Variant report

Variant	esv2125528
Chromosome Location	chr3:156166349-156166775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:156166153-156166401	K562	blood:	n/a	n/a
2	CTCF	chr3:156165982-156166542	MCF-7	breast:	n/a	n/a
3	CTCF	chr3:156166200-156166350	GM12869	blood:	n/a	n/a
4	CTCF	chr3:156166220-156166370	HCFaa	heart:	n/a	n/a
5	CTCF	chr3:156166176-156166400	MCF-7	breast:	n/a	n/a
6	CTCF	chr3:156166139-156166420	MCF-7	breast:	n/a	n/a
7	CTCF	chr3:156166060-156166351	A549	lung:	n/a	n/a
8	CTCF	chr3:156166240-156166390	GM12871	blood:	n/a	n/a
9	CTCF	chr3:156166200-156166350	GM12865	blood:	n/a	n/a
10	CTCF	chr3:156166200-156166350	GM12870	blood:	n/a	n/a
11	CTCF	chr3:156166094-156166433	HepG2	liver:	n/a	n/a
12	CTCF	chr3:156166200-156166350	AG04449	skin:	n/a	n/a
13	CTCF	chr3:156166260-156166410	GM12865	blood:	n/a	n/a
14	CTCF	chr3:156166200-156166350	GM12873	blood:	n/a	n/a
15	CTCF	chr3:156166200-156166350	HepG2	liver:	n/a	n/a
16	CTCF	chr3:156166200-156166350	GM12867	blood:	n/a	n/a
17	CTCF	chr3:156166200-156166350	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr3:156166189-156166394	GM19239	blood:	n/a	n/a
19	CTCF	chr3:156166152-156166374	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr3:156166240-156166390	WI-38	lung:	n/a	n/a
21	CTCF	chr3:156166200-156166350	GM12864	blood:	n/a	n/a
22	CTCF	chr3:156166200-156166350	SAEC	small airway:	n/a	n/a
23	CTCF	chr3:156166170-156166383	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr3:156166220-156166370	GM12868	blood:	n/a	n/a
25	CTCF	chr3:156166200-156166350	BE2_C	brain:	n/a	n/a
26	CTCF	chr3:156166161-156166405	ProgFib	skin:	n/a	n/a
27	CTCF	chr3:156166200-156166350	AG10803	skin:	n/a	n/a
28	CTCF	chr3:156166160-156166377	HepG2	liver:	n/a	n/a
29	CTCF	chr3:156166172-156166358	Medullo	brain:	n/a	n/a
30	CTCF	chr3:156166200-156166350	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr3:156166220-156166370	BJ	skin:	n/a	n/a
32	CTCF	chr3:156166200-156166350	WERI-Rb-1	eye:	n/a	n/a
33	CTCF	chr3:156166064-156166414	K562	blood:	n/a	n/a
34	CTCF	chr3:156166182-156166399	NHEK	skin:	n/a	n/a
35	CTCF	chr3:156166220-156166370	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr3:156166200-156166350	HAc	cerebellar:	n/a	n/a
37	CTCF	chr3:156166171-156166365	GM10266	blood:	n/a	n/a
38	CTCF	chr3:156166125-156166440	K562	blood:	n/a	n/a
39	CTCF	chr3:156166148-156166351	A549	lung:	n/a	n/a
40	CTCF	chr3:156166220-156166370	AG09309	skin:	n/a	n/a
41	CTCF	chr3:156166072-156166461	K562	blood:	n/a	n/a
42	CTCF	chr3:156166220-156166370	HEK293	kidney:	n/a	n/a
43	CTCF	chr3:156166200-156166350	HVMF	connective:	n/a	n/a
44	CTCF	chr3:156166200-156166350	RPTEC	kidney:	n/a	n/a
45	CTCF	chr3:156166220-156166370	SAEC	small airway:	n/a	n/a
46	CTCF	chr3:156166150-156166396	GM12878	blood:	n/a	n/a
47	CTCF	chr3:156166200-156166350	HRPEpiC	eye:	n/a	n/a
48	CTCF	chr3:156166163-156166405	GM19238	blood:	n/a	n/a
49	CTCF	chr3:156166220-156166370	HMF	breast:	n/a	n/a
50	CTCF	chr3:156166200-156166350	HCPEpiC	choroid plexus:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156166346..156168652-chr3:156168846..156171078,2	MCF-7	breast:
2	chr3:156165868..156167744-chr3:156256177..156258339,2	K562	blood:
3	chr3:156105641..156107748-chr3:156165114..156167904,2	MCF-7	breast:
4	chr3:156165898..156166667-chr3:156192632..156193236,2	K562	blood:
5	chr3:156165003..156167494-chr3:156226890..156229666,2	K562	blood:
6	chr3:156165808..156166675-chr3:156854917..156855626,2	K562	blood:
7	chr3:156165812..156167236-chr3:156191962..156193152,4	MCF-7	breast:
8	chr3:156165881..156166850-chr3:156191700..156193084,7	MCF-7	breast:
9	chr3:156166581..156169828-chr3:156169890..156173085,3	K562	blood:
10	chr3:156166753..156169667-chr3:156173519..156175055,2	K562	blood:
11	chr3:156166166..156166744-chr3:156226460..156227204,2	K562	blood:
12	chr3:156166000..156166783-chr3:156227578..156228165,2	K562	blood:

No data

Variant related genes	Relation type
KCNAB1-AS1	TF binding region
ENSG00000169282	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147723474	chr3:156166367-156166368	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs10428230	chr3:156166374-156166375	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs533029875	chr3:156166383-156166384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs551458208	chr3:156166430-156166431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs566302256	chr3:156166431-156166432	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs527320384	chr3:156166436-156166437	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs142973007	chr3:156166532-156166533	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549404915	chr3:156166549-156166550	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs567655652	chr3:156166563-156166564	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538165806	chr3:156166581-156166582	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528511914	chr3:156166621-156166622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183180373	chr3:156166669-156166670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185695455	chr3:156166719-156166720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Cancer	17440070	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21611746	CNVD
Sudden cardiac death	19188705	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156162200-156169400	Weak transcription	Aorta	Aorta
2	chr3:156162600-156174800	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:156162800-156167600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:156162800-156168200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:156162800-156169000	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:156164000-156168800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:156164200-156167600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:156166000-156167800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:156166600-156167600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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