Variant report

Variant	esv2333221
Chromosome Location	chr7:22202554-22203060
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:

Extended variants
information (count: 23 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202171497	chr7:22202578-22202579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541996457	chr7:22202624-22202625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187133340	chr7:22202629-22202630	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555405025	chr7:22202654-22202655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556517965	chr7:22202663-22202664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576402445	chr7:22202689-22202690	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539356456	chr7:22202690-22202691	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572291827	chr7:22202696-22202697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142749655	chr7:22202721-22202722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572748555	chr7:22202751-22202752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs5882836	chr7:22202764-22202765	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201055333	chr7:22202767-22202768	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202215164	chr7:22202771-22202772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201990984	chr7:22202772-22202773	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375970177	chr7:22202838-22202839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376771595	chr7:22202839-22202840	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116368147	chr7:22202859-22202860	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562073196	chr7:22202871-22202872	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575669043	chr7:22202898-22202899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540893706	chr7:22202934-22202935	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115194677	chr7:22202939-22202940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564484959	chr7:22202980-22202981	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191652534	chr7:22203017-22203018	Weak transcription Strong transcription 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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:22159800-22214000	Weak transcription	Small Intestine	intestine
2	chr7:22176400-22203200	Weak transcription	Stomach Mucosa	stomach
3	chr7:22179600-22206600	Weak transcription	Fetal Stomach	stomach
4	chr7:22184600-22240600	Weak transcription	Colonic Mucosa	Colon
5	chr7:22187000-22204800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:22190000-22232800	Weak transcription	Aorta	Aorta
7	chr7:22192600-22208200	Strong transcription	Liver	Liver
8	chr7:22193600-22207800	Weak transcription	Placenta	Placenta
9	chr7:22193800-22232000	Weak transcription	Adipose Nuclei	Adipose
10	chr7:22194200-22202600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:22194200-22223200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:22194400-22218200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:22194400-22219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:22194400-22227200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:22194400-22232400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:22194600-22221200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:22195200-22204000	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr7:22196000-22204200	Strong transcription	Dnd41	blood
19	chr7:22196200-22213800	Weak transcription	GM12878-XiMat	blood
20	chr7:22196400-22213800	Weak transcription	Primary B cells from cord blood	blood
21	chr7:22196600-22213600	Weak transcription	HUVEC	blood vessel
22	chr7:22196600-22214000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:22196800-22216800	Weak transcription	Spleen	Spleen
24	chr7:22196800-22218000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:22197600-22206600	Weak transcription	Fetal Kidney	kidney
26	chr7:22197600-22213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:22197600-22213400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:22197600-22213400	Weak transcription	Thymus	Thymus
29	chr7:22197800-22206000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:22197800-22206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:22198000-22212800	Weak transcription	NHEK	skin
32	chr7:22198000-22223600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:22198200-22208000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr7:22198200-22212400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:22198400-22213400	Weak transcription	Esophagus	oesophagus
36	chr7:22199000-22205400	Weak transcription	Fetal Thymus	thymus
37	chr7:22199400-22204400	Weak transcription	HepG2	liver
38	chr7:22199400-22205800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:22199800-22219600	Weak transcription	Left Ventricle	heart
40	chr7:22200600-22205400	Weak transcription	Lung	lung
41	chr7:22200800-22205600	Weak transcription	Fetal Intestine Large	intestine
42	chr7:22201000-22204600	Enhancers	Brain Substantia Nigra	brain
43	chr7:22201000-22209200	Weak transcription	Fetal Intestine Small	intestine
44	chr7:22201200-22203600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr7:22201200-22205800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:22201400-22207800	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:22201600-22209600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr7:22201800-22202600	Strong transcription	Brain Anterior Caudate	brain
49	chr7:22202200-22202600	Strong transcription	Pancreas	Pancrea
50	chr7:22202400-22202600	Enhancers	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links