Variant report

Variant	nsv887807
Chromosome Location	chr7:17720481-17750811
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17746042..17747026-chr7:18385012..18385946,4	K562	blood:
2	chr7:17728037..17729747-chr7:17732682..17734758,2	MCF-7	breast:
3	chr7:17745871..17747109-chr7:18385010..18385969,4	MCF-7	breast:
4	chr7:17720091..17721114-chr7:17746094..17746756,4	MCF-7	breast:
5	chr7:17720220..17720870-chr7:20637924..20638671,2	K562	blood:
6	chr7:17728037..17729747-chr7:17732682..17734758,2	MCF-7	breast:
7	chr7:17745365..17747517-chr7:17981149..17983188,2	K562	blood:
8	chr7:17746083..17746632-chr7:18359954..18360927,2	MCF-7	breast:
9	chr7:17746176..17747035-chr7:17809147..17809719,2	MCF-7	breast:
10	chr17:59488041..59490128-chr7:17728518..17731177,2	MCF-7	breast:
11	chr7:17736978..17739802-chr7:17741420..17743141,2	MCF-7	breast:
12	chr7:17720091..17721114-chr7:17746094..17746756,4	MCF-7	breast:
13	chr7:17718921..17722454-chr7:17736186..17738683,3	MCF-7	breast:
14	chr7:17736978..17739802-chr7:17741420..17743141,2	MCF-7	breast:
15	chr7:17712355..17715598-chr7:17735050..17738524,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187013	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000228675	chromatin interactions

Extended variants
information (count: 1259 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6974540	chr7:17720481-17720482	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60990530	chr7:17720485-17720486	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs575146453	chr7:17720529-17720530	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546461327	chr7:17720534-17720535	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182365816	chr7:17720566-17720567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs185216690	chr7:17720573-17720574	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs528659335	chr7:17720591-17720592	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs540466926	chr7:17720644-17720645	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561956022	chr7:17720645-17720646	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs4719516	chr7:17720660-17720661	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs59301770	chr7:17720666-17720667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189641878	chr7:17720672-17720673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs77556056	chr7:17720693-17720694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs148067117	chr7:17720725-17720726	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374319866	chr7:17720742-17720743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs141725870	chr7:17720770-17720771	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs534923422	chr7:17720786-17720787	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553155099	chr7:17720819-17720820	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568282192	chr7:17720838-17720839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs535498827	chr7:17720839-17720840	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566801000	chr7:17720843-17720844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs36083589	chr7:17720868-17720869	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs554257314	chr7:17720900-17720901	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs79043045	chr7:17720946-17720947	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150147109	chr7:17720948-17720949	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs538964414	chr7:17720958-17720959	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs367837382	chr7:17720993-17720994	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs558701229	chr7:17721002-17721003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12112560	chr7:17721075-17721076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs4721645	chr7:17721090-17721091	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs555037562	chr7:17721151-17721152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138760108	chr7:17721179-17721180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs56048696	chr7:17721181-17721182	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs529463909	chr7:17721221-17721222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368151838	chr7:17721256-17721257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs180712887	chr7:17721266-17721267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142053382	chr7:17721292-17721293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs533349605	chr7:17721329-17721330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185495910	chr7:17721336-17721337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566873304	chr7:17721341-17721342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528366161	chr7:17721365-17721366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs546931753	chr7:17721385-17721386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568245275	chr7:17721398-17721399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146345261	chr7:17721487-17721488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139514472	chr7:17721570-17721571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568900469	chr7:17721580-17721581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4721646	chr7:17721584-17721585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540610923	chr7:17721592-17721593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557285480	chr7:17721610-17721611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572529511	chr7:17721611-17721612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17713000-17722000	Enhancers	HMEC	breast
2	chr7:17714000-17720800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:17716400-17723400	Enhancers	NHLF	lung
4	chr7:17717000-17722600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr7:17717200-17721000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:17717200-17722600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:17717400-17722600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:17717800-17720800	Weak transcription	Fetal Lung	lung
9	chr7:17718400-17722000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr7:17718400-17723600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:17718800-17722800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:17719200-17720600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:17719200-17720600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:17719200-17720800	Enhancers	Hela-S3	cervix
15	chr7:17719200-17721000	Enhancers	Adipose Nuclei	Adipose
16	chr7:17719200-17723000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:17719400-17720600	Enhancers	Duodenum Mucosa	Duodenum
18	chr7:17719400-17720600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:17719400-17720600	Flanking Active TSS	A549	lung
20	chr7:17719400-17720600	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr7:17719600-17720800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:17719600-17727800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:17719800-17720800	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:17719800-17720800	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:17719800-17720800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:17719800-17720800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:17719800-17722600	Enhancers	HSMM	muscle
28	chr7:17719800-17722800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:17720000-17721000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:17720000-17721000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:17720000-17721000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:17720000-17721000	Flanking Active TSS	NHDF-Ad	bronchial
33	chr7:17720000-17721800	Enhancers	HSMMtube	muscle
34	chr7:17720000-17722000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:17720000-17722000	Weak transcription	Right Atrium	heart
36	chr7:17720200-17720600	Weak transcription	Ovary	ovary
37	chr7:17720200-17723600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr7:17720200-17723600	Enhancers	Osteobl	bone
39	chr7:17720200-17723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:17720400-17722200	Enhancers	NHEK	skin
41	chr7:17720400-17722400	Enhancers	NH-A	brain
42	chr7:17720600-17720800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:17720600-17720800	Weak transcription	Fetal Kidney	kidney
44	chr7:17720600-17721000	Enhancers	Stomach Mucosa	stomach
45	chr7:17720600-17721200	Enhancers	Ovary	ovary
46	chr7:17720600-17723800	Enhancers	A549	lung
47	chr7:17720800-17721000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:17720800-17721000	Enhancers	Brain Anterior Caudate	brain
49	chr7:17720800-17721000	Enhancers	Brain Hippocampus Middle	brain
50	chr7:17720800-17721000	Enhancers	Colon Smooth Muscle	Colon

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