Variant report

Variant	nsv967074
Chromosome Location	chr3:139212902-139216662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:139214010-139214062	LNCaP	prostate:	n/a	n/a
2	HEY1	chr3:139213854-139214178	K562	blood:	n/a	n/a
3	HEY1	chr3:139213484-139213802	K562	blood:	n/a	n/a
4	JUN	chr3:139212779-139212910	HepG2	liver:	n/a	chr3:139212872-139212885
5	JUND	chr3:139212712-139213056	HepG2	liver:	n/a	n/a
6	MYC	chr3:139213275-139213281	MCF-7	breast:	n/a	n/a
7	MYC	chr3:139213285-139213385	MCF-7	breast:	n/a	n/a
8	NRF1	chr3:139215024-139215080	K562	blood:	n/a	n/a
9	POLR2A	chr3:139212965-139213046	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:139213674-139213702	Gliobla	brain:	n/a	n/a
11	POLR2A	chr3:139213359-139213362	MCF-7	breast:	n/a	n/a
12	POLR2A	chr3:139213476-139213619	ProgFib	skin:	n/a	n/a
13	POLR2A	chr3:139213951-139214282	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr3:139213880-139214154	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:139213284-139213292	MCF-7	breast:	n/a	n/a
16	POLR2A	chr3:139213852-139214224	GM12892	blood:	n/a	n/a
17	POLR2A	chr3:139213528-139213764	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr3:139213583-139213759	GM12878	blood:	n/a	n/a
19	POLR2A	chr3:139213851-139214235	GM12891	blood:	n/a	n/a
20	POLR2A	chr3:139213863-139214205	GM12878	blood:	n/a	n/a
21	POLR2A	chr3:139213486-139213781	GM12891	blood:	n/a	n/a
22	POLR2A	chr3:139213483-139213808	GM12892	blood:	n/a	n/a
23	POLR2A	chr3:139213991-139214177	GM12878	blood:	n/a	n/a
24	POLR2A	chr3:139212963-139213281	MCF-7	breast:	n/a	n/a
25	POLR2A	chr3:139213861-139214080	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr3:139213514-139213780	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr3:139213484-139213781	GM12878	blood:	n/a	n/a
28	POLR2A	chr3:139213359-139214247	GM12892	blood:	n/a	n/a
29	POLR2A	chr3:139213373-139214241	GM12892	blood:	n/a	n/a
30	POLR2A	chr3:139212683-139213352	MCF-7	breast:	n/a	n/a
31	POLR2A	chr3:139213376-139214242	GM12878	blood:	n/a	n/a
32	POLR2A	chr3:139213326-139213620	MCF-7	breast:	n/a	n/a
33	POLR2A	chr3:139213817-139214223	GM12892	blood:	n/a	n/a
34	POLR2A	chr3:139213618-139213775	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:139213525-139213763	A549	lung:	n/a	n/a
36	POLR2A	chr3:139213864-139214208	GM12891	blood:	n/a	n/a
37	POU2F2	chr3:139214010-139214145	GM12878	blood:	n/a	n/a
38	PRDM1	chr3:139216377-139216464	Hela-S3	cervix:	n/a	n/a
39	SETDB1	chr3:139214876-139215280	U2OS	brain:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000263538	TF binding region

Extended variants
information (count: 155 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs111736347	chr3:139212911-139212912	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs573283885	chr3:139212931-139212932	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547497961	chr3:139212956-139212957	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs542099348	chr3:139212986-139212987	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184483409	chr3:139212987-139212988	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs575379421	chr3:139213013-139213014	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs189183751	chr3:139213066-139213067	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374066552	chr3:139213075-139213076	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374939992	chr3:139213102-139213103	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs181670016	chr3:139213103-139213104	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs540330285	chr3:139213111-139213112	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs184778106	chr3:139213141-139213142	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567274880	chr3:139213160-139213161	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs529688475	chr3:139213172-139213173	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs528876906	chr3:139213176-139213177	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548442120	chr3:139213188-139213189	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs143019552	chr3:139213199-139213200	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs531113551	chr3:139213218-139213219	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs144339938	chr3:139213231-139213232	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs570915849	chr3:139213240-139213241	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs148343805	chr3:139213242-139213243	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs141477084	chr3:139213257-139213258	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368769765	chr3:139213269-139213270	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs566838325	chr3:139213316-139213317	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs535884838	chr3:139213348-139213349	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs7647091	chr3:139213384-139213385	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150861189	chr3:139213386-139213387	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs180679855	chr3:139213408-139213409	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs114216242	chr3:139213413-139213414	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs186269110	chr3:139213419-139213420	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs577769124	chr3:139213420-139213421	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs539910662	chr3:139213431-139213432	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191143802	chr3:139213435-139213436	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs528845950	chr3:139213441-139213442	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs542246347	chr3:139213444-139213445	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs181306372	chr3:139213446-139213447	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569493486	chr3:139213547-139213548	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531151171	chr3:139213550-139213551	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75295569	chr3:139213589-139213590	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139957686	chr3:139213597-139213598	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533595468	chr3:139213607-139213608	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536108198	chr3:139213619-139213620	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566999272	chr3:139213622-139213623	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs407958	chr3:139213632-139213633	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549439224	chr3:139213633-139213634	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145396041	chr3:139213689-139213690	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185769782	chr3:139213697-139213698	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558051539	chr3:139213705-139213706	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577726931	chr3:139213711-139213712	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74426841	chr3:139213741-139213742	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	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
Cancer	21129771	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
Multiple myeloma	17550852	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
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139208000-139215400	Weak transcription	Fetal Kidney	kidney
2	chr3:139208200-139249600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:139209200-139213000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:139210400-139217200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:139210800-139215000	Weak transcription	Fetal Intestine Large	intestine
6	chr3:139211400-139213200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:139211400-139213200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:139211800-139214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:139212600-139213000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
10	chr3:139212600-139213200	ZNF genes & repeats	Fetal Stomach	stomach
11	chr3:139212600-139213200	Strong transcription	Gastric	stomach
12	chr3:139212600-139213400	Strong transcription	Brain Substantia Nigra	brain
13	chr3:139212600-139213400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
14	chr3:139212600-139213600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:139212600-139213600	ZNF genes & repeats	Esophagus	oesophagus
16	chr3:139212600-139213800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr3:139212600-139213800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:139212600-139213800	ZNF genes & repeats	Spleen	Spleen
19	chr3:139212800-139213400	Strong transcription	Pancreatic Islets	Pancreatic Islet
20	chr3:139212800-139213400	Strong transcription	Ovary	ovary
21	chr3:139212800-139213400	Genic enhancers	Pancreas	Pancrea
22	chr3:139212800-139213400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr3:139212800-139213600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:139212800-139213600	ZNF genes & repeats	Lung	lung
25	chr3:139212800-139213800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:139212800-139213800	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr3:139213000-139213600	Strong transcription	Brain Cingulate Gyrus	brain
28	chr3:139213000-139213600	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
29	chr3:139213200-139213400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
30	chr3:139213200-139228400	Weak transcription	Gastric	stomach
31	chr3:139213400-139214400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr3:139213400-139214600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr3:139213400-139234200	Weak transcription	Ovary	ovary
34	chr3:139213400-139235600	Weak transcription	Pancreas	Pancrea
35	chr3:139213400-139235600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr3:139213400-139239000	Weak transcription	Brain Substantia Nigra	brain
37	chr3:139213600-139214200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr3:139213600-139214200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr3:139213600-139215000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr3:139213600-139234800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:139213800-139215400	Weak transcription	Spleen	Spleen
42	chr3:139213800-139216400	Weak transcription	Fetal Intestine Small	intestine
43	chr3:139215000-139215200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr3:139215400-139218400	Weak transcription	Fetal Intestine Large	intestine
45	chr3:139216600-139217000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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