Variant report

Variant	nsv518007
Chromosome Location	chr12:66922606-66935080
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr12:66927501-66927946	GM12878	blood:	n/a	n/a
2	CTCF	chr12:66929980-66930130	GM12873	blood:	n/a	n/a
3	E2F4	chr12:66931327-66931377	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr12:66931524-66932162	SK-N-SH	brain:	n/a	n/a
5	FOS	chr12:66923761-66923943	MCF10A-Er-Src	breast:	n/a	chr12:66923887-66923898 chr12:66923888-66923898 chr12:66923888-66923897 chr12:66923888-66923898 chr12:66923931-66923940
6	FOS	chr12:66923852-66923957	MCF10A-Er-Src	breast:	n/a	chr12:66923887-66923898 chr12:66923888-66923898 chr12:66923888-66923897 chr12:66923888-66923898 chr12:66923931-66923940
7	FOS	chr12:66923698-66924156	HUVEC	blood vessel:	n/a	chr12:66923887-66923898 chr12:66923888-66923898 chr12:66923888-66923897 chr12:66923888-66923898 chr12:66923931-66923940
8	FOS	chr12:66926004-66926083	MCF10A-Er-Src	breast:	n/a	chr12:66926067-66926076 chr12:66926067-66926075 chr12:66926066-66926075 chr12:66926067-66926074 chr12:66926065-66926077
9	GATA2	chr12:66931583-66932565	SH-SY5Y	brain:	n/a	n/a
10	GATA2	chr12:66923775-66924340	HUVEC	blood vessel:	n/a	chr12:66923951-66923972 chr12:66923953-66923969 chr12:66923931-66923941 chr12:66923958-66923965 chr12:66923958-66923965 chr12:66923958-66923965
11	GATA3	chr12:66931566-66931977	SH-SY5Y	brain:	n/a	n/a
12	JUN	chr12:66923782-66924075	HUVEC	blood vessel:	n/a	chr12:66923888-66923898 chr12:66923888-66923897 chr12:66923888-66923898 chr12:66923931-66923940
13	JUN	chr12:66932818-66933087	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr12:66932768-66933171	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr12:66932772-66933106	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr12:66926135-66926143	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr12:66932828-66933045	H1-hESC	embryonic stem cell:	n/a	n/a
18	MYC	chr12:66924336-66924512	MCF10A-Er-Src	breast:	n/a	n/a
19	NFIC	chr12:66923675-66924052	GM12878	blood:	n/a	n/a
20	RCOR1	chr12:66927572-66927784	K562	blood:	n/a	n/a
21	RUNX3	chr12:66927433-66927908	GM12878	blood:	n/a	n/a
22	RUNX3	chr12:66927482-66927907	GM12878	blood:	n/a	n/a
23	SPI1	chr12:66932812-66933182	HL-60	blood:	n/a	n/a
24	STAT3	chr12:66934303-66934427	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr12:66928949-66928988	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr12:66931604-66931746	MCF10A-Er-Src	breast:	n/a	n/a
27	TEAD4	chr12:66932767-66933182	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr12:66932777-66933149	ECC-1	luminal epithelium:	n/a	n/a
29	TEAD4	chr12:66927558-66927853	K562	blood:	n/a	n/a
30	TEAD4	chr12:66932676-66933142	ECC-1	luminal epithelium:	n/a	n/a
31	TEAD4	chr12:66932777-66933132	H1-hESC	embryonic stem cell:	n/a	n/a
32	USF1	chr12:66926178-66926520	H1-hESC	embryonic stem cell:	n/a	n/a
33	USF1	chr12:66926175-66926531	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF384	chr12:66931960-66931975	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:66924711..66926666-chr12:67101075..67103092,2	MCF-7	breast:
2	chr12:66930710..66933060-chr12:66933973..66935708,2	MCF-7	breast:
3	chr12:66934881..66936462-chr12:66943891..66946152,2	MCF-7	breast:

Variant related genes	Relation type
GRIP1	TF binding region
ENSG00000155974	chromatin interactions

Extended variants
information (count: 482 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7971370	chr12:66922606-66922607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368429770	chr12:66922620-66922621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553021385	chr12:66922641-66922642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs180761595	chr12:66922651-66922652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567711808	chr12:66922723-66922724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571647781	chr12:66922726-66922727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535110576	chr12:66922733-66922734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146391925	chr12:66922750-66922751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578073297	chr12:66922761-66922762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545605652	chr12:66922767-66922768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369559324	chr12:66922777-66922778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575877944	chr12:66922812-66922813	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs542978080	chr12:66922815-66922816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561338979	chr12:66922843-66922844	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs186447965	chr12:66922879-66922880	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs545592473	chr12:66922913-66922914	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs557408751	chr12:66922914-66922915	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190863527	chr12:66922949-66922950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs371481848	chr12:66923049-66923050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs7974552	chr12:66923064-66923065	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115316080	chr12:66923087-66923088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs147949180	chr12:66923110-66923111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181720945	chr12:66923128-66923129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs554818221	chr12:66923137-66923138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs530833328	chr12:66923140-66923141	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs2904512	chr12:66923159-66923160	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs56201070	chr12:66923174-66923175	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542366861	chr12:66923191-66923192	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs373471986	chr12:66923216-66923217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs147122320	chr12:66923268-66923269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148137003	chr12:66923291-66923292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372241049	chr12:66923327-66923328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562092816	chr12:66923338-66923339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575793777	chr12:66923398-66923399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186950320	chr12:66923408-66923409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191289278	chr12:66923419-66923420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56366511	chr12:66923462-66923463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371685208	chr12:66923466-66923467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540641672	chr12:66923473-66923474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559121555	chr12:66923474-66923475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577647838	chr12:66923479-66923480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544824719	chr12:66923522-66923523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563490564	chr12:66923537-66923538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs183339429	chr12:66923573-66923574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371853373	chr12:66923574-66923575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550041808	chr12:66923598-66923599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549250405	chr12:66923621-66923622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376743837	chr12:66923664-66923665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200211966	chr12:66923667-66923668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199791738	chr12:66923692-66923693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66910200-66932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:66911400-66938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:66921000-66933000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:66921600-66926200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:66922800-66923200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr12:66923200-66926000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:66923600-66924400	Enhancers	HUVEC	blood vessel
8	chr12:66923800-66924000	Enhancers	Fetal Brain Female	brain
9	chr12:66924200-66925400	Weak transcription	Fetal Brain Female	brain
10	chr12:66924600-66925000	Enhancers	Fetal Brain Male	brain
11	chr12:66925000-66925200	Weak transcription	Fetal Brain Male	brain
12	chr12:66925200-66925600	Enhancers	Fetal Brain Male	brain
13	chr12:66925200-66926600	Enhancers	Brain Germinal Matrix	brain
14	chr12:66925400-66926600	Enhancers	Fetal Brain Female	brain
15	chr12:66925600-66932200	Weak transcription	Fetal Brain Male	brain
16	chr12:66926000-66926400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:66926000-66926600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:66926000-66926600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:66926200-66926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:66926200-66926600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:66926200-66926600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr12:66926200-66926600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:66926200-66926600	Enhancers	Gastric	stomach
24	chr12:66926200-66926800	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:66926400-66926600	Enhancers	Pancreas	Pancrea
26	chr12:66926400-66929600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:66926600-66929800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:66926600-66931000	Weak transcription	Fetal Brain Female	brain
29	chr12:66926600-66932800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:66926600-66933000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:66926800-66930200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:66928800-66930000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:66928800-66933000	Weak transcription	Pancreas	Pancrea
34	chr12:66929400-66930200	Enhancers	Fetal Intestine Small	intestine
35	chr12:66929600-66930400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:66929800-66930400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:66929800-66930400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:66930000-66930400	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:66930200-66930600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:66930400-66933000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:66930400-66933000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:66930400-66938000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr12:66930600-66930800	Enhancers	Fetal Intestine Small	intestine
44	chr12:66930800-66932800	Weak transcription	Fetal Intestine Small	intestine
45	chr12:66931000-66933600	Enhancers	Fetal Brain Female	brain
46	chr12:66932200-66934200	Enhancers	Fetal Brain Male	brain
47	chr12:66932800-66933200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:66932800-66933200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr12:66932800-66933200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:66932800-66933200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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