Variant report

Variant	esv3326230
Chromosome Location	chr7:122371941-122373964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570605636	chr7:122371973-122371974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187545395	chr7:122372024-122372025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192121007	chr7:122372036-122372037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544208165	chr7:122372051-122372052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374026812	chr7:122372092-122372093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560842133	chr7:122372168-122372169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529831842	chr7:122372181-122372182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546635165	chr7:122372183-122372184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185107756	chr7:122372196-122372197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532333021	chr7:122372245-122372246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552228642	chr7:122372287-122372288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115622760	chr7:122372311-122372312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4642559	chr7:122372334-122372335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190553514	chr7:122372348-122372349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117461769	chr7:122372350-122372351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73222408	chr7:122372357-122372358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs73222409	chr7:122372380-122372381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573402008	chr7:122372397-122372398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149663950	chr7:122372399-122372400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78114414	chr7:122372438-122372439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12706436	chr7:122372446-122372447	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544888269	chr7:122372480-122372481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142800889	chr7:122372496-122372497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538987009	chr7:122372544-122372545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112404543	chr7:122372618-122372619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574440354	chr7:122372696-122372697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559199020	chr7:122372731-122372732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12674113	chr7:122372783-122372784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181023413	chr7:122372851-122372852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57267990	chr7:122372858-122372859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57887153	chr7:122372865-122372866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56929407	chr7:122372871-122372872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532240649	chr7:122372877-122372878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58597041	chr7:122372879-122372880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs60986310	chr7:122372884-122372885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562312262	chr7:122372924-122372925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111337734	chr7:122372964-122372965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147604371	chr7:122372983-122372984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554632933	chr7:122373019-122373020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142171999	chr7:122373028-122373029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530100935	chr7:122373084-122373085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546814661	chr7:122373111-122373112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566938372	chr7:122373159-122373160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538732303	chr7:122373169-122373170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184544190	chr7:122373227-122373228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569435123	chr7:122373238-122373239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538542850	chr7:122373294-122373295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555298207	chr7:122373390-122373391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189071347	chr7:122373403-122373404	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs371489710	chr7:122373424-122373425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:122359600-122376000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:122359600-122376200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:122359800-122375000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:122365600-122376200	Weak transcription	Fetal Kidney	kidney
5	chr7:122366000-122384200	Weak transcription	Pancreas	Pancrea
6	chr7:122367200-122373600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:122368200-122378800	Weak transcription	Stomach Mucosa	stomach
8	chr7:122369200-122377400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:122371800-122374800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:122371800-122374800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:122372000-122386600	Weak transcription	Ovary	ovary
12	chr7:122373000-122373600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:122373400-122373800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr7:122373600-122373800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr7:122373600-122374000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr7:122373600-122374000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:122373600-122374000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
18	chr7:122373800-122375000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:122373800-122376200	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links