Variant report

Variant	esv3436261
Chromosome Location	chr2:85892291-85894789
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	CTCF	chr2:85893549-85893606	GM19239	blood:	n/a	n/a
2	CTCF	chr2:85892900-85893050	GM12867	blood:	n/a	n/a
3	MYC	chr2:85893370-85893443	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:85893540-85893751	HepG2	liver:	n/a	n/a
5	ZNF143	chr2:85892235-85892298	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF263	chr2:85892233-85892861	HEK293-T-REx	kidney:	n/a	chr2:85892574-85892583 chr2:85892577-85892598 chr2:85892591-85892600 chr2:85892559-85892568

No.	Distal block	Cell Line	Cell type
1	chr2:85886996..85889867-chr2:85891019..85894482,4	MCF-7	breast:
2	chr2:85879386..85881998-chr2:85891410..85893784,2	MCF-7	breast:
3	chr2:85889712..85892300-chr2:85895263..85898036,2	MCF-7	breast:

Variant related genes	Relation type
SFTPB	TF binding region
ENSG00000168878	chromatin interactions

Extended variants
information (count: 183 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs139793973	chr2:85892298-85892299	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35912756	chr2:85892300-85892301	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529911209	chr2:85892322-85892323	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs45532532	chr2:85892324-85892325	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs34051349	chr2:85892374-85892375	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs45505201	chr2:85892381-85892382	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35049407	chr2:85892451-85892452	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150799880	chr2:85892473-85892474	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs149956217	chr2:85892477-85892478	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs190610109	chr2:85892481-85892482	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs45530632	chr2:85892493-85892494	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs267599489	chr2:85892501-85892502	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs202098250	chr2:85892516-85892517	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570498034	chr2:85892536-85892537	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374190004	chr2:85892551-85892552	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531436978	chr2:85892566-85892567	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs36145588	chr2:85892569-85892570	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs36177823	chr2:85892581-85892582	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568858633	chr2:85892584-85892585	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs550064684	chr2:85892596-85892597	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs34520179	chr2:85892633-85892634	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs189222968	chr2:85892644-85892645	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs554542770	chr2:85892646-85892647	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs35404133	chr2:85892652-85892653	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs192175810	chr2:85892671-85892672	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs539889296	chr2:85892672-85892673	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs373975091	chr2:85892682-85892683	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs142376116	chr2:85892711-85892712	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200635375	chr2:85892713-85892714	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs45601634	chr2:85892735-85892736	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs377545629	chr2:85892739-85892740	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141123597	chr2:85892741-85892742	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs543913426	chr2:85892750-85892751	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs35524245	chr2:85892763-85892764	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs184494733	chr2:85892764-85892765	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs45505791	chr2:85892765-85892766	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138274558	chr2:85892767-85892768	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs34550459	chr2:85892782-85892783	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs147209702	chr2:85892783-85892784	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs3024801	chr2:85892785-85892786	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548370069	chr2:85892791-85892792	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs377624872	chr2:85892795-85892796	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs149904344	chr2:85892801-85892802	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs370750455	chr2:85892817-85892818	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370715446	chr2:85892818-85892819	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs375203471	chr2:85892832-85892833	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs367831550	chr2:85892874-85892875	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
48	rs531280852	chr2:85892875-85892876	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
49	rs549877442	chr2:85892889-85892890	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
50	rs35373464	chr2:85892908-85892909	Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Glioblastoma multiforme	19115005	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85876600-85895400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:85877200-85893200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:85879600-85894000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:85879600-85896000	Weak transcription	GM12878-XiMat	blood
5	chr2:85881800-85895800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:85883600-85892800	Weak transcription	Fetal Lung	lung
7	chr2:85883600-85900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:85884800-85895600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:85884800-85896600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr2:85886400-85893200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:85886400-85901000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:85887000-85892600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:85887000-85896200	Weak transcription	Fetal Brain Female	brain
14	chr2:85887000-85905800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:85887200-85895200	Weak transcription	Fetal Thymus	thymus
16	chr2:85887400-85893600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:85888600-85893200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:85888800-85893000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:85888800-85893000	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:85889000-85893400	Weak transcription	Spleen	Spleen
21	chr2:85889200-85894200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:85889400-85893400	Weak transcription	Colonic Mucosa	Colon
23	chr2:85890000-85894000	Transcr. at gene 5' and 3'	Lung	lung
24	chr2:85890200-85893000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:85890200-85896400	Weak transcription	Pancreas	Pancrea
26	chr2:85890400-85893800	Weak transcription	Placenta	Placenta
27	chr2:85890600-85895400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:85890800-85893000	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:85890800-85895000	Weak transcription	Osteobl	bone
30	chr2:85890800-85895200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:85890800-85895200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:85890800-85895200	Weak transcription	A549	lung
33	chr2:85890800-85895400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:85890800-85895600	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:85890800-85895800	Weak transcription	NH-A	brain
36	chr2:85891000-85905800	Weak transcription	Right Atrium	heart
37	chr2:85891200-85895000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:85891200-85895400	Weak transcription	NHDF-Ad	bronchial
39	chr2:85891400-85893200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:85891400-85895400	Weak transcription	NHLF	lung
41	chr2:85891600-85892400	Weak transcription	Left Ventricle	heart
42	chr2:85892000-85892600	Flanking Bivalent TSS/Enh	HepG2	liver
43	chr2:85892600-85892800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:85892600-85893600	Bivalent Enhancer	HepG2	liver
45	chr2:85892600-85894800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:85892800-85893600	Active TSS	Fetal Lung	lung
47	chr2:85893000-85893200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:85893000-85894800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:85893000-85899200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr2:85893000-85903000	Enhancers	Primary monocytes fromperipheralblood	blood

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