Variant report

Variant	nsv819766
Chromosome Location	chr7:11013538-11014365
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
2	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
3	chr7:10972604..10974747-chr7:11013678..11015868,2	K562	blood:
4	chr11:73019220..73019808-chr7:11012749..11013563,2	HCT-116	colon:
5	chr7:11012745..11013588-chrX:16737490..16738055,2	Hela-S3	cervix:
6	chr7:11013556..11016152-chr7:11041534..11043076,2	MCF-7	breast:
7	chr7:11012451..11014446-chr7:11075009..11077346,2	MCF-7	breast:
8	chr7:11013088..11016193-chr7:11045661..11047742,3	MCF-7	breast:
9	chr7:11012908..11015544-chr7:11049769..11053521,4	MCF-7	breast:
10	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:
11	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:

No data

Variant related genes	Relation type
ENSG00000189043	chromatin interactions
ENSG00000271185	chromatin interactions
ENSG00000110237	chromatin interactions
ENSG00000230370	chromatin interactions
ENSG00000106443	chromatin interactions
ENSG00000169895	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564199002	chr7:11013554-11013555	Active TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs143245221	chr7:11013564-11013565	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs112847887	chr7:11013571-11013572	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs189623897	chr7:11013581-11013582	Active TSS Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs567409954	chr7:11013594-11013595	Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs536359493	chr7:11013624-11013625	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs111286363	chr7:11013625-11013626	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs35365137	chr7:11013695-11013696	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs181951461	chr7:11013700-11013701	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs566551304	chr7:11013727-11013728	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs538674004	chr7:11013764-11013765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs558511219	chr7:11013765-11013766	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs575570418	chr7:11013785-11013786	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs569483129	chr7:11013807-11013808	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs554867624	chr7:11013827-11013828	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs574935762	chr7:11013865-11013866	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs187408489	chr7:11013870-11013871	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs559462462	chr7:11013878-11013879	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs572960331	chr7:11013893-11013894	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs148119167	chr7:11013926-11013927	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs374112332	chr7:11013934-11013935	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs190074	chr7:11013948-11013949	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564871182	chr7:11014006-11014007	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs530720821	chr7:11014011-11014012	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs549241697	chr7:11014014-11014015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs550813162	chr7:11014022-11014023	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs376336711	chr7:11014050-11014051	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs560943834	chr7:11014052-11014053	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs529873064	chr7:11014059-11014060	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs546454504	chr7:11014068-11014069	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs566657049	chr7:11014165-11014166	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs17163854	chr7:11014215-11014216	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs374468111	chr7:11014238-11014239	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs73277328	chr7:11014274-11014275	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs568864681	chr7:11014277-11014278	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs78846664	chr7:11014289-11014290	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs555209380	chr7:11014299-11014300	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs568581138	chr7:11014354-11014355	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs534439983	chr7:11014357-11014358	Active TSS Flanking Active TSS Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	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
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11012200-11014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:11012400-11014000	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:11012400-11014200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:11012400-11014200	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:11012400-11014200	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:11012400-11014600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:11012400-11014600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:11012400-11014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:11012400-11014600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:11012400-11015000	Active TSS	HepG2	liver
11	chr7:11012400-11015800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:11012400-11016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:11012600-11014000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:11012600-11014000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:11012600-11014000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:11012600-11014200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:11012600-11014200	Active TSS	Brain Angular Gyrus	brain
18	chr7:11012600-11014200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:11012600-11014200	Active TSS	Brain Substantia Nigra	brain
20	chr7:11012600-11014200	Active TSS	NH-A	brain
21	chr7:11012600-11014400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:11012600-11014400	Active TSS	Fetal Intestine Large	intestine
23	chr7:11012600-11014400	Active TSS	HMEC	breast
24	chr7:11012600-11014600	Active TSS	Brain Anterior Caudate	brain
25	chr7:11012600-11014600	Active TSS	Fetal Brain Female	brain
26	chr7:11012600-11014600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:11012600-11015200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr7:11012600-11015600	Active TSS	A549	lung
29	chr7:11012800-11013600	Active TSS	Brain Germinal Matrix	brain
30	chr7:11012800-11013800	Active TSS	Primary hematopoietic stem cells	blood
31	chr7:11012800-11014000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:11012800-11014000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:11012800-11014000	Active TSS	Duodenum Mucosa	Duodenum
34	chr7:11012800-11014000	Active TSS	Placenta	Placenta
35	chr7:11012800-11014000	Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr7:11012800-11014200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:11012800-11014200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:11012800-11014200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:11012800-11014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:11012800-11014200	Active TSS	Colon Smooth Muscle	Colon
41	chr7:11012800-11014200	Active TSS	Fetal Muscle Trunk	muscle
42	chr7:11012800-11014200	Active TSS	Left Ventricle	heart
43	chr7:11012800-11014200	Active TSS	Pancreas	Pancrea
44	chr7:11012800-11014200	Active TSS	Right Atrium	heart
45	chr7:11012800-11014200	Active TSS	NHDF-Ad	bronchial
46	chr7:11012800-11014400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:11012800-11014400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:11012800-11014400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:11012800-11014400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:11012800-11014400	Active TSS	Esophagus	oesophagus

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