr16:81580441-81580442	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs546936040	chr16:81580450-81580451	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568296942	chr16:81580476-81580477	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535298189	chr16:81580492-81580493	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557160272	chr16:81580495-81580496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571773416	chr16:81580502-81580503	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183368269	chr16:81580503-81580504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145095468	chr16:81580507-81580508	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs56057266	chr16:81580508-81580509	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540981263	chr16:81580514-81580515	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559632102	chr16:81580536-81580537	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575120058	chr16:81580555-81580556	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542159590	chr16:81580556-81580557	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563937196	chr16:81580558-81580559	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111530606	chr16:81580570-81580571	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368442360	chr16:81580602-81580603	Weak transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372000005	chr16:81580612-81580613	Weak transcription ZNF genes & repeats 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:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
5	chr16:81568000-81582000	Genic enhancers	A549	lung
6	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
7	chr16:81573200-81580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:81573400-81579800	Weak transcription	Brain Germinal Matrix	brain
9	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr16:81575000-81587600	Enhancers	Lung	lung
12	chr16:81576000-81580000	Enhancers	Liver	Liver
13	chr16:81576200-81580000	Enhancers	Esophagus	oesophagus
14	chr16:81576400-81580200	Enhancers	Primary T cells fromperipheralblood	blood
15	chr16:81576400-81583000	Enhancers	Primary hematopoietic stem cells	blood
16	chr16:81576600-81580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:81576600-81580000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:81576800-81582200	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:81576800-81583000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr16:81577000-81583600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr16:81577200-81579800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr16:81577400-81583600	Weak transcription	K562	blood
23	chr16:81577400-81591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr16:81577600-81579800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr16:81577600-81579800	Enhancers	GM12878-XiMat	blood
26	chr16:81577600-81581600	Enhancers	Fetal Thymus	thymus
27	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:81577800-81579800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr16:81577800-81580800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:81577800-81582400	Weak transcription	Fetal Kidney	kidney
31	chr16:81578000-81579800	Enhancers	HMEC	breast
32	chr16:81578000-81580000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr16:81578000-81580400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:81578000-81581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:81578200-81579800	Genic enhancers	NHEK	skin
36	chr16:81578200-81580200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr16:81578200-81580800	Enhancers	Brain Anterior Caudate	brain
38	chr16:81578200-81581200	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:81578200-81581800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr16:81578200-81584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr16:81578400-81580000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr16:81578400-81580600	Weak transcription	Left Ventricle	heart
43	chr16:81578400-81581000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr16:81578400-81581200	Weak transcription	Fetal Heart	heart
45	chr16:81578400-81581400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr16:81578400-81583600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr16:81578600-81579800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr16:81578600-81580400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr16:81578600-81580800	Genic enhancers	HepG2	liver
50	chr16:81578600-81581000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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