Variant report

Variant	nsv608477
Chromosome Location	chr7:139697043-139718147
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:76)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:139316674..139318920-chr7:139697482..139700364,2	K562	blood:
2	chr7:139328960..139329643-chr7:139703681..139704391,2	MCF-7	breast:
3	chr7:139330399..139331374-chr7:139705278..139706280,3	MCF-7	breast:
4	chr7:139190866..139192504-chr7:139706360..139708472,2	K562	blood:
5	chr7:139704249..139705856-chr7:139707585..139709805,2	MCF-7	breast:
6	chr7:139119239..139119940-chr7:139703455..139704291,2	MCF-7	breast:
7	chr7:139330782..139331322-chr7:139701836..139702339,2	MCF-7	breast:
8	chr7:139303752..139304279-chr7:139701798..139702785,3	K562	blood:
9	chr7:139715605..139717869-chr7:139720916..139723074,2	MCF-7	breast:
10	chr7:139138096..139138727-chr7:139701752..139702292,2	K562	blood:
11	chr7:139715355..139721881-chr7:139722146..139726324,6	K562	blood:
12	chr7:139286552..139287460-chr7:139703620..139704186,2	MCF-7	breast:
13	chr7:139303577..139304236-chr7:139701800..139702755,4	MCF-7	breast:
14	chr7:139305538..139306133-chr7:139705389..139706293,2	MCF-7	breast:
15	chr7:139474504..139476170-chr7:139702174..139703721,2	K562	blood:
16	chr7:139715725..139717874-chr7:139721172..139723646,2	K562	blood:
17	chr7:139303335..139304243-chr7:139703299..139704411,6	MCF-7	breast:
18	chr7:139328626..139331873-chr7:139705431..139708585,4	K562	blood:
19	chr7:139305236..139306017-chr7:139703647..139704843,3	MCF-7	breast:
20	chr7:139704249..139705856-chr7:139707585..139709805,2	MCF-7	breast:
21	chr7:139713672..139714503-chr9:123638759..123639437,2	MCF-7	breast:
22	chr7:139710366..139712669-chr7:139733842..139735376,2	MCF-7	breast:
23	chr7:139415237..139415953-chr7:139701565..139702351,2	K562	blood:
24	chr7:139329473..139330144-chr7:139702092..139702744,2	K562	blood:
25	chr7:139708923..139710812-chr7:139717040..139718668,2	K562	blood:
26	chr7:139465353..139468233-chr7:139701916..139703718,2	K562	blood:
27	chr7:139672624..139674402-chr7:139713638..139716560,2	K562	blood:
28	chr7:139286649..139287354-chr7:139702212..139702814,2	MCF-7	breast:
29	chr7:139614831..139616471-chr7:139701068..139703732,2	K562	blood:
30	chr7:139474297..139476701-chr7:139704235..139706049,2	K562	blood:
31	chr7:139330352..139331470-chr7:139703432..139704776,8	K562	blood:
32	chr7:139287081..139287714-chr7:139705354..139706228,2	K562	blood:
33	chr7:139716234..139719219-chr7:139738586..139740669,3	MCF-7	breast:
34	chr5:1794905..1795739-chr7:139705398..139706186,2	HCT-116	colon:
35	chr7:139314119..139314644-chr7:139701824..139702453,2	MCF-7	breast:
36	chr7:139309475..139311507-chr7:139696950..139699717,2	K562	blood:
37	chr7:139703522..139705249-chr7:139711647..139714491,2	K562	blood:
38	chr7:139475354..139476270-chr7:139703680..139704339,2	MCF-7	breast:
39	chr7:139700285..139702105-chr7:139703103..139705891,2	MCF-7	breast:
40	chr7:139476831..139477538-chr7:139703309..139704264,3	K562	blood:
41	chr7:139190117..139190938-chr7:139703388..139703984,3	K562	blood:
42	chr7:139298062..139299639-chr7:139695745..139697725,2	K562	blood:
43	chr7:139708923..139710812-chr7:139717040..139718668,2	K562	blood:
44	chr7:139475446..139476273-chr7:139701791..139702721,7	K562	blood:
45	chr7:139472005..139473850-chr7:139702644..139704624,2	K562	blood:
46	chr7:139705363..139705896-chr7:140042658..140043424,2	MCF-7	breast:
47	chr7:139303399..139304382-chr7:139705078..139705887,3	MCF-7	breast:
48	chr7:139705358..139706253-chr7:140025500..140026651,4	K562	blood:
49	chr7:139190051..139190952-chr7:139701788..139702823,5	K562	blood:
50	chr7:139330341..139331994-chr7:139701505..139702725,13	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000059378	chromatin interactions
ENSG00000059377	chromatin interactions
ENSG00000119403	chromatin interactions
ENSG00000157800	chromatin interactions
ENSG00000064393	chromatin interactions

Extended variants
information (count: 931 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8192861	chr7:139697043-139697044	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs182742016	chr7:139697120-139697121	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs575124523	chr7:139697142-139697143	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs542149608	chr7:139697165-139697166	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187026308	chr7:139697223-139697224	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73734170	chr7:139697235-139697236	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539816713	chr7:139697252-139697253	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564656025	chr7:139697260-139697261	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs191865334	chr7:139697364-139697365	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs79378728	chr7:139697512-139697513	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs77739488	chr7:139697523-139697524	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs149090832	chr7:139697637-139697638	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs548193776	chr7:139697660-139697661	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs183961965	chr7:139697681-139697682	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs79934640	chr7:139697730-139697731	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs550156889	chr7:139697739-139697740	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs117912128	chr7:139697784-139697785	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs570991629	chr7:139697795-139697796	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs537950836	chr7:139697805-139697806	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs7789470	chr7:139697808-139697809	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568570640	chr7:139697809-139697810	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs536000712	chr7:139697853-139697854	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs554067744	chr7:139697912-139697913	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs138749834	chr7:139697913-139697914	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs35430583	chr7:139697927-139697928	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs534005837	chr7:139697933-139697934	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs533578165	chr7:139697942-139697943	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs558107272	chr7:139698014-139698015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76819702	chr7:139698036-139698037	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543960042	chr7:139698134-139698135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188904709	chr7:139698142-139698143	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141894568	chr7:139698157-139698158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145636435	chr7:139698158-139698159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560469240	chr7:139698177-139698178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138216566	chr7:139698231-139698232	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552652043	chr7:139698246-139698247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547599946	chr7:139698253-139698254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191379607	chr7:139698303-139698304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373513571	chr7:139698313-139698314	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550009862	chr7:139698345-139698346	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568516977	chr7:139698346-139698347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182467839	chr7:139698366-139698367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10274414	chr7:139698381-139698382	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187029161	chr7:139698429-139698430	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539738806	chr7:139698436-139698437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558168881	chr7:139698458-139698459	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576769437	chr7:139698492-139698493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376383957	chr7:139698493-139698494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs719467	chr7:139698524-139698525	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs556006900	chr7:139698571-139698572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:139672000-139704400	Weak transcription	Lung	lung
2	chr7:139681000-139717800	Weak transcription	Thymus	Thymus
3	chr7:139689600-139701800	Weak transcription	Fetal Kidney	kidney
4	chr7:139690800-139705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:139691200-139706000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr7:139691400-139697600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr7:139692000-139706400	Weak transcription	Spleen	Spleen
8	chr7:139692600-139700800	Weak transcription	Fetal Thymus	thymus
9	chr7:139693200-139729000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr7:139693400-139697600	Enhancers	Brain Hippocampus Middle	brain
11	chr7:139693400-139697800	Enhancers	Brain Substantia Nigra	brain
12	chr7:139695000-139707400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr7:139695200-139697600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:139695200-139700000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:139695200-139721600	Weak transcription	Colonic Mucosa	Colon
16	chr7:139695400-139699000	Weak transcription	Right Ventricle	heart
17	chr7:139695400-139706000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:139695600-139701800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:139695600-139703800	Weak transcription	A549	lung
20	chr7:139695800-139701800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr7:139695800-139705400	Weak transcription	Fetal Heart	heart
22	chr7:139695800-139706400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:139695800-139709000	Weak transcription	Gastric	stomach
24	chr7:139696600-139698000	Bivalent Enhancer	HepG2	liver
25	chr7:139696600-139698200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:139696800-139700000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:139696800-139701600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:139697000-139697200	Weak transcription	Brain Angular Gyrus	brain
29	chr7:139697000-139697200	Enhancers	Brain Cingulate Gyrus	brain
30	chr7:139697200-139697400	Enhancers	Brain Germinal Matrix	brain
31	chr7:139697200-139702000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:139697600-139699000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:139697600-139699200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:139698200-139699200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:139699000-139707200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr7:139699200-139700200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:139699200-139706400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr7:139699800-139703600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:139700000-139700800	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr7:139700400-139701200	Enhancers	HepG2	liver
41	chr7:139700800-139701600	Enhancers	Fetal Thymus	thymus
42	chr7:139700800-139702600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:139701200-139703600	Weak transcription	HepG2	liver
44	chr7:139701600-139702000	Weak transcription	Fetal Thymus	thymus
45	chr7:139701600-139702600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:139701800-139702200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:139701800-139702200	Enhancers	Fetal Stomach	stomach
48	chr7:139701800-139702400	Enhancers	Fetal Kidney	kidney
49	chr7:139701800-139702600	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr7:139702000-139702200	Enhancers	Muscle Satellite Cultured Cells	--

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