Variant report

Variant	nsv981475
Chromosome Location	chr7:56147793-56149426
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56140641..56145552-chr7:56146010..56150686,7	K562	blood:
2	chr7:56146186..56148845-chr7:56149332..56152482,3	K562	blood:
3	chr7:56149316..56151078-chr7:56155197..56157002,2	K562	blood:
4	chr7:56147298..56149157-chr7:56173833..56175418,2	MCF-7	breast:
5	chr7:56146186..56148845-chr7:56149332..56152482,3	K562	blood:
6	chr7:56131866..56134691-chr7:56145964..56148262,2	MCF-7	breast:
7	chr7:56139442..56142282-chr7:56145954..56148779,2	MCF-7	breast:
8	chr7:56132043..56135542-chr7:56146792..56149237,3	K562	blood:
9	chr7:56149181..56151759-chr7:56158408..56161980,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106153	chromatin interactions
ENSG00000129103	chromatin interactions
ENSG00000164776	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554815677	chr7:56147817-56147818	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186076985	chr7:56147848-56147849	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs55772621	chr7:56147898-56147899	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs540388842	chr7:56147910-56147911	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs3209839	chr7:56147932-56147933	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs200496288	chr7:56147953-56147954	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs71015184	chr7:56147976-56147977	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565238913	chr7:56148017-56148018	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs189802989	chr7:56148025-56148026	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs544371922	chr7:56148047-56148048	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs562936497	chr7:56148054-56148055	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs530093700	chr7:56148068-56148069	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs549318027	chr7:56148076-56148077	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs567533294	chr7:56148101-56148102	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528304793	chr7:56148130-56148131	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546725047	chr7:56148154-56148155	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571348443	chr7:56148176-56148177	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs575589802	chr7:56148194-56148195	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs35281239	chr7:56148256-56148257	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142735285	chr7:56148365-56148366	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556763551	chr7:56148388-56148389	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544468585	chr7:56148394-56148395	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs568859076	chr7:56148464-56148465	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573821445	chr7:56148484-56148485	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs12535872	chr7:56148519-56148520	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs554854696	chr7:56148557-56148558	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573157759	chr7:56148579-56148580	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs540521977	chr7:56148625-56148626	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139622034	chr7:56148645-56148646	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs74720138	chr7:56148653-56148654	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs79373840	chr7:56148655-56148656	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs577351430	chr7:56148667-56148668	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs143730891	chr7:56148677-56148678	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs369534140	chr7:56148705-56148706	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs374559839	chr7:56148731-56148732	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs533321342	chr7:56148746-56148747	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs141230469	chr7:56148761-56148762	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142250443	chr7:56148762-56148763	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs151274553	chr7:56148776-56148777	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs375841179	chr7:56148779-56148780	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369367841	chr7:56148780-56148781	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs55793118	chr7:56148792-56148793	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140495986	chr7:56148798-56148799	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372047445	chr7:56148811-56148812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs150151056	chr7:56148825-56148826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546567087	chr7:56148828-56148829	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs182098876	chr7:56148853-56148854	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs200148808	chr7:56148860-56148861	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138812614	chr7:56148867-56148868	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs373447305	chr7:56148877-56148878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Lung adenocarcinoma	21935476	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56134000-56152000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
4	chr7:56138800-56156200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:56138800-56167600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr7:56140400-56152000	Strong transcription	Dnd41	blood
7	chr7:56140800-56153000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:56142000-56151600	Strong transcription	Thymus	Thymus
9	chr7:56142000-56168000	Weak transcription	GM12878-XiMat	blood
10	chr7:56142200-56149600	Weak transcription	Fetal Kidney	kidney
11	chr7:56142200-56167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:56142400-56156400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:56142600-56159800	Strong transcription	Fetal Intestine Small	intestine
14	chr7:56143400-56150400	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:56143800-56151000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:56143800-56153200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:56144000-56147800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:56144000-56148000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:56144000-56151200	Strong transcription	Primary T cells from cord blood	blood
20	chr7:56144200-56147800	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr7:56144200-56147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:56144200-56147800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:56144200-56147800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:56144200-56147800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:56144200-56147800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:56144200-56147800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:56144200-56147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:56144200-56147800	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:56144200-56148000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:56144200-56148800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:56144200-56149800	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr7:56144200-56150000	Strong transcription	Fetal Thymus	thymus
33	chr7:56144200-56150400	Strong transcription	A549	lung
34	chr7:56144200-56150800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:56144200-56151800	Strong transcription	Fetal Intestine Large	intestine
36	chr7:56144200-56152000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:56144200-56157200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:56144400-56150000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:56145200-56150000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr7:56145200-56151200	Strong transcription	Placenta	Placenta
41	chr7:56145200-56153000	Genic enhancers	Fetal Muscle Leg	muscle
42	chr7:56145400-56147800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:56145400-56147800	Strong transcription	NHEK	skin
44	chr7:56145400-56149600	Strong transcription	Spleen	Spleen
45	chr7:56145400-56150000	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:56145400-56150400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:56145600-56147800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:56145600-56148800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:56145800-56147800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:56145800-56149000	Strong transcription	Primary T helper cells PMA-I stimulated	--

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