Variant report

Variant	esv3326792
Chromosome Location	chr7:85017350-85040698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 391 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577272530	chr7:85017810-85017811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552340808	chr7:85017838-85017839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191916359	chr7:85017850-85017851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183026561	chr7:85017860-85017861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374786362	chr7:85017881-85017882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562946637	chr7:85017955-85017956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2463477	chr7:85017968-85017969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs548933453	chr7:85018000-85018001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2435267	chr7:85018017-85018018	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs368544240	chr7:85018024-85018025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560780508	chr7:85018074-85018075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187355982	chr7:85018086-85018087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552739032	chr7:85018153-85018154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115389874	chr7:85018165-85018166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs370205467	chr7:85018207-85018208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544120244	chr7:85018285-85018286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2049671	chr7:85018286-85018287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs7805322	chr7:85018318-85018319	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546413158	chr7:85018334-85018335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372256029	chr7:85018353-85018354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554110449	chr7:85018411-85018412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190210787	chr7:85018415-85018416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182473776	chr7:85018442-85018443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2049670	chr7:85018471-85018472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs528602982	chr7:85018482-85018483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546375648	chr7:85018505-85018506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576960686	chr7:85018524-85018525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544719706	chr7:85018547-85018548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116295281	chr7:85018652-85018653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574951202	chr7:85018685-85018686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542262618	chr7:85018701-85018702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187916940	chr7:85018717-85018718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527996172	chr7:85018731-85018732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574977751	chr7:85018750-85018751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552582829	chr7:85018767-85018768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528503345	chr7:85018773-85018774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192207964	chr7:85018778-85018779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11773007	chr7:85018779-85018780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs550688288	chr7:85018780-85018781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185691786	chr7:85018789-85018790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150251313	chr7:85018790-85018791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188947340	chr7:85018797-85018798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547786277	chr7:85018800-85018801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115457164	chr7:85018802-85018803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534138339	chr7:85018857-85018858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150675573	chr7:85018926-85018927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375332366	chr7:85018941-85018942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570659406	chr7:85018983-85018984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192514525	chr7:85018987-85018988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369890078	chr7:85019024-85019025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:85017800-85018200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:85018200-85021600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:85021600-85022000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:85021600-85022000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:85021600-85022000	Enhancers	Adipose Nuclei	Adipose
6	chr7:85021600-85022200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:85021600-85022200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:85021600-85022200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:85021600-85022200	Enhancers	Fetal Intestine Large	intestine
10	chr7:85021600-85022200	Enhancers	Fetal Intestine Small	intestine
11	chr7:85022000-85022400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:85022000-85022400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:85022200-85025800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:85022400-85024600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:85024000-85025800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:85024200-85024600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:85024600-85024800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:85024600-85026200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:85025800-85026600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr7:85025800-85026600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:85025800-85026800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:85025800-85027000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:85025800-85027000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:85025800-85027400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:85026000-85026200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr7:85026000-85027000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:85026200-85026400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:85026600-85027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:85026800-85027000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:85027400-85027600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr7:85034600-85035000	Enhancers	NHDF-Ad	bronchial
32	chr7:85040600-85040800	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links