Variant report

Variant	esv3350798
Chromosome Location	chr7:8174587-8175021
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	chr7:8167235..8170008-chr7:8174877..8177246,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4725072	chr7:8174587-8174588	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs189587690	chr7:8174606-8174607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34086820	chr7:8174626-8174627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546317424	chr7:8174629-8174630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79625004	chr7:8174665-8174666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79914053	chr7:8174666-8174667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77151485	chr7:8174674-8174675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78041360	chr7:8174675-8174676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574617529	chr7:8174691-8174692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141555500	chr7:8174716-8174717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34500452	chr7:8174721-8174722	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs191995449	chr7:8174725-8174726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs55861459	chr7:8174738-8174739	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs564824852	chr7:8174747-8174748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs57141457	chr7:8174758-8174759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112668087	chr7:8174759-8174760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184595662	chr7:8174803-8174804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528459024	chr7:8174856-8174857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140552265	chr7:8174905-8174906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547524062	chr7:8174910-8174911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs559039320	chr7:8174912-8174913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35606742	chr7:8174923-8174924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111987275	chr7:8174947-8174948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182017370	chr7:8174949-8174950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs370764047	chr7:8174950-8174951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11983637	chr7:8174952-8174953	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs536825794	chr7:8174953-8174954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144396151	chr7:8174959-8174960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35988739	chr7:8174961-8174962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10215221	chr7:8174971-8174972	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:83)

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
Williams Syndrome	20824207	CNVD
Renal cell carcinoma	18194544	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8150600-8200000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr7:8152600-8183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:8155800-8185600	Weak transcription	Fetal Heart	heart
4	chr7:8159200-8186600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:8162000-8177400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:8162400-8192800	Weak transcription	Colonic Mucosa	Colon
7	chr7:8166000-8179600	Weak transcription	Right Ventricle	heart
8	chr7:8166000-8179800	Weak transcription	Gastric	stomach
9	chr7:8166000-8180200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:8166000-8180200	Weak transcription	Spleen	Spleen
11	chr7:8166000-8186600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:8167800-8179800	Weak transcription	Lung	lung
13	chr7:8167800-8192200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:8168000-8183200	Weak transcription	Left Ventricle	heart
15	chr7:8168400-8179800	Weak transcription	Pancreas	Pancrea
16	chr7:8168400-8180000	Weak transcription	Fetal Stomach	stomach
17	chr7:8168800-8179800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr7:8169200-8186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr7:8170000-8192000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:8170200-8175200	Enhancers	Fetal Thymus	thymus
21	chr7:8170200-8179800	Weak transcription	Fetal Intestine Small	intestine
22	chr7:8171800-8174600	Enhancers	Fetal Kidney	kidney
23	chr7:8172000-8175400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:8172000-8180000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr7:8172200-8174600	Enhancers	K562	blood
26	chr7:8172200-8175600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr7:8172400-8175000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:8172400-8187400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:8172400-8215800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:8172600-8175400	Enhancers	GM12878-XiMat	blood
31	chr7:8172600-8175800	Enhancers	Primary T cells from cord blood	blood
32	chr7:8172800-8175800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:8172800-8179800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr7:8172800-8180800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:8173000-8177400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:8173000-8188400	Weak transcription	Primary B cells from cord blood	blood
37	chr7:8173800-8174600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr7:8174000-8182800	Weak transcription	Adipose Nuclei	Adipose
39	chr7:8174000-8184600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:8174200-8175200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:8174200-8175400	Enhancers	Primary T cells fromperipheralblood	blood
42	chr7:8174200-8175400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:8174200-8175400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:8174200-8176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:8174400-8175200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:8174400-8175400	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr7:8174400-8175400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:8174400-8175600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:8174400-8176200	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr7:8174600-8175000	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links