Variant report

Variant	nsv524429
Chromosome Location	chr3:141372391-141377330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr3:141376126-141376497	K562	blood:	n/a	n/a
2	CEBPB	chr3:141375630-141375875	IMR90	lung:	n/a	n/a
3	CTCF	chr3:141375625-141375699	LNCaP	prostate:	n/a	n/a
4	E2F4	chr3:141375557-141375920	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr3:141375585-141375983	MCF10A-Er-Src	breast:	n/a	chr3:141375753-141375762 chr3:141375754-141375763 chr3:141375751-141375759
6	FOS	chr3:141375575-141375958	MCF10A-Er-Src	breast:	n/a	chr3:141375753-141375762 chr3:141375754-141375763 chr3:141375751-141375759
7	FOS	chr3:141375568-141375944	MCF10A-Er-Src	breast:	n/a	chr3:141375753-141375762 chr3:141375754-141375763 chr3:141375751-141375759
8	FOS	chr3:141375575-141375977	MCF10A-Er-Src	breast:	n/a	chr3:141375753-141375762 chr3:141375754-141375763 chr3:141375751-141375759
9	GATA1	chr3:141376191-141376789	PBDE	blood:	n/a	n/a
10	JUND	chr3:141375602-141375750	H1-hESC	embryonic stem cell:	n/a	n/a
11	KAP1	chr3:141376150-141376826	HEK293	kidney:	n/a	n/a
12	MAX	chr3:141374728-141375056	K562	blood:	n/a	n/a
13	MYC	chr3:141376484-141376503	HUVEC	blood vessel:	n/a	n/a
14	MYC	chr3:141376510-141376529	HUVEC	blood vessel:	n/a	n/a
15	MYC	chr3:141375605-141375977	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr3:141375606-141375936	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr3:141375792-141375854	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr3:141375813-141375831	MCF10A-Er-Src	breast:	n/a	n/a
19	SETDB1	chr3:141375797-141376692	U2OS	brain:	n/a	n/a
20	STAT3	chr3:141374704-141374957	MCF10A-Er-Src	breast:	n/a	chr3:141374787-141374798
21	STAT3	chr3:141375657-141375910	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr3:141375625-141375879	MCF10A-Er-Src	breast:	n/a	n/a
23	STAT3	chr3:141375668-141375950	MCF10A-Er-Src	breast:	n/a	n/a
24	STAT3	chr3:141372747-141372805	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr3:141375684-141375943	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr3:141374806-141374809	MCF10A-Er-Src	breast:	n/a	n/a
27	TAL1	chr3:141376382-141376674	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:141376338-141376388	PANC-1	pancreas:	n/a
2	chr3:141376338-141376388	CMK	blood:	n/a
3	chr3:141376338-141376388	HCF	heart:	n/a
4	chr3:141377105-141377155	AG04449	skin:	fetal
5	chr3:141377105-141377155	GM12892	blood:	n/a
6	chr3:141377105-141377155	CMK	blood:	n/a
7	chr3:141376338-141376388	HPAEpiC	pulmonary alveolar:	n/a
8	chr3:141376338-141376388	BJ	skin:	n/a
9	chr3:141376338-141376388	Hela-S3	cervix:	n/a
10	chr3:141377105-141377155	T-47D	breast:	n/a
11	chr3:141376338-141376388	MCF-7	breast:	n/a
12	chr3:141377105-141377155	ovcar-3	ovarian:	n/a
13	chr3:141377105-141377155	HRE	kidney:	n/a
14	chr3:141376338-141376388	SK-N-SH_RA	brain:	n/a
15	chr3:141377105-141377155	RPTEC	kidney:	n/a
16	chr3:141376338-141376388	HAEpiC	amniotic membrane:	n/a
17	chr3:141377105-141377155	HL-60	blood:	n/a
18	chr3:141377105-141377155	HEEpiC	esophagus:	n/a
19	chr3:141377105-141377155	A549	lung:	n/a
20	chr3:141376338-141376388	AG04450	lung:	fetal
21	chr3:141377105-141377155	GM12878	blood:	n/a
22	chr3:141376338-141376388	RPTEC	kidney:	n/a
23	chr3:141376338-141376388	HRCEpiC	kidney:	n/a
24	chr3:141377105-141377155	HUVEC	blood vessel:	n/a
25	chr3:141376338-141376388	HCT-116	colon:	n/a
26	chr3:141376338-141376388	U87	brain:	n/a
27	chr3:141377105-141377155	HepG2	liver:	n/a
28	chr3:141376338-141376388	GM12892	blood:	n/a
29	chr3:141377105-141377155	NT2-D1	testis:	n/a
30	chr3:141377105-141377155	HNPCEpiC	eye:	n/a
31	chr3:141377105-141377155	LNCaP	prostate:	n/a
32	chr3:141377105-141377155	Hela-S3	cervix:	n/a
33	chr3:141376338-141376388	HL-60	blood:	n/a
34	chr3:141377105-141377155	NHDF-neo	bronchial:	n/a
35	chr3:141376338-141376388	GM19239	blood:	n/a
36	chr3:141377105-141377155	GM06990	blood:	n/a
37	chr3:141377105-141377155	SK-N-SH	brain:	n/a
38	chr3:141376338-141376388	Hepatocyte	liver:	n/a
39	chr3:141376338-141376388	Jurkat	blood:	n/a
40	chr3:141376338-141376388	NHDF-neo	bronchial:	n/a
41	chr3:141376338-141376388	HepG2	liver:	n/a
42	chr3:141376338-141376388	HRPEpiC	eye:	n/a
43	chr3:141377105-141377155	AG09309	skin:	n/a
44	chr3:141376338-141376388	HMEC	breast:	n/a
45	chr3:141376338-141376388	LNCaP	prostate:	n/a
46	chr3:141377105-141377155	HRCEpiC	kidney:	n/a
47	chr3:141376338-141376388	H1-hESC	embryonic stem cell:	embryo
48	chr3:141377105-141377155	HCM	heart:	n/a
49	chr3:141377105-141377155	HMEC	breast:	n/a
50	chr3:141377105-141377155	GM19239	blood:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141377266..141379551-chr3:141385595..141387849,2	MCF-7	breast:
2	chr3:141367784..141370047-chr3:141375243..141376889,2	K562	blood:
3	chr3:141371342..141373237-chr3:141379412..141381256,2	MCF-7	breast:
4	chr3:141364553..141367355-chr3:141371924..141373576,2	MCF-7	breast:
5	chr3:141364236..141365914-chr3:141370366..141373121,2	MCF-7	breast:
6	chr3:141376839..141379290-chr3:141593720..141595646,2	MCF-7	breast:
7	chr3:141364533..141367449-chr3:141374437..141376349,2	K562	blood:
8	chr3:141372633..141374845-chr3:141595464..141597905,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242104	TF binding region
ENSG00000242104	CpG island
ENSG00000069849	chromatin interactions

Extended variants
information (count: 166 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs9289637	chr3:141372391-141372392	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555511112	chr3:141372413-141372414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140928862	chr3:141372440-141372441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541144678	chr3:141372441-141372442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553511412	chr3:141372447-141372448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571912818	chr3:141372494-141372495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs16851594	chr3:141372520-141372521	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568157149	chr3:141372602-141372603	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs371143074	chr3:141372603-141372604	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs531544285	chr3:141372621-141372622	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs193077119	chr3:141372630-141372631	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs201844398	chr3:141372691-141372692	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113794756	chr3:141372693-141372694	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373342918	chr3:141372694-141372695	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs34241224	chr3:141372825-141372826	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs184502456	chr3:141372898-141372899	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547521915	chr3:141372951-141372952	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376115417	chr3:141372954-141372955	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11274494	chr3:141372959-141372960	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs189069357	chr3:141373003-141373004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181461968	chr3:141373036-141373037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547216222	chr3:141373073-141373074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185613982	chr3:141373131-141373132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143253264	chr3:141373186-141373187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35525526	chr3:141373190-141373191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567332938	chr3:141373218-141373219	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534749042	chr3:141373228-141373229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs188467781	chr3:141373261-141373262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371059265	chr3:141373280-141373281	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75993401	chr3:141373350-141373351	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373321878	chr3:141373376-141373377	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562432113	chr3:141373379-141373380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs397739428	chr3:141373403-141373404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs539357265	chr3:141373425-141373426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181712671	chr3:141373465-141373466	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550287860	chr3:141373472-141373473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543366056	chr3:141373473-141373474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564806024	chr3:141373497-141373498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs185835243	chr3:141373588-141373589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs139423913	chr3:141373625-141373626	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs149662467	chr3:141373679-141373680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs559481002	chr3:141373759-141373760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533093966	chr3:141373767-141373768	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190928748	chr3:141373788-141373789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs6805124	chr3:141373798-141373799	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531196199	chr3:141373808-141373809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs549415134	chr3:141373811-141373812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs548409935	chr3:141373832-141373833	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs567666265	chr3:141373843-141373844	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148421518	chr3:141373859-141373860	Weak transcription	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
Breast cancer	21785460	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141364400-141377600	Weak transcription	Aorta	Aorta
2	chr3:141369600-141373400	Enhancers	Colon Smooth Muscle	Colon
3	chr3:141370600-141373000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:141370800-141373400	Enhancers	Rectal Smooth Muscle	rectum
5	chr3:141371600-141372400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:141371600-141372600	Weak transcription	K562	blood
7	chr3:141372000-141376000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:141372200-141372800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:141372200-141373000	Enhancers	Fetal Stomach	stomach
10	chr3:141372400-141372600	Enhancers	Fetal Lung	lung
11	chr3:141372400-141373000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:141372600-141372800	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr3:141372600-141373200	Enhancers	K562	blood
14	chr3:141372800-141373000	Enhancers	Fetal Heart	heart
15	chr3:141373000-141373800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:141373200-141374200	Weak transcription	K562	blood
17	chr3:141373400-141375000	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:141374000-141374600	Enhancers	Placenta	Placenta
19	chr3:141374200-141376200	Enhancers	K562	blood
20	chr3:141374400-141376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:141374400-141376400	Enhancers	NHDF-Ad	bronchial
22	chr3:141374600-141376000	Weak transcription	Placenta	Placenta
23	chr3:141375000-141375200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr3:141375000-141376200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:141375000-141376200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:141375000-141376400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:141375000-141376400	Enhancers	Colon Smooth Muscle	Colon
28	chr3:141375200-141376400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:141375200-141376800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:141375400-141376200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:141375600-141375800	Enhancers	Rectal Smooth Muscle	rectum
32	chr3:141375600-141376000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr3:141375600-141376000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:141375600-141376000	Enhancers	Osteobl	bone
35	chr3:141375800-141376000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:141375800-141376000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr3:141375800-141376800	ZNF genes & repeats	Liver	Liver
38	chr3:141376000-141376200	Enhancers	HMEC	breast
39	chr3:141376000-141376200	Bivalent Enhancer	NHEK	skin
40	chr3:141376000-141376400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
41	chr3:141376000-141376400	Enhancers	Placenta	Placenta
42	chr3:141376000-141377200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr3:141376200-141376400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
44	chr3:141376200-141376600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:141376200-141378200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:141376400-141376600	Bivalent Enhancer	NHDF-Ad	bronchial
47	chr3:141376400-141377200	Weak transcription	Placenta	Placenta
48	chr3:141376400-141377600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:141376400-141377600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr3:141376600-141376800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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