Variant report

Variant	esv2595133
Chromosome Location	chr7:137606299-137607734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137602934..137605506-chr7:137607486..137609542,3	K562	blood:
2	chr7:137606279..137609116-chr7:137617759..137619750,2	K562	blood:
3	chr17:57917876..57919842-chr7:137604891..137607469,2	MCF-7	breast:
4	chr7:137600116..137602105-chr7:137606169..137608041,3	K562	blood:
5	chr7:137607730..137610117-chr7:137638239..137640378,2	MCF-7	breast:
6	chr7:137600116..137601742-chr7:137606169..137608041,2	K562	blood:

Variant related genes	Relation type
ENSG00000199004	chromatin interactions
ENSG00000182158	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113512667	chr7:137606300-137606301	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531576791	chr7:137606303-137606304	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73729522	chr7:137606359-137606360	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533884939	chr7:137606365-137606366	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565220569	chr7:137606375-137606376	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs184738053	chr7:137606405-137606406	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547343089	chr7:137606511-137606512	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs28546436	chr7:137606523-137606524	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188587742	chr7:137606555-137606556	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549507823	chr7:137606565-137606566	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs373593154	chr7:137606628-137606629	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs538076066	chr7:137606629-137606630	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs547657877	chr7:137606665-137606666	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs578169097	chr7:137606678-137606679	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79359587	chr7:137606698-137606699	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs76353854	chr7:137606699-137606700	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537315726	chr7:137606737-137606738	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73152575	chr7:137606844-137606845	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs556627991	chr7:137606910-137606911	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554088482	chr7:137606967-137606968	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs570690373	chr7:137606986-137606987	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs574091803	chr7:137607007-137607008	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs543133204	chr7:137607025-137607026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367729000	chr7:137607039-137607040	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113592204	chr7:137607046-137607047	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs13239212	chr7:137607108-137607109	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs201270472	chr7:137607116-137607117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375121368	chr7:137607129-137607130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28484815	chr7:137607130-137607131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201771481	chr7:137607131-137607132	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28656868	chr7:137607132-137607133	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200198615	chr7:137607133-137607134	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs201054812	chr7:137607135-137607136	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576290744	chr7:137607143-137607144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs578052810	chr7:137607144-137607145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556359556	chr7:137607145-137607146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs13239225	chr7:137607149-137607150	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375868829	chr7:137607151-137607152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs28501139	chr7:137607159-137607160	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs28616263	chr7:137607161-137607162	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs71177927	chr7:137607162-137607163	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370474101	chr7:137607165-137607166	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373595270	chr7:137607167-137607168	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs185120121	chr7:137607169-137607170	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375339888	chr7:137607184-137607185	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs13239226	chr7:137607185-137607186	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs367671601	chr7:137607187-137607188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs199805163	chr7:137607199-137607200	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs372918928	chr7:137607203-137607204	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs273949	chr7:137607205-137607206	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Neuroticism	17667963	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute myeloid leukemia	17237825	CNVD
Esophageal cancer	21851588	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
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
2	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
3	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr7:137588800-137620200	Weak transcription	Dnd41	blood
5	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:137592200-137609400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
9	chr7:137594200-137610200	Weak transcription	Brain Angular Gyrus	brain
10	chr7:137594600-137611200	Weak transcription	Thymus	Thymus
11	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:137597400-137610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:137597600-137610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr7:137598400-137610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:137598800-137610200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:137598800-137611200	Weak transcription	Esophagus	oesophagus
17	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
18	chr7:137599600-137611200	Weak transcription	Spleen	Spleen
19	chr7:137599800-137614800	Weak transcription	HMEC	breast
20	chr7:137600000-137611200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr7:137600000-137612400	Weak transcription	Lung	lung
22	chr7:137600200-137618400	Weak transcription	Fetal Thymus	thymus
23	chr7:137600800-137608200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:137600800-137610200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:137600800-137610200	Weak transcription	NHEK	skin
26	chr7:137600800-137611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:137600800-137611200	Weak transcription	Colonic Mucosa	Colon
28	chr7:137600800-137611200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:137600800-137612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:137601000-137607600	Weak transcription	NH-A	brain
31	chr7:137601000-137609800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:137601000-137609800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:137601200-137608600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:137601800-137607600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr7:137601800-137612400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr7:137602200-137607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr7:137602600-137612600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr7:137603000-137608600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:137603200-137617600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:137603400-137611200	Weak transcription	Fetal Intestine Small	intestine
41	chr7:137603400-137612400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:137603600-137606600	Strong transcription	GM12878-XiMat	blood
43	chr7:137603600-137607000	Strong transcription	HepG2	liver
44	chr7:137603600-137610200	Weak transcription	Brain Anterior Caudate	brain
45	chr7:137603800-137610200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:137603800-137611000	Weak transcription	HSMMtube	muscle
47	chr7:137604000-137608000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:137604400-137608000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:137604600-137606600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:137604600-137606600	Enhancers	Rectal Smooth Muscle	rectum

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