Variant report

Variant	esv2759185
Chromosome Location	chr3:144236202-144391387
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:16)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:144323853..144325569-chr3:144326715..144329004,2	MCF-7	breast:
2	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
3	chr3:144323853..144325569-chr3:144326715..144329004,2	MCF-7	breast:
4	chr11:62609055..62609630-chr3:144293870..144294370,2	Hela-S3	cervix:
5	chr3:144231778..144234120-chr3:144234556..144237249,2	MCF-7	breast:
6	chr3:144327567..144329487-chr3:144331119..144332711,2	K562	blood:
7	chr3:143690536..143691103-chr3:144304085..144304961,2	MCF-7	breast:
8	chr3:144304316..144304983-chr3:144355510..144356333,2	MCF-7	breast:
9	chr3:143689445..143692390-chr3:144295260..144296931,2	MCF-7	breast:
10	chr3:144304316..144304983-chr3:144355510..144356333,2	MCF-7	breast:
11	chr3:144327567..144329487-chr3:144331119..144332711,2	K562	blood:
12	chr3:143691164..143692662-chr3:144303953..144304678,4	MCF-7	breast:
13	chr3:144251291..144253188-chr3:144254585..144256641,2	K562	blood:
14	chr3:143688586..143691130-chr3:144236115..144237811,2	K562	blood:
15	chr3:143689691..143692601-chr3:144357681..144359906,2	MCF-7	breast:
16	chr3:143690164..143692068-chr3:144303430..144306115,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf58-7	chr3:144332218-144333976	ncRnaDb_ncrna_FR098505_1

No data

Variant related genes	Relation type
ENSG00000181744	chromatin interactions
ENSG00000133316	chromatin interactions

Extended variants
information (count: 3570 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:3570 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570330473	chr3:144236239-144236240	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537873906	chr3:144236258-144236259	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185038822	chr3:144236294-144236295	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189746424	chr3:144236295-144236296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568333111	chr3:144236325-144236326	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535759259	chr3:144236333-144236334	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs148384321	chr3:144236343-144236344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148999365	chr3:144236366-144236367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116776919	chr3:144236384-144236385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181795080	chr3:144236391-144236392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs140601982	chr3:144236394-144236395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11926933	chr3:144236428-144236429	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9870285	chr3:144236432-144236433	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs562548721	chr3:144236447-144236448	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs187470872	chr3:144236526-144236527	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542154895	chr3:144236537-144236538	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs150098801	chr3:144236543-144236544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192073710	chr3:144236544-144236545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551969063	chr3:144236659-144236660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs138508736	chr3:144236663-144236664	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531455927	chr3:144236684-144236685	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs35307307	chr3:144236687-144236688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572673208	chr3:144236702-144236703	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372755902	chr3:144236703-144236704	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9815428	chr3:144236707-144236708	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549749757	chr3:144236714-144236715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568103261	chr3:144236729-144236730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs35738586	chr3:144236738-144236739	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183579192	chr3:144236742-144236743	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs554064077	chr3:144236751-144236752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188574831	chr3:144236787-144236788	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36083826	chr3:144236819-144236820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565722846	chr3:144236848-144236849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539588139	chr3:144236887-144236888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs190219456	chr3:144236897-144236898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376571949	chr3:144236905-144236906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs576882190	chr3:144236925-144236926	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537961319	chr3:144236980-144236981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs375991326	chr3:144237021-144237022	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141259149	chr3:144237025-144237026	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544895805	chr3:144237038-144237039	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376103982	chr3:144237059-144237060	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs556125997	chr3:144237142-144237143	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182716341	chr3:144237152-144237153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186622337	chr3:144237157-144237158	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191504192	chr3:144237185-144237186	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7631147	chr3:144237272-144237273	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572664000	chr3:144237283-144237284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs141645111	chr3:144237304-144237305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs564527583	chr3:144237399-144237400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	21509527	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144238800-144239000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr3:144239200-144239400	Enhancers	H9 Cell Line	embryonic stem cell
3	chr3:144239200-144239600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:144240600-144241600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:144240600-144241800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:144240800-144241600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:144240800-144241600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr3:144241000-144241400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:144241000-144242000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr3:144241000-144242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:144241200-144241800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:144241800-144243200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:144242400-144242600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:144242400-144243200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:144243200-144243600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:144243200-144243800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:144243200-144244000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:144243200-144244000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:144243200-144244000	Enhancers	Adipose Nuclei	Adipose
20	chr3:144243400-144244000	Enhancers	NHDF-Ad	bronchial
21	chr3:144247200-144249200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr3:144247600-144247800	Enhancers	Fetal Intestine Large	intestine
23	chr3:144247600-144250000	Enhancers	Fetal Intestine Small	intestine
24	chr3:144248000-144248600	Weak transcription	Fetal Intestine Large	intestine
25	chr3:144248600-144248800	Enhancers	Fetal Intestine Large	intestine
26	chr3:144248800-144249400	Weak transcription	Fetal Intestine Large	intestine
27	chr3:144249200-144252600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr3:144249600-144249800	Enhancers	Fetal Intestine Large	intestine
29	chr3:144252600-144252800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:144252800-144253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:144253400-144254400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:144254400-144256200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr3:144255200-144259000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr3:144256200-144256600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:144266000-144266600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:144266400-144267800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr3:144266400-144268800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr3:144266400-144269000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:144266600-144267800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr3:144266600-144267800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr3:144266600-144267800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr3:144266600-144269000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:144266600-144269400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr3:144266600-144271000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr3:144266800-144268800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:144267000-144269000	Enhancers	H1 Cell Line	embryonic stem cell
47	chr3:144267200-144268400	Enhancers	Fetal Lung	lung
48	chr3:144267200-144268600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr3:144267200-144268800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr3:144267200-144269000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links