Variant report

Variant	esv3438583
Chromosome Location	chr7:99894666-99895814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544076133	chr7:99894666-99894667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542531844	chr7:99894704-99894705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545214660	chr7:99894761-99894762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562423416	chr7:99894848-99894849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111230138	chr7:99894849-99894850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112192370	chr7:99894850-99894851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191128080	chr7:99894851-99894852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556090716	chr7:99894863-99894864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549203612	chr7:99894876-99894877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549465333	chr7:99894888-99894889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549231383	chr7:99894895-99894896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182756125	chr7:99894901-99894902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111518724	chr7:99894913-99894914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561241355	chr7:99894914-99894915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375554798	chr7:99894918-99894919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113965123	chr7:99894926-99894927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531191884	chr7:99894939-99894940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113667434	chr7:99894941-99894942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187722367	chr7:99894944-99894945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569514543	chr7:99894955-99894956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549491519	chr7:99894960-99894961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571004608	chr7:99894961-99894962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142473518	chr7:99894971-99894972	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs112291385	chr7:99894972-99894973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554079110	chr7:99894977-99894978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566237776	chr7:99894985-99894986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536435824	chr7:99894991-99894992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375005623	chr7:99894992-99894993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536562226	chr7:99894993-99894994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367650494	chr7:99895051-99895052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545102655	chr7:99895055-99895056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555230145	chr7:99895087-99895088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576535865	chr7:99895088-99895089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543837154	chr7:99895089-99895090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559134794	chr7:99895113-99895114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577424972	chr7:99895150-99895151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541468420	chr7:99895152-99895153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560110742	chr7:99895177-99895178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527446065	chr7:99895216-99895217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191386310	chr7:99895279-99895280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111344110	chr7:99895309-99895310	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs111727847	chr7:99895331-99895332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549354920	chr7:99895344-99895345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570867460	chr7:99895398-99895399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187031549	chr7:99895412-99895413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547437030	chr7:99895415-99895416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566178315	chr7:99895470-99895471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57310628	chr7:99895485-99895486	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs376746469	chr7:99895490-99895491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548649442	chr7:99895556-99895557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99870200-99916800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:99870200-99932800	Weak transcription	Ovary	ovary
3	chr7:99870400-99901600	Weak transcription	Thymus	Thymus
4	chr7:99870400-99904600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:99870400-99917000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:99870400-99917000	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:99870400-99917600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:99870400-99923400	Weak transcription	Fetal Intestine Large	intestine
9	chr7:99870400-99932600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:99870600-99898800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:99870600-99904600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:99870600-99916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:99870600-99923400	Weak transcription	Spleen	Spleen
14	chr7:99870600-99926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:99870600-99932800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:99870800-99904600	Weak transcription	Dnd41	blood
17	chr7:99871000-99917000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:99871000-99923000	Weak transcription	Brain Germinal Matrix	brain
19	chr7:99874400-99932800	Weak transcription	Brain Angular Gyrus	brain
20	chr7:99880400-99917800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr7:99882000-99903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:99882200-99897200	Weak transcription	Primary T cells from cord blood	blood
23	chr7:99884400-99916000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:99885400-99895400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:99885600-99896000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:99886800-99901600	Weak transcription	Fetal Stomach	stomach
27	chr7:99887000-99895800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:99887400-99932800	Weak transcription	Brain Anterior Caudate	brain
29	chr7:99889400-99915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:99890200-99914200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:99890400-99901000	Weak transcription	Fetal Thymus	thymus
32	chr7:99890400-99917000	Weak transcription	Fetal Brain Female	brain
33	chr7:99892800-99901800	Weak transcription	Fetal Intestine Small	intestine
34	chr7:99893600-99895600	Weak transcription	K562	blood
35	chr7:99893600-99914200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr7:99893600-99917000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:99893600-99917800	Weak transcription	Lung	lung
38	chr7:99893600-99918000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:99894200-99895600	Weak transcription	HepG2	liver
40	chr7:99895400-99896400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr7:99895600-99896600	Enhancers	K562	blood
42	chr7:99895600-99897000	Enhancers	HepG2	liver
43	chr7:99895800-99896600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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