Variant report

Variant	esv3475741
Chromosome Location	chr7:16794549-16800658
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:16793915..16797924-chr7:16812688..16815916,4	K562	blood:
2	chr7:16795433..16797720-chr7:16943125..16945595,2	MCF-7	breast:
3	chr7:16795785..16798056-chr7:16809613..16812120,2	MCF-7	breast:
4	chr7:16798134..16800758-chr7:16806574..16808872,2	MCF-7	breast:
5	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
6	chr7:16779818..16782062-chr7:16798409..16800212,3	K562	blood:
7	chr7:16685517..16687243-chr7:16793230..16795207,2	K562	blood:
8	chr7:16793190..16795518-chr7:16923523..16926249,2	MCF-7	breast:
9	chr7:16781689..16783887-chr7:16794531..16797330,3	K562	blood:
10	chr15:52263919..52265515-chr7:16793247..16794965,2	MCF-7	breast:
11	chr7:16785410..16787895-chr7:16793449..16795182,2	MCF-7	breast:
12	chr7:16796604..16799522-chr7:16799940..16802682,3	MCF-7	breast:
13	chr7:16794915..16798218-chr7:16804001..16806170,3	MCF-7	breast:
14	chr7:16794921..16798267-chr7:16802631..16805801,3	MCF-7	breast:
15	chr7:16793297..16794819-chr7:16840473..16842534,2	MCF-7	breast:
16	chr7:16794917..16796909-chr7:16801074..16804000,3	K562	blood:
17	chr7:16796604..16799522-chr7:16799940..16802682,3	MCF-7	breast:
18	chr7:16793468..16795066-chr7:16813077..16814664,2	MCF-7	breast:
19	chr7:16793269..16796429-chr7:16820580..16823340,4	MCF-7	breast:
20	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:
21	chr7:16460318..16462710-chr7:16792580..16794734,3	K562	blood:
22	chr7:16793032..16794722-chr7:16798286..16800763,2	MCF-7	breast:
23	chr7:16776351..16778265-chr7:16793377..16796196,2	K562	blood:
24	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:
25	chr7:16735197..16737056-chr7:16793469..16795532,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions
ENSG00000106541	chromatin interactions
ENSG00000106524	chromatin interactions
ENSG00000106537	chromatin interactions
ENSG00000136261	chromatin interactions
ENSG00000166477	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148309246	chr7:16794553-16794554	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs78913846	chr7:16794582-16794583	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs114513682	chr7:16794591-16794592	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs76316899	chr7:16794597-16794598	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs552118834	chr7:16794607-16794608	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs34778908	chr7:16794643-16794644	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs562753306	chr7:16794655-16794656	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs544941278	chr7:16794657-16794658	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs559888836	chr7:16794670-16794671	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs527309703	chr7:16794671-16794672	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs542341723	chr7:16794681-16794682	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs142994518	chr7:16794740-16794741	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs186301550	chr7:16794859-16794860	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs550401717	chr7:16794977-16794978	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs557082132	chr7:16795050-16795051	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs818803	chr7:16795114-16795115	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs34234997	chr7:16795166-16795167	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs386409593	chr7:16795167-16795168	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs55649707	chr7:16795183-16795184	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs111606545	chr7:16795211-16795212	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532847763	chr7:16795236-16795237	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs191610650	chr7:16795261-16795262	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs111954136	chr7:16795283-16795284	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs58755731	chr7:16795326-16795327	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs818804	chr7:16795370-16795371	Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145889868	chr7:16795428-16795429	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs183819434	chr7:16795462-16795463	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs147069531	chr7:16795510-16795511	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs555929957	chr7:16795542-16795543	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542757306	chr7:16795544-16795545	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs818805	chr7:16795564-16795565	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs74488768	chr7:16795586-16795587	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs185849569	chr7:16795592-16795593	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550389039	chr7:16795596-16795597	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190999476	chr7:16795837-16795838	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs74880675	chr7:16795871-16795872	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183180966	chr7:16795892-16795893	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs138375499	chr7:16795899-16795900	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs554587682	chr7:16795917-16795918	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543585023	chr7:16795940-16795941	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs574623866	chr7:16795983-16795984	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs143894451	chr7:16796036-16796037	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs11976749	chr7:16796037-16796038	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376602906	chr7:16796067-16796068	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147304332	chr7:16796136-16796137	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs563157609	chr7:16796144-16796145	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs570522586	chr7:16796152-16796153	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs566349935	chr7:16796155-16796156	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs113314427	chr7:16796228-16796229	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs28621753	chr7:16796283-16796284	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16792800-16794600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr7:16792800-16794800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:16792800-16794800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr7:16792800-16794800	Active TSS	Duodenum Mucosa	Duodenum
5	chr7:16792800-16794800	Active TSS	Fetal Kidney	kidney
6	chr7:16792800-16795000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr7:16792800-16795000	Active TSS	Brain Angular Gyrus	brain
8	chr7:16792800-16795000	Active TSS	Fetal Brain Male	brain
9	chr7:16792800-16795200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:16792800-16795400	Active TSS	Right Atrium	heart
11	chr7:16792800-16795600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr7:16792800-16796200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:16792800-16796400	Active TSS	Fetal Intestine Small	intestine
14	chr7:16792800-16796600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:16792800-16796600	Active TSS	Fetal Brain Female	brain
16	chr7:16793000-16794600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:16793000-16794600	Active TSS	Brain Substantia Nigra	brain
18	chr7:16793000-16794600	Active TSS	Placenta Amnion	Placenta Amnion
19	chr7:16793000-16794800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:16793000-16794800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:16793000-16794800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:16793000-16794800	Active TSS	Esophagus	oesophagus
23	chr7:16793000-16794800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:16793000-16794800	Active TSS	NHLF	lung
25	chr7:16793000-16795000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:16793000-16795000	Active TSS	Colonic Mucosa	Colon
27	chr7:16793000-16795000	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:16793000-16795000	Active TSS	Fetal Lung	lung
29	chr7:16793000-16795000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chr7:16793000-16795000	Active TSS	Pancreas	Pancrea
31	chr7:16793000-16795000	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:16793000-16795000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr7:16793000-16795000	Active TSS	Stomach Mucosa	stomach
34	chr7:16793000-16795000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr7:16793000-16795200	Active TSS	Brain Anterior Caudate	brain
36	chr7:16793000-16795400	Active TSS	Right Ventricle	heart
37	chr7:16793000-16795600	Active TSS	Fetal Intestine Large	intestine
38	chr7:16793000-16796000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:16793000-16796800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr7:16793200-16794600	Active TSS	Primary B cells from peripheral blood	blood
41	chr7:16793200-16794800	Active TSS	Gastric	stomach
42	chr7:16793200-16794800	Active TSS	Left Ventricle	heart
43	chr7:16793600-16794600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
44	chr7:16793600-16794800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:16793600-16795000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr7:16793800-16794600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
47	chr7:16793800-16794600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr7:16793800-16795000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:16794000-16794600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:16794000-16794600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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