Variant report

Variant	esv2754380
Chromosome Location	chr2:57148349-57306249
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	BHLHE40	chr2:57296472-57296568	A549	lung:	n/a	n/a
2	CEBPB	chr2:57210010-57210254	K562	blood:	n/a	chr2:57210171-57210182
3	CEBPB	chr2:57304138-57304383	A549	lung:	n/a	chr2:57304254-57304265
4	CEBPB	chr2:57210085-57210188	H1-hESC	embryonic stem cell:	n/a	chr2:57210171-57210182
5	CEBPB	chr2:57281660-57281670	K562	blood:	n/a	n/a
6	CEBPB	chr2:57209998-57210535	IMR90	lung:	n/a	chr2:57210171-57210182
7	CEBPB	chr2:57183998-57184543	A549	lung:	n/a	chr2:57184507-57184518
8	CEBPB	chr2:57184386-57184595	IMR90	lung:	n/a	chr2:57184507-57184518
9	CEBPB	chr2:57304143-57304343	HepG2	liver:	n/a	chr2:57304254-57304265
10	CEBPB	chr2:57281573-57281844	HepG2	liver:	n/a	chr2:57281722-57281733
11	CEBPB	chr2:57297417-57297708	HepG2	liver:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
12	CEBPB	chr2:57189874-57190192	A549	lung:	n/a	n/a
13	CEBPB	chr2:57210056-57210648	HepG2	liver:	n/a	chr2:57210171-57210182
14	CEBPB	chr2:57183987-57184634	HepG2	liver:	n/a	chr2:57184507-57184518
15	CEBPB	chr2:57209986-57210649	A549	lung:	n/a	chr2:57210171-57210182
16	CEBPB	chr2:57210008-57210667	Hela-S3	cervix:	n/a	chr2:57210171-57210182
17	CEBPB	chr2:57210399-57210603	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr2:57297485-57297666	A549	lung:	n/a	chr2:57297542-57297553 chr2:57297542-57297555
19	CTCF	chr2:57221744-57221776	Kidney_OC	kidney:	n/a	n/a
20	CTCF	chr2:57263366-57263550	NHEK	skin:	n/a	n/a
21	CTCF	chr2:57263430-57263458	HepG2	liver:	n/a	n/a
22	CTCF	chr2:57212895-57212986	GM13976	blood:	n/a	n/a
23	CTCF	chr2:57263388-57263493	Gliobla	brain:	n/a	n/a
24	CTCF	chr2:57213000-57213150	HMEC	breast:	n/a	n/a
25	CTCF	chr2:57212860-57213010	WERI-Rb-1	eye:	n/a	chr2:57212991-57213007
26	CTCF	chr2:57263360-57263510	HMEC	breast:	n/a	n/a
27	CTCF	chr2:57263280-57263430	HPF	lung:	n/a	n/a
28	CTCF	chr2:57300360-57300510	HPAF	blood vessel:	n/a	n/a
29	CTCF	chr2:57212903-57212998	GM10248	blood:	n/a	n/a
30	CTCF	chr2:57263315-57263524	GM12878	blood:	n/a	n/a
31	CTCF	chr2:57263380-57263530	AG04449	skin:	n/a	n/a
32	CTCF	chr2:57263380-57263530	SAEC	small airway:	n/a	n/a
33	CTCF	chr2:57263382-57263502	MCF-7	breast:	n/a	n/a
34	CTCF	chr2:57263420-57263570	HMF	breast:	n/a	n/a
35	CTCF	chr2:57212913-57212998	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr2:57263340-57263490	AG04449	skin:	n/a	n/a
37	CTCF	chr2:57212924-57212989	GM13977	blood:	n/a	n/a
38	CTCF	chr2:57212938-57212990	GM10266	blood:	n/a	n/a
39	CTCF	chr2:57263380-57263530	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr2:57263400-57263550	HCT-116	colon:	n/a	n/a
41	CTCF	chr2:57212940-57213090	HCT-116	colon:	n/a	chr2:57212991-57213007
42	CTCF	chr2:57212940-57213090	HMF	breast:	n/a	chr2:57212991-57213007
43	CTCF	chr2:57263340-57263490	HMEC	breast:	n/a	n/a
44	CTCF	chr2:57249300-57249450	BJ	skin:	n/a	n/a
45	CTCF	chr2:57263320-57263470	HCFaa	heart:	n/a	n/a
46	CTCF	chr2:57263360-57263510	HPF	lung:	n/a	n/a
47	CTCF	chr2:57263380-57263530	HBMEC	blood vessel:	n/a	n/a
48	CTCF	chr2:57263320-57263470	HVMF	connective:	n/a	n/a
49	CTCF	chr2:57212960-57213110	MCF-7	breast:	n/a	chr2:57212991-57213007
50	CTCF	chr2:57263440-57263499	Pancreas_OC	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
2	chr2:57298072..57298949-chr7:67013799..67014465,2	MCF-7	breast:
3	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:
4	chr2:57275015..57275515-chr9:135897506..135898082,2	MCF-7	breast:
5	chr2:50393423..50394149-chr2:57299588..57300484,2	MCF-7	breast:
6	chr2:57232953..57235028-chr2:57238339..57240137,2	K562	blood:
7	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
8	chr2:57195854..57197711-chr2:57199623..57201221,2	MCF-7	breast:
9	chr2:57271966..57274864-chr2:57279290..57282251,2	K562	blood:
10	chr2:56411333..56413032-chr2:57196055..57197741,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271115	TF binding region
ENSG00000238690	TF binding region
ENSG00000233251	chromatin interactions

Extended variants
information (count: 666 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183694686	chr2:57161642-57161643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs578023333	chr2:57161643-57161644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188273533	chr2:57161660-57161661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560347700	chr2:57161675-57161676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145465256	chr2:57161684-57161685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542939546	chr2:57161705-57161706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562531343	chr2:57161740-57161741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370629851	chr2:57161753-57161754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551329632	chr2:57161894-57161895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571259432	chr2:57161895-57161896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556780337	chr2:57161922-57161923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538748446	chr2:57161987-57161988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2865263	chr2:57162041-57162042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372826947	chr2:57162100-57162101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535776720	chr2:57162117-57162118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549398683	chr2:57162156-57162157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs569497103	chr2:57162184-57162185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115749821	chr2:57162224-57162225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2865264	chr2:57162234-57162235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558083914	chr2:57162242-57162243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545549684	chr2:57162243-57162244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578150648	chr2:57162296-57162297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370999360	chr2:57162383-57162384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534277379	chr2:57162387-57162388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554054839	chr2:57162394-57162395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553005098	chr2:57162431-57162432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573061099	chr2:57162458-57162459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541487100	chr2:57162487-57162488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561707790	chr2:57162504-57162505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114643197	chr2:57162528-57162529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542978182	chr2:57162584-57162585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376109999	chr2:57164420-57164421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370823068	chr2:57164421-57164422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61075073	chr2:57164422-57164423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs78363346	chr2:57164429-57164430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397732944	chr2:57164442-57164443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574758310	chr2:57164460-57164461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4672173	chr2:57164498-57164499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528040572	chr2:57164501-57164502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114431544	chr2:57164551-57164552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561161409	chr2:57164558-57164559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4672174	chr2:57164586-57164587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77914642	chr2:57164613-57164614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540186534	chr2:57164628-57164629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs13396888	chr2:57164653-57164654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs188665723	chr2:57164686-57164687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551996370	chr2:57164702-57164703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs57654746	chr2:57164707-57164708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs193232466	chr2:57164716-57164717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542724884	chr2:57164728-57164729	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
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
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	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
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57161600-57162600	Enhancers	Fetal Brain Female	brain
2	chr2:57162400-57162600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr2:57164400-57165000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:57164400-57165000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:57164400-57165000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:57165600-57166000	Enhancers	Fetal Brain Male	brain
7	chr2:57166800-57167000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:57191000-57191800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:57193600-57194400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:57193600-57194400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:57193600-57194400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:57194200-57194400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:57194400-57196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:57194400-57196200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:57194400-57196200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:57196200-57196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:57196200-57196600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:57196200-57196800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:57196200-57196800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:57196200-57197600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:57198400-57199800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:57208400-57208800	Enhancers	HSMM	muscle
23	chr2:57263000-57263400	Enhancers	Pancreas	Pancrea
24	chr2:57266600-57267000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:57272200-57272800	Enhancers	Brain Angular Gyrus	brain
26	chr2:57272200-57273000	Enhancers	Brain Cingulate Gyrus	brain
27	chr2:57272400-57272800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:57272400-57272800	Enhancers	Brain Substantia Nigra	brain
29	chr2:57273600-57274000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:57302000-57302400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:57302000-57303000	Enhancers	NHEK	skin
32	chr2:57302200-57302600	Enhancers	HMEC	breast
33	chr2:57302400-57304600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:57304600-57307000	Weak transcription	Muscle Satellite Cultured Cells	--

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