Variant report

Variant	nsv606045
Chromosome Location	chr7:7704889-7755491
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:41)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7720780..7722829-chr7:8008432..8010921,2	MCF-7	breast:
2	chr7:7679919..7682368-chr7:7729698..7732128,2	K562	blood:
3	chr7:7742832..7745558-chr7:7749813..7751585,2	K562	blood:
4	chr7:7705626..7708031-chr7:7715010..7717688,3	K562	blood:
5	chr7:7708519..7710790-chr7:7711847..7714046,2	K562	blood:
6	chr7:7720832..7721819-chr7:7800536..7801542,7	MCF-7	breast:
7	chr7:7710276..7712409-chr7:7714485..7717060,3	MCF-7	breast:
8	chr7:7719627..7722096-chr7:8004642..8007515,2	MCF-7	breast:
9	chr7:7742121..7744210-chr7:7768171..7770972,2	MCF-7	breast:
10	chr7:7731359..7733011-chr7:7740731..7743536,2	MCF-7	breast:
11	chr7:7713254..7715065-chr7:7752185..7753849,2	K562	blood:
12	chr7:7708519..7710790-chr7:7711847..7714046,2	K562	blood:
13	chr7:7704790..7707554-chr7:7715010..7717465,2	K562	blood:
14	chr7:7705626..7708031-chr7:7715010..7717688,3	K562	blood:
15	chr7:7753122..7754929-chr7:7755971..7758600,2	MCF-7	breast:
16	chr7:7710276..7712409-chr7:7714485..7717060,3	MCF-7	breast:
17	chr7:7737251..7739493-chr7:7744251..7746745,3	K562	blood:
18	chr7:7713254..7715065-chr7:7752185..7753849,2	K562	blood:
19	chr7:7737993..7740091-chr7:7743068..7745751,2	K562	blood:
20	chr7:7704790..7707554-chr7:7715010..7717465,2	K562	blood:
21	chr7:7604510..7607346-chr7:7752529..7754039,2	MCF-7	breast:
22	chr7:7749070..7751862-chr7:7752531..7755969,3	MCF-7	breast:
23	chr7:7737251..7739493-chr7:7744251..7746745,3	K562	blood:
24	chr7:7731035..7732628-chr7:7734421..7736986,2	MCF-7	breast:
25	chr7:7751274..7753371-chr7:7753426..7756190,2	K562	blood:
26	chr7:7731035..7732628-chr7:7734421..7736986,2	MCF-7	breast:
27	chr7:7726990..7730835-chr7:7733488..7736848,3	K562	blood:
28	chr7:7721081..7721703-chr7:7804254..7805179,2	MCF-7	breast:
29	chr7:7742832..7745558-chr7:7749813..7751585,2	K562	blood:
30	chr7:7751274..7753371-chr7:7753426..7756190,2	K562	blood:
31	chr7:7720725..7721395-chr7:8256882..8257575,2	MCF-7	breast:
32	chr7:7749070..7751862-chr7:7752531..7755969,3	MCF-7	breast:
33	chr7:7721232..7721744-chr7:8075592..8076157,2	MCF-7	breast:
34	chr7:7726921..7729917-chr7:7734737..7737606,4	K562	blood:
35	chr7:7737993..7740091-chr7:7743068..7745751,2	K562	blood:
36	chr7:7679863..7681686-chr7:7702542..7704997,4	K562	blood:
37	chr7:7702478..7704915-chr7:7709957..7711916,2	MCF-7	breast:
38	chr7:7731359..7733011-chr7:7740731..7743536,2	MCF-7	breast:
39	chr7:7726990..7730835-chr7:7733488..7736848,3	K562	blood:
40	chr7:7726921..7729917-chr7:7734737..7737606,4	K562	blood:
41	chr7:7702478..7704915-chr7:7709957..7711916,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006465.3.1-1	chr7:7728976-7729091	NONHSAT119130

No data

Variant related genes	Relation type
ENSG00000233108	chromatin interactions
ENSG00000164654	chromatin interactions
ENSG00000272894	chromatin interactions
ENSG00000106399	chromatin interactions
ENSG00000106415	chromatin interactions
ENSG00000219545	chromatin interactions

Extended variants
information (count: 2074 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2074 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17169361	chr7:7704889-7704890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146369691	chr7:7704930-7704931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557927944	chr7:7704948-7704949	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576295352	chr7:7704958-7704959	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs543293128	chr7:7705031-7705032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7805802	chr7:7705071-7705072	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs6974820	chr7:7705139-7705140	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs541781454	chr7:7705176-7705177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577079351	chr7:7705213-7705214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386709956	chr7:7705233-7705234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4725014	chr7:7705236-7705237	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs58764359	chr7:7705242-7705243	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369936504	chr7:7705270-7705271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183232086	chr7:7705274-7705275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4720750	chr7:7705275-7705276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs550517009	chr7:7705322-7705323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568736283	chr7:7705329-7705330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75436076	chr7:7705359-7705360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186186294	chr7:7705362-7705363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565682191	chr7:7705370-7705371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148552961	chr7:7705373-7705374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551316808	chr7:7705376-7705377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142010092	chr7:7705382-7705383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190109494	chr7:7705413-7705414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560239054	chr7:7705452-7705453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555255422	chr7:7705454-7705455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573552955	chr7:7705461-7705462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150682007	chr7:7705473-7705474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527387024	chr7:7705488-7705489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs74968318	chr7:7705492-7705493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545450487	chr7:7705521-7705522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79651949	chr7:7705552-7705553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7793870	chr7:7705555-7705556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs564393559	chr7:7705588-7705589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114112165	chr7:7705617-7705618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543993464	chr7:7705646-7705647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562371593	chr7:7705682-7705683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139714574	chr7:7705695-7705696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547116900	chr7:7705732-7705733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149770899	chr7:7705750-7705751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532765279	chr7:7705765-7705766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182778267	chr7:7705769-7705770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569371859	chr7:7705771-7705772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536854445	chr7:7705772-7705773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548766342	chr7:7705776-7705777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187422695	chr7:7705777-7705778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs570789555	chr7:7705815-7705816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146878102	chr7:7705816-7705817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202129001	chr7:7705819-7705820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537705446	chr7:7705843-7705844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	17229543	CNVD
Ovarian cancer	21781307	CNVD
Gastric cancer	22014070	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:1203 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
2	chr7:7682000-7713800	Weak transcription	Left Ventricle	heart
3	chr7:7682200-7711600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr7:7687800-7717400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:7690600-7713800	Weak transcription	Fetal Intestine Large	intestine
6	chr7:7691800-7717600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:7692400-7717600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:7693000-7719200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:7693400-7714800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:7694800-7718400	Weak transcription	Ovary	ovary
11	chr7:7696600-7715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:7699200-7710000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:7699800-7715400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:7701400-7705800	Weak transcription	Gastric	stomach
15	chr7:7701400-7713600	Weak transcription	Thymus	Thymus
16	chr7:7702000-7717000	Weak transcription	Fetal Stomach	stomach
17	chr7:7702000-7717400	Weak transcription	Fetal Intestine Small	intestine
18	chr7:7702200-7715000	Weak transcription	Lung	lung
19	chr7:7702400-7715000	Weak transcription	Adipose Nuclei	Adipose
20	chr7:7702400-7715400	Weak transcription	Pancreas	Pancrea
21	chr7:7702400-7715800	Weak transcription	Spleen	Spleen
22	chr7:7702600-7711800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:7703400-7707000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:7703400-7726800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:7703800-7705200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:7704000-7705400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:7704000-7709800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:7704000-7710600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:7704200-7713600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:7704200-7717600	Weak transcription	Fetal Kidney	kidney
31	chr7:7704400-7706600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:7704400-7707000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:7704400-7710200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:7704400-7713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:7704400-7714200	Weak transcription	Fetal Lung	lung
36	chr7:7704400-7715200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:7704400-7715400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:7704400-7720800	Weak transcription	Stomach Mucosa	stomach
39	chr7:7704400-7721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:7704400-7726400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:7704600-7705600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:7705200-7705400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:7705400-7713600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:7705600-7711000	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:7705600-7713600	Weak transcription	Hela-S3	cervix
46	chr7:7705800-7706000	Enhancers	Esophagus	oesophagus
47	chr7:7705800-7706200	Enhancers	Gastric	stomach
48	chr7:7706000-7706200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr7:7706000-7715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:7706000-7715400	Weak transcription	Duodenum Mucosa	Duodenum

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