Variant report

Variant	nsv971131
Chromosome Location	chr7:22204988-22208217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:22202886..22205494-chr7:22212992..22215483,2	MCF-7	breast:
2	chr7:22126975..22127635-chr7:22207296..22208281,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369387644	chr7:22205011-22205012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569050387	chr7:22205054-22205055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373914838	chr7:22205065-22205066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557963177	chr7:22205101-22205102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77683023	chr7:22205151-22205152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181716273	chr7:22205182-22205183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377379466	chr7:22205235-22205236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79845539	chr7:22205256-22205257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574023791	chr7:22205263-22205264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17146347	chr7:22205282-22205283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117708895	chr7:22205318-22205319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149324730	chr7:22205390-22205391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185633547	chr7:22205424-22205425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552160560	chr7:22205443-22205444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1419757	chr7:22205499-22205500	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs1419758	chr7:22205541-22205542	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540324247	chr7:22205575-22205576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146170776	chr7:22205587-22205588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369581025	chr7:22205613-22205614	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528926166	chr7:22205639-22205640	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6965976	chr7:22205696-22205697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201806238	chr7:22205700-22205701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569163880	chr7:22205709-22205710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370720102	chr7:22205750-22205751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551667115	chr7:22205797-22205798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566697328	chr7:22205802-22205803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533930317	chr7:22205811-22205812	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201999340	chr7:22205815-22205816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190140837	chr7:22205952-22205953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs137877999	chr7:22205979-22205980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536677769	chr7:22205984-22205985	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142382712	chr7:22206069-22206070	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375102071	chr7:22206085-22206086	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575991826	chr7:22206104-22206105	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538954152	chr7:22206209-22206210	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs181038280	chr7:22206226-22206227	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs145964886	chr7:22206283-22206284	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs541258246	chr7:22206287-22206288	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs560230562	chr7:22206301-22206302	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573636552	chr7:22206388-22206389	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs117615396	chr7:22206431-22206432	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs562483754	chr7:22206440-22206441	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs4590334	chr7:22206467-22206468	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528066664	chr7:22206471-22206472	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551705761	chr7:22206484-22206485	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs370423275	chr7:22206499-22206500	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs571147983	chr7:22206522-22206523	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs533002144	chr7:22206576-22206577	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs565166135	chr7:22206631-22206632	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367801763	chr7:22206636-22206637	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Endometrioid adenocarcinoma	16974079	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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Follicular lymphoma	20505157	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22159800-22214000	Weak transcription	Small Intestine	intestine
2	chr7:22179600-22206600	Weak transcription	Fetal Stomach	stomach
3	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
4	chr7:22190000-22232800	Weak transcription	Aorta	Aorta
5	chr7:22192600-22208200	Strong transcription	Liver	Liver
6	chr7:22193600-22207800	Weak transcription	Placenta	Placenta
7	chr7:22193800-22232000	Weak transcription	Adipose Nuclei	Adipose
8	chr7:22194200-22223200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:22194400-22218200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:22194400-22219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:22194400-22227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:22194400-22232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:22194600-22221200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:22196200-22213800	Weak transcription	GM12878-XiMat	blood
15	chr7:22196400-22213800	Weak transcription	Primary B cells from cord blood	blood
16	chr7:22196600-22213600	Weak transcription	HUVEC	blood vessel
17	chr7:22196600-22214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:22196800-22216800	Weak transcription	Spleen	Spleen
19	chr7:22196800-22218000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:22197600-22206600	Weak transcription	Fetal Kidney	kidney
21	chr7:22197600-22213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:22197600-22213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:22197600-22213400	Weak transcription	Thymus	Thymus
24	chr7:22197800-22206000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:22197800-22206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:22198000-22212800	Weak transcription	NHEK	skin
27	chr7:22198000-22223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:22198200-22208000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:22198200-22212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:22198400-22213400	Weak transcription	Esophagus	oesophagus
31	chr7:22199000-22205400	Weak transcription	Fetal Thymus	thymus
32	chr7:22199400-22205800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:22199800-22219600	Weak transcription	Left Ventricle	heart
34	chr7:22200600-22205400	Weak transcription	Lung	lung
35	chr7:22200800-22205600	Weak transcription	Fetal Intestine Large	intestine
36	chr7:22201000-22209200	Weak transcription	Fetal Intestine Small	intestine
37	chr7:22201200-22205800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:22201400-22207800	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:22201600-22209600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr7:22202600-22206000	Weak transcription	Brain Angular Gyrus	brain
41	chr7:22202600-22212600	Weak transcription	Brain Anterior Caudate	brain
42	chr7:22203400-22205800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:22204000-22206000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr7:22204000-22209200	Weak transcription	Pancreas	Pancrea
45	chr7:22204000-22214000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr7:22204400-22207600	Strong transcription	HepG2	liver
47	chr7:22204600-22207400	Weak transcription	Brain Substantia Nigra	brain
48	chr7:22204800-22209000	Strong transcription	Dnd41	blood
49	chr7:22205400-22205800	Strong transcription	Lung	lung
50	chr7:22205400-22206800	Strong transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links