Variant report

Variant	nsv521013
Chromosome Location	chr2:46812338-46817644
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	CEBPB	chr2:46817582-46817810	H1-hESC	embryonic stem cell:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
2	CEBPB	chr2:46817525-46817811	HepG2	liver:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
3	CEBPB	chr2:46816541-46816862	MCF-7	breast:	n/a	n/a
4	CEBPB	chr2:46817515-46817816	IMR90	lung:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
5	CEBPB	chr2:46817547-46817735	A549	lung:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
6	CEBPB	chr2:46817513-46817819	K562	blood:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
7	CEBPB	chr2:46817569-46817723	Hela-S3	cervix:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
8	CTCF	chr2:46815200-46815350	NHDF-neo	bronchial:	n/a	n/a
9	CTCF	chr2:46815100-46815250	GM12864	blood:	n/a	n/a
10	CTCF	chr2:46815100-46815250	AG10803	skin:	n/a	n/a
11	EP300	chr2:46816507-46816945	T-47D	breast:	n/a	n/a
12	FOXA1	chr2:46815839-46816366	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:46816565-46816844	T-47D	breast:	n/a	n/a
14	GATA2	chr2:46813656-46813814	SH-SY5Y	brain:	n/a	n/a
15	GATA2	chr2:46814495-46814530	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr2:46814206-46814591	SH-SY5Y	brain:	n/a	n/a
17	GATA3	chr2:46816518-46816963	T-47D	breast:	n/a	chr2:46816903-46816913 chr2:46816904-46816911 chr2:46816900-46816916 chr2:46816904-46816913 chr2:46816902-46816914
18	GATA3	chr2:46816313-46817147	MCF-7	breast:	n/a	chr2:46816903-46816913 chr2:46816904-46816911 chr2:46816900-46816916 chr2:46816904-46816913 chr2:46816902-46816914
19	GATA3	chr2:46816539-46816883	T-47D	breast:	n/a	n/a
20	GATA3	chr2:46815658-46815828	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr2:46813588-46813718	SH-SY5Y	brain:	n/a	chr2:46813624-46813633
22	GATA3	chr2:46816953-46817041	SH-SY5Y	brain:	n/a	n/a
23	GATA3	chr2:46816464-46817011	MCF-7	breast:	n/a	chr2:46816903-46816913 chr2:46816904-46816911 chr2:46816900-46816916 chr2:46816904-46816913 chr2:46816902-46816914
24	JUN	chr2:46817544-46817802	HepG2	liver:	n/a	chr2:46817651-46817664
25	KAP1	chr2:46813597-46813977	K562	blood:	n/a	n/a
26	POLR2A	chr2:46814186-46814333	ProgFib	skin:	n/a	n/a
27	POLR2A	chr2:46813096-46813472	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:46814673-46815122	U87	brain:	n/a	n/a
29	POLR2A	chr2:46816637-46816799	MCF-7	breast:	n/a	n/a
30	POLR2A	chr2:46812812-46812901	ProgFib	skin:	n/a	n/a
31	POLR2A	chr2:46816145-46816740	U87	brain:	n/a	n/a
32	POLR2A	chr2:46815356-46815555	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr2:46814885-46814918	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr2:46816804-46816805	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:46811567-46816814	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:46816244-46816847	K562	blood:	n/a	n/a
37	POLR2A	chr2:46816546-46816548	MCF-7	breast:	n/a	n/a
38	POLR2A	chr2:46810268-46815955	K562	blood:	n/a	n/a
39	POLR2A	chr2:46815562-46815836	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr2:46815688-46815803	ProgFib	skin:	n/a	n/a
41	POLR2A	chr2:46816968-46817168	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:46817596-46818130	U87	brain:	n/a	n/a
43	POLR2A	chr2:46814917-46815233	A549	lung:	n/a	n/a
44	POLR2A	chr2:46816679-46816763	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:46815008-46815461	SK-N-SH	brain:	n/a	n/a
46	POLR2A	chr2:46817561-46817612	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr2:46813647-46814019	U87	brain:	n/a	n/a
48	POLR2A	chr2:46815086-46815143	MCF-7	breast:	n/a	n/a
49	POLR2A	chr2:46816631-46816653	GM12878	blood:	n/a	n/a
50	RFX5	chr2:46814415-46814480	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46790452..46793427-chr2:46811827..46814978,3	MCF-7	breast:
2	chr2:46811229..46813597-chr2:46844623..46846343,2	K562	blood:
3	chr2:46816715..46818708-chr2:46827949..46829642,2	K562	blood:
4	chr2:46769235..46772209-chr2:46814826..46816628,2	K562	blood:
5	chr2:46806441..46809201-chr2:46813800..46815335,2	K562	blood:

Variant related genes	Relation type
PIGF	TF binding region
ENSG00000250116	TF binding region
ENSG00000250116	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000250565	chromatin interactions

Extended variants
information (count: 192 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:192 , 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	rs1376406	chr2:46812338-46812339	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147005562	chr2:46812378-46812379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113292474	chr2:46812418-46812419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139880094	chr2:46812442-46812443	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544417044	chr2:46812453-46812454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532555591	chr2:46812480-46812481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574466910	chr2:46812583-46812584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541872600	chr2:46812628-46812629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147625019	chr2:46812639-46812640	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547334597	chr2:46812643-46812644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142164053	chr2:46812678-46812679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562745431	chr2:46812685-46812686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545635225	chr2:46812705-46812706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370481083	chr2:46812730-46812731	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564305787	chr2:46812731-46812732	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528315865	chr2:46812737-46812738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559684091	chr2:46812754-46812755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540121149	chr2:46812782-46812783	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145873288	chr2:46812811-46812812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184370275	chr2:46812821-46812822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189894755	chr2:46812868-46812869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373339007	chr2:46812910-46812911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141047970	chr2:46812918-46812919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77466363	chr2:46812930-46812931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529985809	chr2:46812939-46812940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568967954	chr2:46812940-46812941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533470071	chr2:46812990-46812991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181169805	chr2:46813003-46813004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569551309	chr2:46813013-46813014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534160732	chr2:46813032-46813033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184799119	chr2:46813037-46813038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567977567	chr2:46813056-46813057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189318575	chr2:46813066-46813067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557001820	chr2:46813107-46813108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs180862516	chr2:46813112-46813113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552262377	chr2:46813113-46813114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570310199	chr2:46813135-46813136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186454454	chr2:46813173-46813174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572972194	chr2:46813205-46813206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113764273	chr2:46813206-46813207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540061309	chr2:46813218-46813219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75359015	chr2:46813294-46813295	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529158066	chr2:46813303-46813304	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190719709	chr2:46813329-46813330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562897530	chr2:46813331-46813332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533209057	chr2:46813332-46813333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138700383	chr2:46813368-46813369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371190521	chr2:46813444-46813445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs141157927	chr2:46813459-46813460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150289421	chr2:46813470-46813471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46771200-46812800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:46775600-46815800	Weak transcription	Fetal Brain Female	brain
3	chr2:46783600-46838000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:46790000-46842000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr2:46796600-46822000	Weak transcription	Fetal Brain Male	brain
6	chr2:46796800-46838000	Weak transcription	Fetal Kidney	kidney
7	chr2:46796800-46842800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:46797800-46814400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:46797800-46841000	Weak transcription	K562	blood
10	chr2:46798200-46838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:46801200-46815000	Weak transcription	Psoas Muscle	Psoas
12	chr2:46802400-46815000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:46802400-46842600	Weak transcription	NHEK	skin
14	chr2:46802800-46837000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:46803400-46818800	Weak transcription	HepG2	liver
16	chr2:46803400-46842800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:46805600-46815600	Weak transcription	Fetal Lung	lung
18	chr2:46805600-46836400	Weak transcription	HSMM	muscle
19	chr2:46806600-46813600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:46806600-46818800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:46807200-46816800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr2:46807400-46821200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:46807600-46812400	Weak transcription	Small Intestine	intestine
24	chr2:46807600-46821200	Weak transcription	Thymus	Thymus
25	chr2:46807600-46828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:46807600-46842400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:46807600-46842600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:46807800-46814400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:46807800-46816800	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:46807800-46818000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:46807800-46819400	Weak transcription	Dnd41	blood
32	chr2:46807800-46821600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:46807800-46821600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:46807800-46824600	Weak transcription	Fetal Intestine Small	intestine
35	chr2:46807800-46825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:46807800-46828400	Weak transcription	Brain Substantia Nigra	brain
37	chr2:46807800-46835200	Weak transcription	Fetal Intestine Large	intestine
38	chr2:46807800-46835200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr2:46807800-46835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:46807800-46835400	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:46807800-46836400	Weak transcription	Primary T cells from cord blood	blood
42	chr2:46807800-46842400	Weak transcription	NHLF	lung
43	chr2:46807800-46842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:46807800-46842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:46807800-46842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr2:46807800-46842800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:46807800-46842800	Weak transcription	HSMMtube	muscle
48	chr2:46807800-46843000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:46807800-46843000	Weak transcription	Fetal Stomach	stomach
50	chr2:46807800-46843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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