Variant report

Variant	esv3692934
Chromosome Location	chr7:83778360-83786460
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	chr7:83771843..83774813-chr7:83782378..83785250,2	K562	blood:

Extended variants
information (count: 328 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6978184	chr7:83778360-83778361	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202150991	chr7:83778362-83778363	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2372035	chr7:83778392-83778393	Flanking Active TSS Weak transcription Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10488271	chr7:83778444-83778445	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs193148971	chr7:83778476-83778477	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146831006	chr7:83778479-83778480	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73177479	chr7:83778509-83778510	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183569226	chr7:83778551-83778552	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73177481	chr7:83778559-83778560	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs574509375	chr7:83778565-83778566	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188512347	chr7:83778586-83778587	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553620933	chr7:83778592-83778593	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192216063	chr7:83778599-83778600	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545726932	chr7:83778621-83778622	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140337006	chr7:83778627-83778628	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531461026	chr7:83778637-83778638	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145463992	chr7:83778680-83778681	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560392831	chr7:83778722-83778723	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561716951	chr7:83778792-83778793	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs150998329	chr7:83778807-83778808	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547851818	chr7:83778876-83778877	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184048507	chr7:83778877-83778878	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs17301441	chr7:83778892-83778893	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188684665	chr7:83778922-83778923	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140896116	chr7:83778945-83778946	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538766633	chr7:83778981-83778982	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376108416	chr7:83779035-83779036	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376167831	chr7:83779040-83779041	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562606414	chr7:83779053-83779054	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6964747	chr7:83779063-83779064	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111354340	chr7:83779127-83779128	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201040384	chr7:83779244-83779245	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553829348	chr7:83779328-83779329	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571999427	chr7:83779349-83779350	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544633911	chr7:83779407-83779408	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539529857	chr7:83779483-83779484	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150079616	chr7:83779503-83779504	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191396176	chr7:83779549-83779550	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543289057	chr7:83779551-83779552	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561679965	chr7:83779560-83779561	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555187875	chr7:83779564-83779565	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541111517	chr7:83779587-83779588	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559708561	chr7:83779589-83779590	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564716445	chr7:83779598-83779599	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184541003	chr7:83779621-83779622	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6944814	chr7:83779626-83779627	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs566743169	chr7:83779627-83779628	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531165320	chr7:83779646-83779647	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374640875	chr7:83779659-83779660	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs202173575	chr7:83779660-83779661	Active TSS Weak transcription ZNF genes & repeats	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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83773000-83779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:83773200-83779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:83774000-83778600	Enhancers	Colon Smooth Muscle	Colon
5	chr7:83775400-83778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:83775400-83791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:83775600-83778600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:83775600-83779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:83775800-83778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:83776800-83778800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:83776800-83784800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:83777000-83778800	Weak transcription	A549	lung
13	chr7:83777000-83803000	Weak transcription	NHLF	lung
14	chr7:83777400-83778400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:83777600-83778400	Enhancers	Fetal Lung	lung
16	chr7:83777600-83778600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:83777600-83780000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83777800-83778400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:83777800-83779400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:83777800-83779600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:83777800-83780000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:83778000-83778400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:83778000-83780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:83778000-83803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:83778200-83778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:83778200-83778600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:83778200-83779200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:83778200-83779400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr7:83778400-83778800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:83778400-83778800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:83778400-83780000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr7:83778400-83780000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:83778400-83782200	Weak transcription	Fetal Lung	lung
34	chr7:83778600-83778800	Active TSS	H1 Cell Line	embryonic stem cell
35	chr7:83778600-83779000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:83778600-83779200	Enhancers	Rectal Smooth Muscle	rectum
37	chr7:83778600-83780000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:83778600-83784400	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:83778800-83779200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:83778800-83779200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr7:83778800-83779200	Enhancers	A549	lung
42	chr7:83778800-83779400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:83778800-83779600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:83778800-83780000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:83779000-83779200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:83779000-83780000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:83779200-83779600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:83779200-83780000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr7:83779200-83780000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr7:83779200-83780000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links