Variant report

Variant	esv2757216
Chromosome Location	chr7:17082894-17105100
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:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:17100496..17103422-chr7:17133231..17136201,2	MCF-7	breast:
2	chr7:17101013..17102818-chr7:17107864..17110439,2	MCF-7	breast:
3	chr7:17082436..17084513-chr7:17337542..17339848,2	MCF-7	breast:
4	chr7:17095846..17098605-chr7:17101734..17104493,2	MCF-7	breast:
5	chr7:17095846..17098605-chr7:17101734..17104493,2	MCF-7	breast:
6	chr7:17079412..17081235-chr7:17083345..17084902,2	K562	blood:
7	chr7:17102519..17103019-chr7:17570516..17571366,2	MCF-7	breast:
8	chr7:17101748..17103793-chr7:17132668..17134988,2	MCF-7	breast:
9	chr7:17082649..17084895-chr7:17336676..17339527,2	MCF-7	breast:
10	chr7:17102437..17103359-chr7:17340354..17341360,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AHR-6	chr7:17092504-17093105	NONHSAT119314

No data

Variant related genes	Relation type
ENSG00000237773	chromatin interactions
ENSG00000106546	chromatin interactions

Extended variants
information (count: 1002 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4721562	chr7:17082894-17082895	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187007461	chr7:17082895-17082896	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs193156753	chr7:17082915-17082916	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs371181826	chr7:17082973-17082974	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375473723	chr7:17082999-17083000	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs534233764	chr7:17083045-17083046	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185057411	chr7:17083057-17083058	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs189116086	chr7:17083098-17083099	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201800747	chr7:17083107-17083108	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143627594	chr7:17083112-17083113	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11973459	chr7:17083113-17083114	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs562853496	chr7:17083115-17083116	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559129868	chr7:17083117-17083118	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs200891999	chr7:17083132-17083133	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562072654	chr7:17083135-17083136	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs574335702	chr7:17083137-17083138	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545459111	chr7:17083139-17083140	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564143173	chr7:17083146-17083147	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs578589	chr7:17083150-17083151	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs561677792	chr7:17083151-17083152	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376833049	chr7:17083153-17083154	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139835321	chr7:17083166-17083167	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs139197776	chr7:17083170-17083171	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs546583580	chr7:17083174-17083175	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs561694408	chr7:17083199-17083200	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs56108006	chr7:17083206-17083207	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113406695	chr7:17083218-17083219	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs550196811	chr7:17083226-17083227	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs188318324	chr7:17083230-17083231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs539173615	chr7:17083270-17083271	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551415220	chr7:17083283-17083284	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566955368	chr7:17083291-17083292	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs114913527	chr7:17083318-17083319	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555985647	chr7:17083350-17083351	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112185563	chr7:17083364-17083365	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs538515471	chr7:17083365-17083366	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs180706820	chr7:17083379-17083380	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs187399412	chr7:17083399-17083400	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184003011	chr7:17083405-17083406	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545184188	chr7:17083487-17083488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs560589918	chr7:17083488-17083489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs571284031	chr7:17083494-17083495	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189467454	chr7:17083506-17083507	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs182053152	chr7:17083534-17083535	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372242556	chr7:17083539-17083540	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs557442218	chr7:17083540-17083541	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs72508206	chr7:17083544-17083545	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544065826	chr7:17083546-17083547	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs138292524	chr7:17083592-17083593	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532892909	chr7:17083598-17083599	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17073200-17084400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:17077200-17084600	Enhancers	Hela-S3	cervix
3	chr7:17077600-17085200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:17077800-17083200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:17078000-17083000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:17078400-17083200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:17079400-17084200	Weak transcription	Placenta	Placenta
8	chr7:17079800-17083000	Enhancers	Fetal Brain Male	brain
9	chr7:17080200-17083800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:17080400-17083000	Enhancers	Fetal Brain Female	brain
11	chr7:17080400-17083200	Enhancers	Dnd41	blood
12	chr7:17080400-17083800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:17080400-17084400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:17080400-17085200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:17080800-17083000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:17080800-17083000	Enhancers	HMEC	breast
17	chr7:17080800-17083200	Enhancers	NHEK	skin
18	chr7:17080800-17084800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:17081000-17083000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:17081000-17083000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:17081000-17083000	Enhancers	Adipose Nuclei	Adipose
22	chr7:17081000-17083200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:17081000-17085000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr7:17081200-17083000	Enhancers	HepG2	liver
25	chr7:17081200-17084000	Weak transcription	K562	blood
26	chr7:17081400-17083000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:17081400-17083000	Enhancers	HSMM	muscle
28	chr7:17081400-17085200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:17081400-17085200	Enhancers	HUVEC	blood vessel
30	chr7:17081400-17086200	Weak transcription	Liver	Liver
31	chr7:17081600-17083600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:17081600-17084800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr7:17081800-17083400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr7:17082000-17083800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:17082000-17084200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:17082200-17083600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:17082400-17083600	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr7:17082400-17083800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:17082400-17083800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:17082600-17083000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:17082600-17083000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr7:17082600-17083000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:17082600-17083000	Enhancers	Brain Substantia Nigra	brain
44	chr7:17082600-17083000	Enhancers	Duodenum Mucosa	Duodenum
45	chr7:17082600-17083000	Flanking Active TSS	Fetal Lung	lung
46	chr7:17082600-17083000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr7:17082600-17083000	Flanking Active TSS	A549	lung
48	chr7:17082600-17083000	Flanking Active TSS	NHDF-Ad	bronchial
49	chr7:17082600-17083000	Flanking Active TSS	NHLF	lung
50	chr7:17082600-17083200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links