Variant report

Variant	esv1805252
Chromosome Location	chr7:139347318-139370544
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:139364228..139365151-chr7:139441388..139442110,4	MCF-7	breast:
2	chr7:139345806..139348454-chr7:139352511..139354719,2	K562	blood:
3	chr7:139360174..139362351-chr7:139371364..139373492,2	K562	blood:
4	chr7:139363526..139365603-chr7:139373360..139375290,2	MCF-7	breast:
5	chr7:139365162..139367836-chr7:139370460..139372347,2	MCF-7	breast:
6	chr7:139345806..139348454-chr7:139352511..139354719,2	K562	blood:
7	chr7:139365609..139367384-chr7:139442603..139444246,2	K562	blood:
8	chr7:139351469..139353425-chr7:139364927..139366585,2	K562	blood:
9	chr7:139343281..139345522-chr7:139365471..139367304,2	K562	blood:
10	chr7:139366641..139370026-chr7:139370372..139373414,3	K562	blood:
11	chr7:139366641..139370026-chr7:139370372..139373414,3	K562	blood:
12	chr7:139347732..139349998-chr7:139476335..139478043,2	MCF-7	breast:
13	chr7:139343839..139345821-chr7:139357600..139359913,3	K562	blood:
14	chr7:139348088..139350963-chr7:139363410..139366319,3	K562	blood:
15	chr7:139329316..139331060-chr7:139362708..139364639,2	K562	blood:
16	chr7:139368203..139370161-chr7:139373507..139375781,2	K562	blood:
17	chr7:139352493..139354440-chr7:139476768..139478705,2	MCF-7	breast:
18	chr7:139343184..139346162-chr7:139348679..139352303,4	K562	blood:
19	chr7:139352146..139354539-chr7:139365775..139367528,2	K562	blood:
20	chr13:40716312..40717039-chr7:139354686..139355422,2	MCF-7	breast:
21	chr7:139345199..139348156-chr7:139672108..139673836,2	K562	blood:
22	chr7:139365631..139368624-chr7:139373462..139377174,3	K562	blood:
23	chr7:139356790..139360657-chr7:139362124..139365330,3	MCF-7	breast:
24	chr7:139328628..139331294-chr7:139363980..139366804,2	MCF-7	breast:
25	chr7:139358279..139359806-chr7:139683820..139686796,2	K562	blood:
26	chr7:139352146..139354539-chr7:139365775..139367528,2	K562	blood:
27	chr7:139351469..139353425-chr7:139364927..139366585,2	K562	blood:
28	chr7:139348088..139350963-chr7:139363410..139366319,3	K562	blood:
29	chr7:139240945..139243114-chr7:139363126..139365510,2	K562	blood:
30	chr7:139356790..139360657-chr7:139362124..139365330,3	MCF-7	breast:
31	chr12:48213190..48213691-chr7:139368895..139369395,2	NB4	blood:
32	chr7:139365162..139367836-chr7:139370460..139372347,2	MCF-7	breast:
33	chr7:139333225..139336176-chr7:139345371..139347692,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000061273	chromatin interactions
ENSG00000064393	chromatin interactions
ENSG00000059377	chromatin interactions

Extended variants
information (count: 966 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:966 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9690319	chr7:139347318-139347319	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201883140	chr7:139347335-139347336	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368979349	chr7:139347362-139347363	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs373566905	chr7:139347363-139347364	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386411489	chr7:139347364-139347365	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79899230	chr7:139347379-139347380	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76180680	chr7:139347380-139347381	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9770197	chr7:139347472-139347473	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs116325607	chr7:139347565-139347566	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566754540	chr7:139347585-139347586	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534207750	chr7:139347681-139347682	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564469925	chr7:139347693-139347694	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370851432	chr7:139347695-139347696	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12112049	chr7:139347718-139347719	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141747921	chr7:139347724-139347725	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10234526	chr7:139347741-139347742	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs182249513	chr7:139347782-139347783	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs562280982	chr7:139347796-139347797	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75103599	chr7:139347859-139347860	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551299906	chr7:139347937-139347938	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs187706649	chr7:139347976-139347977	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs560441306	chr7:139347977-139347978	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200769222	chr7:139347988-139347989	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374523791	chr7:139347996-139347997	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527950849	chr7:139348000-139348001	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539856007	chr7:139348104-139348105	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs564497462	chr7:139348113-139348114	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113806576	chr7:139348162-139348163	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs374275523	chr7:139348164-139348165	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs373511891	chr7:139348165-139348166	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550696287	chr7:139348175-139348176	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs192864902	chr7:139348179-139348180	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569593003	chr7:139348205-139348206	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs184950160	chr7:139348212-139348213	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs559810857	chr7:139348240-139348241	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs78211656	chr7:139348296-139348297	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs566791315	chr7:139348346-139348347	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs534039885	chr7:139348368-139348369	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs190093138	chr7:139348374-139348375	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs570906206	chr7:139348375-139348376	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs28376960	chr7:139348394-139348395	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372318880	chr7:139348401-139348402	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs556652030	chr7:139348481-139348482	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs574815060	chr7:139348590-139348591	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs374170365	chr7:139348606-139348607	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs543017160	chr7:139348622-139348623	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs114957752	chr7:139348673-139348674	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs192177251	chr7:139348720-139348721	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs115924771	chr7:139348760-139348761	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs184806072	chr7:139348769-139348770	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:965 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139328200-139351600	Enhancers	Brain Angular Gyrus	brain
2	chr7:139331000-139348600	Weak transcription	Hela-S3	cervix
3	chr7:139333000-139350200	Weak transcription	NHDF-Ad	bronchial
4	chr7:139333400-139347800	Weak transcription	Spleen	Spleen
5	chr7:139333400-139358000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:139333600-139351800	Enhancers	Left Ventricle	heart
7	chr7:139335600-139348200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:139339000-139348200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr7:139339200-139348800	Enhancers	Right Ventricle	heart
10	chr7:139339400-139348800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:139340400-139360200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:139340600-139347600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:139341000-139349400	Enhancers	Stomach Mucosa	stomach
14	chr7:139342000-139349200	Enhancers	Pancreas	Pancrea
15	chr7:139342600-139348000	Genic enhancers	Muscle Satellite Cultured Cells	--
16	chr7:139343000-139347800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:139343200-139348400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:139343200-139348800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr7:139343200-139348800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:139343200-139353600	Weak transcription	Primary T cells from cord blood	blood
21	chr7:139343400-139347800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:139343400-139348200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:139343400-139348800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr7:139343400-139349200	Enhancers	Adipose Nuclei	Adipose
25	chr7:139343600-139353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:139343800-139348000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr7:139343800-139355400	Enhancers	Brain Substantia Nigra	brain
28	chr7:139343800-139358200	Weak transcription	Fetal Thymus	thymus
29	chr7:139344000-139348200	Enhancers	Colonic Mucosa	Colon
30	chr7:139344000-139348400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:139344000-139353800	Weak transcription	Fetal Lung	lung
32	chr7:139344000-139367200	Weak transcription	Primary B cells from cord blood	blood
33	chr7:139344200-139347600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:139344200-139348000	Weak transcription	Fetal Brain Female	brain
35	chr7:139344400-139351800	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:139344400-139354400	Enhancers	Brain Anterior Caudate	brain
37	chr7:139344600-139349200	Enhancers	Liver	Liver
38	chr7:139344600-139351600	Enhancers	HepG2	liver
39	chr7:139344600-139354600	Enhancers	Brain Hippocampus Middle	brain
40	chr7:139345000-139347600	Weak transcription	Ovary	ovary
41	chr7:139345200-139350400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:139345600-139348200	Weak transcription	Fetal Intestine Large	intestine
43	chr7:139345600-139356800	Weak transcription	GM12878-XiMat	blood
44	chr7:139345600-139359000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:139345600-139360200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:139345600-139364800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:139345800-139347400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr7:139345800-139347800	Weak transcription	HUVEC	blood vessel
49	chr7:139345800-139348000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr7:139345800-139350400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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