Variant report

Variant	esv3441802
Chromosome Location	chr7:137602944-137603938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137594343..137597312-chr7:137601337..137603443,2	K562	blood:
2	chr7:137594343..137597893-chr7:137600589..137603730,5	K562	blood:
3	chr7:137602936..137605750-chr7:137611145..137614286,3	K562	blood:
4	chr7:137601809..137604434-chr7:137608042..137610252,2	K562	blood:
5	chr7:137601426..137603845-chr7:137616116..137618626,2	K562	blood:
6	chr7:137602934..137605506-chr7:137607486..137609542,3	K562	blood:

Variant related genes	Relation type
ENSG00000182158	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71533766	chr7:137602946-137602947	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs398073153	chr7:137602957-137602958	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs199523958	chr7:137602958-137602959	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs376081298	chr7:137602961-137602962	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190296843	chr7:137602986-137602987	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566053915	chr7:137602988-137602989	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534752383	chr7:137603029-137603030	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs368392441	chr7:137603039-137603040	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs557511316	chr7:137603077-137603078	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181498753	chr7:137603091-137603092	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs138761774	chr7:137603123-137603124	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112574598	chr7:137603125-137603126	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs28421474	chr7:137603139-137603140	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556708832	chr7:137603145-137603146	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs273956	chr7:137603188-137603189	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs273955	chr7:137603252-137603253	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs553039981	chr7:137603254-137603255	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572776252	chr7:137603304-137603305	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138020241	chr7:137603308-137603309	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs57136332	chr7:137603327-137603328	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371266544	chr7:137603346-137603347	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79278487	chr7:137603348-137603349	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149491248	chr7:137603349-137603350	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79999925	chr7:137603355-137603356	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563830620	chr7:137603381-137603382	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78449981	chr7:137603442-137603443	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs552829085	chr7:137603469-137603470	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544949801	chr7:137603488-137603489	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs397936774	chr7:137603498-137603499	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs273954	chr7:137603546-137603547	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs530386220	chr7:137603604-137603605	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs528470553	chr7:137603620-137603621	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs75252368	chr7:137603630-137603631	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568136410	chr7:137603636-137603637	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143943708	chr7:137603693-137603694	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs184895798	chr7:137603707-137603708	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75798801	chr7:137603819-137603820	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189546545	chr7:137603824-137603825	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs539283329	chr7:137603860-137603861	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553218968	chr7:137603905-137603906	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573022518	chr7:137603920-137603921	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370149890	chr7:137603921-137603922	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 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:159 , 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	chr7:137584600-137604800	Weak transcription	Right Atrium	heart
3	chr7:137585000-137604800	Weak transcription	Psoas Muscle	Psoas
4	chr7:137585000-137605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:137585200-137606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:137588800-137603400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137588800-137603400	Strong transcription	Fetal Intestine Small	intestine
8	chr7:137588800-137606200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:137588800-137615400	Weak transcription	Stomach Mucosa	stomach
10	chr7:137588800-137618400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:137588800-137620200	Weak transcription	Dnd41	blood
12	chr7:137589000-137606200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr7:137589400-137603600	Strong transcription	NHLF	lung
14	chr7:137589400-137603800	Strong transcription	Sigmoid Colon	Sigmoid Colon
15	chr7:137589600-137613600	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr7:137590000-137603000	Strong transcription	Fetal Stomach	stomach
17	chr7:137590000-137603400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:137590400-137603400	Weak transcription	Fetal Heart	heart
19	chr7:137590400-137603600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:137592000-137603600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:137592000-137611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:137592200-137609400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:137592400-137606000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr7:137592400-137615000	Weak transcription	Hela-S3	cervix
25	chr7:137594200-137606000	Weak transcription	Gastric	stomach
26	chr7:137594200-137610200	Weak transcription	Brain Angular Gyrus	brain
27	chr7:137594400-137604800	Weak transcription	Right Ventricle	heart
28	chr7:137594600-137604800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:137594600-137611200	Weak transcription	Thymus	Thymus
30	chr7:137594600-137618000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:137595400-137604600	Strong transcription	Placenta	Placenta
32	chr7:137597400-137610400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr7:137597600-137610800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:137598400-137605600	Weak transcription	A549	lung
35	chr7:137598400-137610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:137598800-137610200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:137598800-137611200	Weak transcription	Esophagus	oesophagus
38	chr7:137598800-137617000	Weak transcription	Small Intestine	intestine
39	chr7:137599600-137605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr7:137599600-137611200	Weak transcription	Spleen	Spleen
41	chr7:137599800-137604800	Weak transcription	Pancreas	Pancrea
42	chr7:137599800-137614800	Weak transcription	HMEC	breast
43	chr7:137600000-137611200	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:137600000-137612400	Weak transcription	Lung	lung
45	chr7:137600200-137604600	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:137600200-137604600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:137600200-137604800	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:137600200-137604800	Weak transcription	Ovary	ovary
49	chr7:137600200-137606000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr7:137600200-137606000	Weak transcription	Left Ventricle	heart

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