Variant report

Variant	esv32617
Chromosome Location	chr2:86256641-86260285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:86257170-86257303	K562	blood:	n/a	n/a
2	CTCF	chr2:86257224-86257298	K562	blood:	n/a	n/a
3	ESR1	chr2:86257028-86257268	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr2:86257198-86257367	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:86258327-86258609	K562	blood:	n/a	n/a
6	POLR2A	chr2:86257505-86257653	K562	blood:	n/a	n/a
7	POLR2A	chr2:86257833-86258059	K562	blood:	n/a	n/a
8	POLR2A	chr2:86257084-86257438	K562	blood:	n/a	n/a
9	POLR2A	chr2:86258581-86258582	K562	blood:	n/a	n/a
10	POLR2A	chr2:86258463-86258850	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:86260202-86260309	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr2:86260064-86260326	K562	blood:	n/a	n/a
13	POLR2A	chr2:86259246-86259661	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:86257855-86258094	HepG2	liver:	n/a	n/a
15	POLR2A	chr2:86259692-86259745	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:86258910-86259008	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr2:86256855-86256907	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:86259506-86259724	K562	blood:	n/a	n/a
19	POLR2A	chr2:86257764-86257949	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr2:86257973-86258063	K562	blood:	n/a	n/a
21	POLR2A	chr2:86257814-86257840	HepG2	liver:	n/a	n/a
22	RAD21	chr2:86257106-86257322	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr2:86257189-86257294	Hela-S3	cervix:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86258920..86261091-chr2:86267276..86270072,2	K562	blood:
2	chr2:86253744..86255474-chr2:86257565..86259502,2	MCF-7	breast:
3	chr2:86259299..86259923-chr2:86274550..86275457,2	K562	blood:

No data

Variant related genes	Relation type
POLR1A	TF binding region
ENSG00000068654	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:176 , 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	rs368333105	chr2:86256670-86256671	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs112782342	chr2:86256722-86256723	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369828314	chr2:86256723-86256724	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs386390654	chr2:86256736-86256737	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35348861	chr2:86256737-86256738	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372406003	chr2:86256760-86256761	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550112040	chr2:86256805-86256806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143135658	chr2:86256820-86256821	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535470762	chr2:86256821-86256822	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369993197	chr2:86256867-86256868	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs13420958	chr2:86256868-86256869	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs565820046	chr2:86256869-86256870	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs528311413	chr2:86256876-86256877	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs374866522	chr2:86256881-86256882	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201376388	chr2:86256898-86256899	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557541323	chr2:86256936-86256937	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368548332	chr2:86256966-86256967	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576593258	chr2:86256970-86256971	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543639175	chr2:86257015-86257016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181813691	chr2:86257018-86257019	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573993727	chr2:86257023-86257024	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565081921	chr2:86257024-86257025	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541069359	chr2:86257060-86257061	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs559330115	chr2:86257066-86257067	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187247655	chr2:86257071-86257072	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs552846840	chr2:86257114-86257115	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs369261751	chr2:86257128-86257129	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs545503535	chr2:86257144-86257145	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563594723	chr2:86257145-86257146	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs531567728	chr2:86257149-86257150	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs549980001	chr2:86257172-86257173	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370056190	chr2:86257180-86257181	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs191997674	chr2:86257218-86257219	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs551368981	chr2:86257227-86257228	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs529192481	chr2:86257228-86257229	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs547666685	chr2:86257229-86257230	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565693337	chr2:86257230-86257231	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539029003	chr2:86257256-86257257	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs561491526	chr2:86257267-86257268	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs373581087	chr2:86257268-86257269	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs141410685	chr2:86257324-86257325	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200374085	chr2:86257382-86257383	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs180684648	chr2:86257409-86257410	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373061040	chr2:86257416-86257417	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs185258869	chr2:86257417-86257418	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs370764475	chr2:86257424-86257425	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs373607912	chr2:86257433-86257434	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377467532	chr2:86257437-86257438	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs370258399	chr2:86257444-86257445	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79519753	chr2:86257445-86257446	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	21346763	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86244200-86257000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:86244600-86257200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:86245400-86257200	Weak transcription	Stomach Mucosa	stomach
4	chr2:86245400-86257400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:86245400-86263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:86248800-86257000	Weak transcription	Psoas Muscle	Psoas
7	chr2:86248800-86257200	Weak transcription	Fetal Kidney	kidney
8	chr2:86250800-86262200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:86251000-86261000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:86251000-86262000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:86251000-86262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:86251000-86262800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:86251200-86261600	Strong transcription	NH-A	brain
14	chr2:86251200-86261800	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:86251200-86262400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:86251200-86262800	Strong transcription	Fetal Brain Female	brain
17	chr2:86251200-86263200	Strong transcription	A549	lung
18	chr2:86251200-86273200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:86251200-86281400	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr2:86251200-86283000	Strong transcription	HepG2	liver
21	chr2:86251200-86283200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:86251200-86285000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:86251200-86285200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:86251400-86261000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:86251400-86261000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:86251400-86261200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:86251400-86262000	Strong transcription	Osteobl	bone
28	chr2:86251400-86262800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:86251400-86263400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:86251600-86261600	Strong transcription	HMEC	breast
31	chr2:86251800-86259400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:86251800-86262000	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:86251800-86262400	Strong transcription	Fetal Intestine Small	intestine
34	chr2:86252000-86262000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:86252000-86331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:86252200-86262000	Strong transcription	GM12878-XiMat	blood
37	chr2:86252200-86262400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:86252200-86262600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:86252200-86282600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:86252200-86285200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:86252400-86258800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:86252400-86261000	Strong transcription	Dnd41	blood
43	chr2:86252400-86261600	Strong transcription	Esophagus	oesophagus
44	chr2:86252400-86262200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:86252400-86262400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:86252400-86262400	Strong transcription	NHEK	skin
47	chr2:86252400-86262600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:86252400-86263000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:86252400-86283200	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr2:86252600-86259000	Strong transcription	Primary T cells fromperipheralblood	blood

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