Variant report

Variant	esv3348355
Chromosome Location	chr7:138022746-138072487
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:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:138060131..138063682-chr7:138064842..138066842,3	K562	blood:
2	chr7:138033084..138034621-chr7:138145195..138147214,2	K562	blood:
3	chr7:138036289..138038614-chr7:138151347..138153199,2	K562	blood:
4	chr7:138056903..138059110-chr7:138072640..138074670,2	K562	blood:
5	chr7:138034267..138036102-chr7:138038390..138040259,2	K562	blood:
6	chr7:138064132..138065748-chr7:138161608..138163867,2	K562	blood:
7	chr7:138030718..138033704-chr7:138034861..138038720,3	K562	blood:
8	chr7:137941053..137942559-chr7:138036086..138038896,2	K562	blood:
9	chr7:138034267..138036102-chr7:138038390..138040259,2	K562	blood:
10	chr7:138060131..138063682-chr7:138064842..138066842,3	K562	blood:
11	chr7:138035919..138038912-chr7:138143414..138146146,5	K562	blood:
12	chr7:137587919..137589974-chr7:138035321..138037174,2	K562	blood:
13	chr7:137348720..137350884-chr7:138042291..138044581,2	MCF-7	breast:
14	chr7:138035941..138037623-chr7:138143502..138146608,3	K562	blood:
15	chr7:138030718..138033704-chr7:138034861..138038720,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM24-1	chr7:138071283-138071482	NONHSAT123604

No data

Variant related genes	Relation type
ENSG00000122779	chromatin interactions

Extended variants
information (count: 2007 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:2007 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56199969	chr7:138022746-138022747	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs357441	chr7:138022754-138022755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570100261	chr7:138022761-138022762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573727091	chr7:138022767-138022768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112910009	chr7:138022768-138022769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186238968	chr7:138022815-138022816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562338238	chr7:138022844-138022845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs367783380	chr7:138022858-138022859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150459910	chr7:138022914-138022915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs357440	chr7:138022924-138022925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559314632	chr7:138022975-138022976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs357439	chr7:138022986-138022987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546633431	chr7:138023005-138023006	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560111375	chr7:138023066-138023067	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs529417820	chr7:138023093-138023094	ZNF genes & repeats Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549194377	chr7:138023207-138023208	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs138262593	chr7:138023238-138023239	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs55890911	chr7:138023256-138023257	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs357438	chr7:138023288-138023289	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs375677880	chr7:138023294-138023295	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs149595518	chr7:138023319-138023320	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs357437	chr7:138023370-138023371	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs573537783	chr7:138023419-138023420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536208605	chr7:138023476-138023477	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73462463	chr7:138023500-138023501	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143286597	chr7:138023556-138023557	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112795156	chr7:138023566-138023567	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386718304	chr7:138023575-138023576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs67490772	chr7:138023577-138023578	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34743080	chr7:138023593-138023594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56748811	chr7:138023599-138023600	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528820137	chr7:138023600-138023601	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13223395	chr7:138023601-138023602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544484160	chr7:138023602-138023603	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372279305	chr7:138023608-138023609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578028685	chr7:138023609-138023610	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78723918	chr7:138023613-138023614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76103418	chr7:138023615-138023616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368999187	chr7:138023646-138023647	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540503657	chr7:138023681-138023682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555899838	chr7:138023690-138023691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560888100	chr7:138023692-138023693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139077775	chr7:138023699-138023700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529288469	chr7:138023708-138023709	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191033197	chr7:138023719-138023720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552414863	chr7:138023734-138023735	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34155444	chr7:138023748-138023749	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531822004	chr7:138023754-138023755	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182373621	chr7:138023770-138023771	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143012878	chr7:138023780-138023781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Low-grade astrocytoma	19016743	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138019400-138028000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:138022200-138023200	Enhancers	HUVEC	blood vessel
3	chr7:138023000-138023400	Active TSS	Fetal Heart	heart
4	chr7:138023000-138027200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:138023200-138023800	Weak transcription	HUVEC	blood vessel
6	chr7:138023200-138024400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:138023200-138025000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr7:138023800-138024000	Enhancers	HUVEC	blood vessel
9	chr7:138023800-138024400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr7:138024200-138024600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr7:138029600-138031200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:138029800-138031200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:138030400-138031200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr7:138030400-138031200	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr7:138030600-138030800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr7:138030600-138031200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr7:138033400-138034000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:138033800-138035200	Enhancers	Fetal Brain Male	brain
19	chr7:138034000-138034400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:138034000-138034800	Enhancers	Fetal Brain Female	brain
21	chr7:138034400-138038800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr7:138034600-138036800	ZNF genes & repeats	K562	blood
23	chr7:138035600-138035800	Weak transcription	Right Atrium	heart
24	chr7:138036800-138037000	Enhancers	K562	blood
25	chr7:138036800-138037600	Enhancers	HepG2	liver
26	chr7:138037000-138037400	Weak transcription	Right Atrium	heart
27	chr7:138037000-138037400	Flanking Active TSS	K562	blood
28	chr7:138037400-138037800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr7:138037400-138037800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:138037400-138037800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:138037400-138037800	Enhancers	K562	blood
32	chr7:138037400-138038000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:138037600-138038000	Enhancers	Spleen	Spleen
34	chr7:138037600-138038200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:138037600-138038200	Flanking Active TSS	HepG2	liver
36	chr7:138037600-138038800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:138037800-138038200	Flanking Active TSS	K562	blood
38	chr7:138038200-138038600	Enhancers	K562	blood
39	chr7:138038200-138039600	Enhancers	HepG2	liver
40	chr7:138038600-138038800	Flanking Active TSS	K562	blood
41	chr7:138038800-138040000	Enhancers	K562	blood
42	chr7:138039600-138044400	Weak transcription	HepG2	liver
43	chr7:138040000-138040200	Weak transcription	K562	blood
44	chr7:138040200-138040400	ZNF genes & repeats	K562	blood
45	chr7:138040400-138040600	Enhancers	K562	blood
46	chr7:138040600-138041000	Weak transcription	K562	blood
47	chr7:138041000-138042000	Enhancers	K562	blood
48	chr7:138041400-138042200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:138042000-138043000	Weak transcription	K562	blood
50	chr7:138042200-138051400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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