Variant report

Variant	esv3450977
Chromosome Location	chr3:141522062-141525160
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141524533..141528058-chr3:141529338..141533276,4	K562	blood:
2	chr3:141510800..141513086-chr3:141522997..141525044,2	K562	blood:
3	chr3:141516830..141519139-chr3:141521410..141524381,2	K562	blood:
4	chr3:141523962..141525944-chr3:141942338..141945023,2	MCF-7	breast:
5	chr3:141516207..141518074-chr3:141524566..141526212,2	K562	blood:
6	chr3:141518837..141521079-chr3:141521357..141523336,2	K562	blood:
7	chr3:141522381..141524139-chr3:141593239..141595846,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000069849	chromatin interactions
ENSG00000175066	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111915895	chr3:141522080-141522081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs5853048	chr3:141522108-141522109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs3057588	chr3:141522127-141522128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563457844	chr3:141522134-141522135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184145844	chr3:141522141-141522142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548835580	chr3:141522148-141522149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374158116	chr3:141522150-141522151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189861817	chr3:141522250-141522251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541529593	chr3:141522261-141522262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112674890	chr3:141522262-141522263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528404012	chr3:141522293-141522294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546178649	chr3:141522365-141522366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571199005	chr3:141522377-141522378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115477982	chr3:141522411-141522412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs192615392	chr3:141522443-141522444	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569397809	chr3:141522457-141522458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs536822618	chr3:141522458-141522459	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555238612	chr3:141522459-141522460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs185349662	chr3:141522500-141522501	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534548278	chr3:141522516-141522517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189072746	chr3:141522522-141522523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377338683	chr3:141522523-141522524	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77102729	chr3:141522531-141522532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141448894	chr3:141522538-141522539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147304241	chr3:141522549-141522550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371485105	chr3:141522552-141522553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs186423935	chr3:141522567-141522568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542396029	chr3:141522586-141522587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189166276	chr3:141522587-141522588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs528367113	chr3:141522632-141522633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs145181559	chr3:141522633-141522634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs180902332	chr3:141522671-141522672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs111964911	chr3:141522710-141522711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs202027665	chr3:141522769-141522770	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs375848589	chr3:141522772-141522773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201604083	chr3:141522773-141522774	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs71894419	chr3:141522774-141522775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114507447	chr3:141522787-141522788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532281876	chr3:141522794-141522795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568845203	chr3:141522799-141522800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185835298	chr3:141522801-141522802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71304104	chr3:141522847-141522848	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552027144	chr3:141522888-141522889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548799348	chr3:141522911-141522912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567073234	chr3:141523015-141523016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs75758323	chr3:141523037-141523038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565885776	chr3:141523043-141523044	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs78868873	chr3:141523045-141523046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs570797748	chr3:141523101-141523102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534505878	chr3:141523139-141523140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141516800-141523400	Weak transcription	Fetal Brain Male	brain
2	chr3:141517000-141523400	Weak transcription	Gastric	stomach
3	chr3:141517200-141523400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:141517800-141523400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:141517800-141523400	Weak transcription	Fetal Kidney	kidney
6	chr3:141517800-141523600	Weak transcription	Pancreas	Pancrea
7	chr3:141518000-141523400	Weak transcription	Esophagus	oesophagus
8	chr3:141521000-141523600	Enhancers	K562	blood
9	chr3:141523400-141523600	Active TSS	Fetal Lung	lung
10	chr3:141523400-141523800	ZNF genes & repeats	Fetal Brain Male	brain
11	chr3:141523400-141523800	ZNF genes & repeats	Gastric	stomach
12	chr3:141523400-141524000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:141523400-141524000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
14	chr3:141523400-141524000	ZNF genes & repeats	Fetal Kidney	kidney
15	chr3:141523400-141524400	Enhancers	Esophagus	oesophagus
16	chr3:141523600-141523800	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:141523600-141523800	Flanking Active TSS	Fetal Lung	lung
18	chr3:141523600-141524000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:141523600-141524000	Enhancers	Pancreas	Pancrea
20	chr3:141523600-141524800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:141523600-141524800	Flanking Active TSS	K562	blood
22	chr3:141523600-141524800	Enhancers	NHEK	skin
23	chr3:141523600-141525000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:141523800-141524000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:141523800-141524000	Enhancers	Gastric	stomach
26	chr3:141523800-141524200	Enhancers	Fetal Muscle Trunk	muscle
27	chr3:141523800-141524400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:141523800-141530400	Weak transcription	Fetal Brain Male	brain
29	chr3:141524000-141524600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:141524000-141524800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:141524000-141524800	Enhancers	Fetal Muscle Leg	muscle
32	chr3:141524000-141524800	Enhancers	HSMMtube	muscle
33	chr3:141524000-141526200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:141524000-141526200	Weak transcription	Pancreas	Pancrea
35	chr3:141524200-141524400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr3:141524200-141524400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr3:141524800-141525200	Enhancers	K562	blood
38	chr3:141524800-141526200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr3:141524800-141529800	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:141525000-141526200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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