Variant report

Variant	esv2761071
Chromosome Location	chr7:2811338-2822933
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:2815376..2818308-chr7:2821717..2825874,3	K562	blood:
2	chr7:2796032..2797990-chr7:2809805..2811746,2	K562	blood:
3	chr7:2795883..2797584-chr7:2821948..2824040,2	K562	blood:
4	chr7:2812694..2814409-chr7:2912696..2915342,2	K562	blood:
5	chr7:2796002..2800399-chr7:2810542..2814106,7	MCF-7	breast:
6	chr7:2797742..2801425-chr7:2817123..2820574,4	K562	blood:
7	chr7:2817688..2819427-chr7:2883217..2885058,2	MCF-7	breast:
8	chr7:2822854..2825744-chr7:2825933..2828348,2	MCF-7	breast:
9	chr7:2820643..2823632-chr7:2824452..2826703,2	K562	blood:
10	chr7:2810442..2813051-chr7:2815246..2817707,2	K562	blood:
11	chr7:2812131..2814669-chr7:2818641..2821283,2	MCF-7	breast:
12	chr7:2810431..2812589-chr7:2814723..2817684,2	K562	blood:
13	chr7:2815376..2818308-chr7:2821717..2825874,3	K562	blood:
14	chr7:2811026..2812536-chr7:2872365..2874848,2	MCF-7	breast:
15	chr7:2816808..2818862-chr7:2824374..2826830,2	K562	blood:
16	chr7:2812131..2814669-chr7:2818641..2821283,2	MCF-7	breast:
17	chr7:2810442..2813051-chr7:2815246..2817707,2	K562	blood:
18	chr7:2808555..2810059-chr7:2820256..2822497,2	MCF-7	breast:
19	chr7:2810431..2812589-chr7:2814723..2817684,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AMZ1-1	chr7:2814923-2815134	ENSG00000233202.1

No data

Variant related genes	Relation type
ENSG00000146535	chromatin interactions

Extended variants
information (count: 559 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:559 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193138366	chr7:2811345-2811346	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs111577616	chr7:2811347-2811348	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577508912	chr7:2811372-2811373	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs574814437	chr7:2811388-2811389	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531821094	chr7:2811408-2811409	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs551903785	chr7:2811410-2811411	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34459624	chr7:2811414-2811415	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs528026946	chr7:2811439-2811440	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112209395	chr7:2811449-2811450	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575308923	chr7:2811487-2811488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567296209	chr7:2811491-2811492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs1182206	chr7:2811543-2811544	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs549914509	chr7:2811556-2811557	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569688434	chr7:2811582-2811583	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538353913	chr7:2811617-2811618	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542474052	chr7:2811621-2811622	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572133756	chr7:2811662-2811663	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs150915183	chr7:2811669-2811670	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs554277511	chr7:2811680-2811681	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs79766348	chr7:2811700-2811701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs375347474	chr7:2811734-2811735	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574749839	chr7:2811753-2811754	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs139760802	chr7:2811754-2811755	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562843201	chr7:2811812-2811813	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs80043072	chr7:2811827-2811828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545161589	chr7:2811833-2811834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565506831	chr7:2811838-2811839	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs527857350	chr7:2811944-2811945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148365357	chr7:2811971-2811972	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111777573	chr7:2812009-2812010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201319869	chr7:2812018-2812019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs529719474	chr7:2812050-2812051	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs549851181	chr7:2812051-2812052	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190091960	chr7:2812058-2812059	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs139852240	chr7:2812074-2812075	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181156523	chr7:2812110-2812111	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532438251	chr7:2812111-2812112	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149700276	chr7:2812155-2812156	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540599458	chr7:2812193-2812194	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs60736477	chr7:2812206-2812207	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74986240	chr7:2812212-2812213	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184227122	chr7:2812235-2812236	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73049341	chr7:2812255-2812256	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs112963585	chr7:2812272-2812273	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556560061	chr7:2812280-2812281	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575942645	chr7:2812293-2812294	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373725013	chr7:2812303-2812304	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs576340221	chr7:2812328-2812329	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145452682	chr7:2812361-2812362	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs188123132	chr7:2812363-2812364	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Basal cell lymphoma	17053054	CNVD

Chromatin state (count:447 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:2789200-2831600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:2790000-2830400	Weak transcription	Aorta	Aorta
3	chr7:2797600-2831200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:2798000-2827400	Weak transcription	Thymus	Thymus
5	chr7:2799200-2817000	Weak transcription	Dnd41	blood
6	chr7:2799200-2827200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:2799600-2825600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:2800200-2815800	Weak transcription	Liver	Liver
9	chr7:2800800-2817200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:2800800-2818200	Weak transcription	Hela-S3	cervix
11	chr7:2801000-2812800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr7:2801000-2827600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:2801000-2829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:2801000-2831600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:2801000-2831600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:2802000-2813200	Weak transcription	HSMM	muscle
17	chr7:2802000-2813400	Weak transcription	Pancreas	Pancrea
18	chr7:2802000-2817200	Weak transcription	HSMMtube	muscle
19	chr7:2802200-2815800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr7:2802600-2826400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:2802800-2813200	Weak transcription	Esophagus	oesophagus
22	chr7:2803200-2813600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:2803200-2814600	Weak transcription	Fetal Brain Female	brain
24	chr7:2803200-2822600	Weak transcription	Right Ventricle	heart
25	chr7:2803400-2814200	Weak transcription	Fetal Thymus	thymus
26	chr7:2803400-2818000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:2803400-2818000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:2803400-2833400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:2803600-2814000	Weak transcription	Brain Substantia Nigra	brain
30	chr7:2803600-2814800	Weak transcription	NHEK	skin
31	chr7:2803600-2820800	Weak transcription	Fetal Heart	heart
32	chr7:2803600-2822200	Weak transcription	HUVEC	blood vessel
33	chr7:2803600-2822600	Weak transcription	Left Ventricle	heart
34	chr7:2803600-2824200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:2803600-2826800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr7:2803800-2813400	Weak transcription	Brain Hippocampus Middle	brain
37	chr7:2803800-2813400	Weak transcription	NHLF	lung
38	chr7:2803800-2813600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr7:2803800-2813600	Weak transcription	Osteobl	bone
40	chr7:2803800-2814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:2803800-2814200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:2803800-2814800	Weak transcription	Brain Angular Gyrus	brain
43	chr7:2803800-2815800	Weak transcription	Adipose Nuclei	Adipose
44	chr7:2803800-2816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr7:2803800-2818200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:2803800-2821000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:2803800-2823800	Weak transcription	NH-A	brain
48	chr7:2803800-2824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:2804400-2821200	Weak transcription	NHDF-Ad	bronchial
50	chr7:2804600-2814800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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