Variant report

Variant	esv3398897
Chromosome Location	chr7:121379666-121381964
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	chr7:121377905..121379517-chr7:121381874..121383801,2	K562	blood:
2	chr7:121373782..121376223-chr7:121380019..121382572,2	MCF-7	breast:

Extended variants
information (count: 129 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11982036	chr7:121379681-121379682	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs386717325	chr7:121379705-121379706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200493241	chr7:121379706-121379707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs55840190	chr7:121379711-121379712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs56087642	chr7:121379713-121379714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572673268	chr7:121379714-121379715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567856205	chr7:121379776-121379777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191576109	chr7:121379823-121379824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544722771	chr7:121379824-121379825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151260649	chr7:121379842-121379843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77683634	chr7:121379879-121379880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550599457	chr7:121379885-121379886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141524439	chr7:121379915-121379916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530423377	chr7:121379974-121379975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182575151	chr7:121379975-121379976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57178887	chr7:121379995-121379996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs147071313	chr7:121380001-121380002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116389935	chr7:121380011-121380012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569379612	chr7:121380062-121380063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138406130	chr7:121380071-121380072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377464005	chr7:121380088-121380089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142405257	chr7:121380135-121380136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568317736	chr7:121380177-121380178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186309702	chr7:121380182-121380183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150246480	chr7:121380194-121380195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138871409	chr7:121380199-121380200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567132985	chr7:121380238-121380239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544835062	chr7:121380243-121380244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575126361	chr7:121380246-121380247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374181326	chr7:121380255-121380256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150838525	chr7:121380261-121380262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575339542	chr7:121380312-121380313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56153345	chr7:121380360-121380361	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560959260	chr7:121380389-121380390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529621681	chr7:121380425-121380426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201266899	chr7:121380432-121380433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73431198	chr7:121380435-121380436	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs199806931	chr7:121380451-121380452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201232072	chr7:121380453-121380454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59240558	chr7:121380454-121380455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10215448	chr7:121380455-121380456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112964054	chr7:121380456-121380457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10215449	chr7:121380457-121380458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552843980	chr7:121380459-121380460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201986110	chr7:121380465-121380466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200887105	chr7:121380466-121380467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200242483	chr7:121380467-121380468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201962056	chr7:121380468-121380469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200562828	chr7:121380470-121380471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146238191	chr7:121380482-121380483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Renal cell carcinoma	18194544	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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121376600-121381400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:121377000-121381200	Weak transcription	NHEK	skin
3	chr7:121379200-121379800	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr7:121379200-121379800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:121379200-121380000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:121379200-121380000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:121379200-121380000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:121379400-121379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:121379400-121379800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:121379400-121379800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:121379400-121380000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:121379600-121379800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:121379600-121380000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:121379600-121382000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:121380000-121380200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:121380000-121381200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:121380000-121390800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:121380200-121381400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr7:121381000-121383600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:121381200-121383400	Enhancers	NHEK	skin
21	chr7:121381200-121386200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:121381400-121382200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:121381400-121383600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:121381400-121386400	Enhancers	HMEC	breast
25	chr7:121381800-121382600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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