Variant report

Variant	esv3386868
Chromosome Location	chr7:27856698-27857228
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	chr7:27856504..27859420-chr7:27862843..27864597,2	K562	blood:
2	chr7:27701552..27704256-chr7:27856861..27858548,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568731759	chr7:27856718-27856719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112436273	chr7:27856752-27856753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548014865	chr7:27856753-27856754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566558379	chr7:27856759-27856760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533777090	chr7:27856770-27856771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556796386	chr7:27856776-27856777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558289561	chr7:27856781-27856782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570417287	chr7:27856833-27856834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568057462	chr7:27856849-27856850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17155879	chr7:27856877-27856878	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556150614	chr7:27856888-27856889	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs150750037	chr7:27856896-27856897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199888717	chr7:27857033-27857034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10267854	chr7:27857103-27857104	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs59134341	chr7:27857135-27857136	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs115280173	chr7:27857139-27857140	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs181208909	chr7:27857193-27857194	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Melanoma	18172304	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
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
2	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
4	chr7:27798600-27874000	Weak transcription	Brain Angular Gyrus	brain
5	chr7:27805800-27857600	Weak transcription	Esophagus	oesophagus
6	chr7:27806000-27882600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:27806400-27878600	Weak transcription	Right Ventricle	heart
8	chr7:27815600-27874000	Weak transcription	Pancreas	Pancrea
9	chr7:27823800-27878000	Weak transcription	Spleen	Spleen
10	chr7:27824200-27876800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:27825600-27874000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:27826000-27870000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:27827000-27881800	Weak transcription	Small Intestine	intestine
14	chr7:27827600-27878400	Weak transcription	Fetal Kidney	kidney
15	chr7:27833000-27858000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:27833600-27858400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:27834400-27873600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:27835200-27857600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr7:27835200-27878200	Weak transcription	Gastric	stomach
20	chr7:27836400-27867400	Weak transcription	HUVEC	blood vessel
21	chr7:27836400-27878000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:27836400-27882200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:27837000-27873800	Weak transcription	Psoas Muscle	Psoas
24	chr7:27837600-27857200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:27840000-27880600	Weak transcription	Hela-S3	cervix
26	chr7:27842400-27877800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:27843600-27877000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:27847600-27885200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:27848400-27871600	Weak transcription	HMEC	breast
30	chr7:27848400-27873400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:27848600-27868200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr7:27848600-27871000	Weak transcription	K562	blood
33	chr7:27849200-27873400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:27849800-27860200	Strong transcription	Primary T cells from cord blood	blood
35	chr7:27850200-27860000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr7:27850200-27860600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr7:27850200-27881400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:27850400-27861200	Strong transcription	Placenta	Placenta
39	chr7:27851200-27863800	Strong transcription	Liver	Liver
40	chr7:27851400-27860800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:27851600-27857000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:27851800-27859600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr7:27852200-27862600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:27852800-27858400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:27853000-27868800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr7:27853200-27857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:27853200-27861000	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr7:27853400-27857600	Weak transcription	Fetal Lung	lung
49	chr7:27853400-27860400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr7:27853400-27864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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