Variant report

Variant	esv3440660
Chromosome Location	chr2:46817659-46823480
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	BACH1	chr2:46818823-46818868	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr2:46817525-46817811	HepG2	liver:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
3	CEBPB	chr2:46817547-46817735	A549	lung:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
4	CEBPB	chr2:46817569-46817723	Hela-S3	cervix:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
5	CEBPB	chr2:46817513-46817819	K562	blood:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
6	CEBPB	chr2:46817515-46817816	IMR90	lung:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
7	CEBPB	chr2:46817582-46817810	H1-hESC	embryonic stem cell:	n/a	chr2:46817647-46817664 chr2:46817650-46817661
8	FOS	chr2:46821288-46821473	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr2:46821327-46821385	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA1	chr2:46819338-46819665	T-47D	breast:	n/a	n/a
11	GATA3	chr2:46819265-46819760	T-47D	breast:	n/a	n/a
12	GATA3	chr2:46819270-46819738	T-47D	breast:	n/a	n/a
13	JUN	chr2:46823386-46823486	H1-hESC	embryonic stem cell:	n/a	chr2:46823403-46823412
14	JUN	chr2:46817544-46817802	HepG2	liver:	n/a	chr2:46817651-46817664
15	POLR2A	chr2:46821642-46821815	MCF-7	breast:	n/a	n/a
16	POLR2A	chr2:46817596-46818130	U87	brain:	n/a	n/a
17	POLR2A	chr2:46818732-46818809	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr2:46817877-46818120	K562	blood:	n/a	n/a
19	POLR2A	chr2:46819996-46820056	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:46818116-46818134	ProgFib	skin:	n/a	n/a
21	POLR2A	chr2:46819465-46819648	GM12878	blood:	n/a	n/a
22	RCOR1	chr2:46818740-46819038	K562	blood:	n/a	n/a
23	RCOR1	chr2:46818738-46819080	K562	blood:	n/a	n/a
24	RCOR1	chr2:46818816-46819003	HepG2	liver:	n/a	n/a
25	STAT3	chr2:46819262-46819329	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr2:46821387-46821604	MCF10A-Er-Src	breast:	n/a	chr2:46821427-46821438 chr2:46821476-46821487
27	ZNF143	chr2:46818798-46818998	K562	blood:	n/a	n/a
28	ZNF143	chr2:46818852-46818975	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46767311..46769453-chr2:46817941..46820833,2	K562	blood:
2	chr2:46768347..46770630-chr2:46822894..46825695,2	MCF-7	breast:
3	chr2:46816715..46818708-chr2:46827949..46829642,2	K562	blood:
4	chr2:46822981..46825273-chr2:46839295..46841308,2	K562	blood:
5	chr2:46818870..46822284-chr2:46824842..46827462,3	K562	blood:
6	chr2:46821971..46824630-chr2:46842972..46846352,3	MCF-7	breast:
7	chr2:46817798..46818536-chr8:145556892..145557468,2	MCF-7	breast:
8	chr2:46812899..46815887-chr2:46817795..46819442,2	MCF-7	breast:

Variant related genes	Relation type
PIGF	TF binding region
ENSG00000119878	chromatin interactions
ENSG00000119729	chromatin interactions
ENSG00000250565	chromatin interactions
ENSG00000151665	chromatin interactions

Extended variants
information (count: 247 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:247 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372837715	chr2:46817660-46817661	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550413852	chr2:46817668-46817669	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs142545923	chr2:46817669-46817670	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs199947418	chr2:46817672-46817673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs3053644	chr2:46817673-46817674	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs386645711	chr2:46817674-46817675	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs77153004	chr2:46817675-46817676	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs77451684	chr2:46817676-46817677	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs75412428	chr2:46817678-46817679	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs570110699	chr2:46817700-46817701	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs142301942	chr2:46817721-46817722	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs548482579	chr2:46817731-46817732	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs569955179	chr2:46817748-46817749	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs17767121	chr2:46817771-46817772	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs558932901	chr2:46817818-46817819	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs570808757	chr2:46817939-46817940	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs17767151	chr2:46817991-46817992	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145901932	chr2:46818060-46818061	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs574672647	chr2:46818085-46818086	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs535676818	chr2:46818121-46818122	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs181795252	chr2:46818122-46818123	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs575904047	chr2:46818191-46818192	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs543004587	chr2:46818209-46818210	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs564895151	chr2:46818231-46818232	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs187284464	chr2:46818234-46818235	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs541163336	chr2:46818290-46818291	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs13406609	chr2:46818338-46818339	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs72800550	chr2:46818339-46818340	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138460371	chr2:46818350-46818351	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs190146273	chr2:46818353-46818354	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs142981344	chr2:46818392-46818393	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs368615074	chr2:46818423-46818424	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181853222	chr2:46818501-46818502	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs186358724	chr2:46818532-46818533	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs191261533	chr2:46818553-46818554	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs528496395	chr2:46818582-46818583	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs1901263	chr2:46818586-46818587	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs568231377	chr2:46818594-46818595	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs182340124	chr2:46818685-46818686	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs557536401	chr2:46818712-46818713	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs569399469	chr2:46818716-46818717	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs185193091	chr2:46818728-46818729	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs558199915	chr2:46818750-46818751	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs541896029	chr2:46818751-46818752	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs541047160	chr2:46818770-46818771	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs146132195	chr2:46818783-46818784	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs17035346	chr2:46818803-46818804	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541612059	chr2:46818848-46818849	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs563446958	chr2:46818950-46818951	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs368306062	chr2:46818979-46818980	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	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:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46783600-46838000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:46790000-46842000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr2:46796600-46822000	Weak transcription	Fetal Brain Male	brain
4	chr2:46796800-46838000	Weak transcription	Fetal Kidney	kidney
5	chr2:46796800-46842800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:46797800-46841000	Weak transcription	K562	blood
7	chr2:46798200-46838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:46802400-46842600	Weak transcription	NHEK	skin
9	chr2:46802800-46837000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:46803400-46818800	Weak transcription	HepG2	liver
11	chr2:46803400-46842800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:46805600-46836400	Weak transcription	HSMM	muscle
13	chr2:46806600-46818800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr2:46807400-46821200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:46807600-46821200	Weak transcription	Thymus	Thymus
16	chr2:46807600-46828400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:46807600-46842400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:46807600-46842600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:46807800-46818000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:46807800-46819400	Weak transcription	Dnd41	blood
21	chr2:46807800-46821600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:46807800-46821600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:46807800-46824600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:46807800-46825000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:46807800-46828400	Weak transcription	Brain Substantia Nigra	brain
26	chr2:46807800-46835200	Weak transcription	Fetal Intestine Large	intestine
27	chr2:46807800-46835200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:46807800-46835400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:46807800-46835400	Weak transcription	Fetal Muscle Leg	muscle
30	chr2:46807800-46836400	Weak transcription	Primary T cells from cord blood	blood
31	chr2:46807800-46842400	Weak transcription	NHLF	lung
32	chr2:46807800-46842600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:46807800-46842800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:46807800-46842800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:46807800-46842800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:46807800-46842800	Weak transcription	HSMMtube	muscle
37	chr2:46807800-46843000	Weak transcription	Brain Germinal Matrix	brain
38	chr2:46807800-46843000	Weak transcription	Fetal Stomach	stomach
39	chr2:46807800-46843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:46808000-46817800	Weak transcription	A549	lung
41	chr2:46808000-46819400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:46808000-46824200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:46808000-46836000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:46808000-46836400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:46808000-46838000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr2:46808000-46842800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:46808200-46836800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr2:46808200-46838400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:46808600-46842800	Weak transcription	Placenta	Placenta
50	chr2:46809400-46818800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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