Variant report

Variant	nsv967095
Chromosome Location	chr3:179181609-179184266
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr3:179182162-179182348	K562	blood:	n/a	n/a
2	CBX3	chr3:179182140-179182493	K562	blood:	n/a	n/a
3	CEBPB	chr3:179182107-179182572	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:179181680-179181830	HFF-Myc	foreskin:	n/a	n/a
5	CTCF	chr3:179182140-179182217	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:179182313-179182353	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:179182152-179182187	MCF-7	breast:	n/a	n/a
8	EGR1	chr3:179182190-179182422	K562	blood:	n/a	n/a
9	ELF1	chr3:179181925-179182514	MCF-7	breast:	n/a	chr3:179182279-179182292
10	ELF1	chr3:179182100-179182482	K562	blood:	n/a	chr3:179182279-179182292
11	ELF1	chr3:179181986-179182552	MCF-7	breast:	n/a	chr3:179182279-179182292
12	EP300	chr3:179182051-179182469	T-47D	breast:	n/a	n/a
13	EP300	chr3:179182210-179182288	K562	blood:	n/a	n/a
14	EP300	chr3:179182035-179182574	T-47D	breast:	n/a	n/a
15	ESR1	chr3:179183634-179184076	ECC-1	luminal epithelium:	n/a	n/a
16	ESR1	chr3:179183648-179184006	ECC-1	luminal epithelium:	n/a	n/a
17	ESR1	chr3:179183619-179184109	ECC-1	luminal epithelium:	n/a	n/a
18	FOXA1	chr3:179182045-179182505	T-47D	breast:	n/a	n/a
19	FOXP2	chr3:179182214-179182415	PFSK-1	brain:	n/a	n/a
20	GATA3	chr3:179182083-179182568	T-47D	breast:	n/a	n/a
21	GATA3	chr3:179182078-179182525	T-47D	breast:	n/a	n/a
22	MAX	chr3:179181950-179182561	MCF-7	breast:	n/a	n/a
23	MAX	chr3:179182136-179182243	NB4	blood:	n/a	n/a
24	MAX	chr3:179182102-179182482	K562	blood:	n/a	n/a
25	MYC	chr3:179182183-179182347	MCF10A-Er-Src	breast:	n/a	n/a
26	MYC	chr3:179182144-179182421	MCF-7	breast:	n/a	n/a
27	MYC	chr3:179182201-179182393	MCF-7	breast:	n/a	n/a
28	MYC	chr3:179182042-179182397	MCF-7	breast:	n/a	n/a
29	MYC	chr3:179182146-179182203	MCF-7	breast:	n/a	n/a
30	POLR2A	chr3:179181918-179182580	HL-60	blood:	n/a	n/a
31	POLR2A	chr3:179181908-179182658	HL-60	blood:	n/a	n/a
32	POLR2A	chr3:179182594-179182666	Gliobla	brain:	n/a	n/a
33	POLR2A	chr3:179182053-179182365	MCF-7	breast:	n/a	n/a
34	POLR2A	chr3:179182215-179182405	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr3:179182144-179182429	MCF-7	breast:	n/a	n/a
36	POLR2A	chr3:179182028-179182404	MCF-7	breast:	n/a	n/a
37	POLR2A	chr3:179182580-179182589	Gliobla	brain:	n/a	n/a
38	SPI1	chr3:179181928-179182566	HL-60	blood:	n/a	n/a
39	SPI1	chr3:179182196-179182368	GM12878	blood:	n/a	n/a
40	SPI1	chr3:179182163-179182389	K562	blood:	n/a	n/a
41	TBP	chr3:179182207-179182329	K562	blood:	n/a	n/a
42	TEAD4	chr3:179182500-179182858	H1-hESC	embryonic stem cell:	n/a	n/a
43	TEAD4	chr3:179182453-179182916	H1-hESC	embryonic stem cell:	n/a	n/a
44	ZNF217	chr3:179182203-179182619	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
MTHFD2P7	TF binding region

Extended variants
information (count: 112 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368779796	chr3:179181676-179181677	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531916394	chr3:179181697-179181698	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs79183483	chr3:179181733-179181734	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs145033498	chr3:179181734-179181735	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs533933766	chr3:179181751-179181752	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547532087	chr3:179181771-179181772	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377671899	chr3:179181853-179181854	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147529052	chr3:179181861-179181862	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569562085	chr3:179181876-179181877	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539226745	chr3:179181910-179181911	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556349446	chr3:179181912-179181913	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs189559893	chr3:179181919-179181920	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs535786249	chr3:179181971-179181972	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs180836458	chr3:179181999-179182000	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs572032636	chr3:179182000-179182001	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531933413	chr3:179182043-179182044	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs35280081	chr3:179182047-179182048	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs541037606	chr3:179182060-179182061	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs563997486	chr3:179182092-179182093	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs577698304	chr3:179182123-179182124	Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs372189886	chr3:179182141-179182142	Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs1185301	chr3:179182208-179182209	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs546068657	chr3:179182209-179182210	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs563140730	chr3:179182225-179182226	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs531882294	chr3:179182245-179182246	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs548425538	chr3:179182299-179182300	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs562051438	chr3:179182332-179182333	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs527642705	chr3:179182338-179182339	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs201455628	chr3:179182362-179182363	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs73047202	chr3:179182443-179182444	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs11711055	chr3:179182472-179182473	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs539956247	chr3:179182518-179182519	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549700356	chr3:179182590-179182591	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186554834	chr3:179182623-179182624	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535657701	chr3:179182624-179182625	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555667388	chr3:179182654-179182655	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs369573824	chr3:179182691-179182692	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs566002481	chr3:179182708-179182709	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs534341427	chr3:179182709-179182710	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs534301085	chr3:179182760-179182761	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs557772162	chr3:179182761-179182762	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554352469	chr3:179182785-179182786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs548072894	chr3:179182794-179182795	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs564496365	chr3:179182826-179182827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570843689	chr3:179182839-179182840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577657028	chr3:179182843-179182844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543553124	chr3:179182844-179182845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556643310	chr3:179182878-179182879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2229525	chr3:179182883-179182884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371871721	chr3:179182886-179182887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	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
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
epilepsy	18472482	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Myxofibrosarcoma	16751306	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Anaplastic thyroid cancer	17989125	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Ovarian cancer	18208621	CNVD
Thyroid cancer	17317825	CNVD
Thyroid cancer	17989125	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	21806811	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	19653912	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Prostate cancer	18632612	CNVD
Esophageal squamous carcinoma	17470683	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179174000-179182000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:179180000-179183000	Enhancers	Primary hematopoietic stem cells	blood
3	chr3:179180800-179181800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr3:179181000-179182200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:179181200-179181800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:179181200-179182800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:179181400-179181800	Weak transcription	HMEC	breast
8	chr3:179181400-179182000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr3:179181400-179182000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr3:179181400-179182200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr3:179181400-179183000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:179181600-179182800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:179181800-179182000	Enhancers	HMEC	breast
14	chr3:179181800-179182200	Enhancers	Lung	lung
15	chr3:179181800-179182400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr3:179181800-179182400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr3:179181800-179182600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:179181800-179182800	Enhancers	Primary B cells from peripheral blood	blood
19	chr3:179181800-179182800	Enhancers	Esophagus	oesophagus
20	chr3:179181800-179182800	Enhancers	Placenta	Placenta
21	chr3:179181800-179183000	Enhancers	Fetal Thymus	thymus
22	chr3:179181800-179183200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:179182000-179182200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr3:179182000-179182200	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr3:179182000-179182200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr3:179182000-179182200	Enhancers	Brain Substantia Nigra	brain
27	chr3:179182000-179182200	Enhancers	NHEK	skin
28	chr3:179182000-179182400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr3:179182000-179182400	Enhancers	Fetal Muscle Trunk	muscle
30	chr3:179182000-179182400	Enhancers	Left Ventricle	heart
31	chr3:179182000-179182600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:179182000-179182600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:179182000-179182600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:179182000-179182600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr3:179182000-179182600	Enhancers	Thymus	Thymus
36	chr3:179182000-179182600	Flanking Active TSS	HMEC	breast
37	chr3:179182000-179183000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr3:179182200-179182400	Enhancers	Primary B cells from cord blood	blood
39	chr3:179182200-179182400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:179182200-179182400	Enhancers	Brain Angular Gyrus	brain
41	chr3:179182200-179182600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr3:179182200-179182600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr3:179182200-179182600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr3:179182200-179182600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr3:179182200-179182600	Active TSS	Brain Hippocampus Middle	brain
46	chr3:179182200-179182600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:179182200-179182600	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr3:179182200-179182600	Enhancers	Fetal Kidney	kidney
49	chr3:179182200-179182600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr3:179182200-179182600	Flanking Active TSS	NHEK	skin

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