Variant report

Variant	esv32555
Chromosome Location	chr7:7986944-7988232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:7987002..7988972-chr7:8001307..8003918,2	K562	blood:
2	chr7:7982231..7984516-chr7:7984634..7987020,2	MCF-7	breast:
3	chr7:7985394..7987246-chr7:8007323..8009239,2	K562	blood:

Variant related genes	Relation type
ENSG00000106415	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556641525	chr7:7986966-7986967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574866386	chr7:7986971-7986972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542232312	chr7:7987036-7987037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554179975	chr7:7987086-7987087	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573034748	chr7:7987093-7987094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540569567	chr7:7987104-7987105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543869355	chr7:7987107-7987108	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532341971	chr7:7987129-7987130	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs17140599	chr7:7987137-7987138	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs529192925	chr7:7987139-7987140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140830325	chr7:7987145-7987146	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181735975	chr7:7987200-7987201	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145750915	chr7:7987345-7987346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187179162	chr7:7987353-7987354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561361107	chr7:7987359-7987360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs77319294	chr7:7987387-7987388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377756355	chr7:7987388-7987389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547312007	chr7:7987414-7987415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571702633	chr7:7987534-7987535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547520217	chr7:7987587-7987588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538868610	chr7:7987643-7987644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550227504	chr7:7987667-7987668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568597728	chr7:7987670-7987671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144743095	chr7:7987728-7987729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146766823	chr7:7987810-7987811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575122399	chr7:7987819-7987820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551043537	chr7:7987853-7987854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs79686164	chr7:7987871-7987872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372588996	chr7:7987876-7987877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577081595	chr7:7987884-7987885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs10255002	chr7:7987940-7987941	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs562705957	chr7:7987948-7987949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6961526	chr7:7987993-7987994	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377607937	chr7:7987998-7987999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10224801	chr7:7988012-7988013	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561116369	chr7:7988048-7988049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528490739	chr7:7988074-7988075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536621978	chr7:7988085-7988086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12670535	chr7:7988091-7988092	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs192106870	chr7:7988128-7988129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs35657099	chr7:7988187-7988188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs6947392	chr7:7988212-7988213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:82)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7984200-7987200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:7984400-7995600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:7984400-7996200	Weak transcription	Left Ventricle	heart
4	chr7:7984800-7996800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr7:7985000-7987000	Enhancers	Thymus	Thymus
6	chr7:7985000-7991200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:7985000-8003800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:7985400-8007600	Weak transcription	Psoas Muscle	Psoas
9	chr7:7985600-7990400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:7985800-7990200	Enhancers	Dnd41	blood
11	chr7:7986400-7989200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr7:7986800-7987800	Weak transcription	Placenta	Placenta
13	chr7:7986800-7990200	Weak transcription	Fetal Thymus	thymus
14	chr7:7986800-7994000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:7986800-8007800	Weak transcription	Ovary	ovary
16	chr7:7987000-7995000	Weak transcription	Thymus	Thymus
17	chr7:7987200-7989800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:7987800-7988000	Enhancers	Fetal Intestine Large	intestine
19	chr7:7987800-7988000	Enhancers	Fetal Intestine Small	intestine
20	chr7:7987800-7988000	Enhancers	Placenta	Placenta
21	chr7:7988000-7989000	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links