Variant report

Variant	esv3333135
Chromosome Location	chr3:120131862-120135010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr3:120132295-120132351	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr3:120132292-120132318	MCF-7	breast:	n/a	n/a
3	GATA2	chr3:120133460-120133644	K562	blood:	n/a	n/a
4	NR2F2	chr3:120133431-120133858	K562	blood:	n/a	n/a
5	NR2F2	chr3:120133415-120133793	K562	blood:	n/a	n/a
6	PAX5	chr3:120132636-120132853	GM12878	blood:	n/a	n/a
7	POLR2A	chr3:120134296-120134390	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr3:120134284-120134528	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr3:120134723-120134756	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120066683..120069850-chr3:120134285..120137656,5	MCF-7	breast:
2	chr3:120066496..120069971-chr3:120134010..120137845,6	MCF-7	breast:
3	chr3:120048937..120051112-chr3:120133444..120135223,2	K562	blood:
4	chr3:120133952..120135964-chr3:121186805..121189623,2	MCF-7	breast:
5	chr3:120127740..120129651-chr3:120130782..120132515,2	MCF-7	breast:
6	chr3:119961477..119964195-chr3:120134350..120136316,3	MCF-7	breast:

No data

Variant related genes	Relation type
FSTL1	TF binding region
ENSG00000240661	chromatin interactions
ENSG00000175697	chromatin interactions
ENSG00000163428	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371175152	chr3:120131884-120131885	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs567910701	chr3:120131887-120131888	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs13081675	chr3:120131913-120131914	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13081694	chr3:120131950-120131951	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377070994	chr3:120131958-120131959	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571986719	chr3:120131969-120131970	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371178129	chr3:120131970-120131971	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs534455023	chr3:120131990-120131991	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs557800689	chr3:120132038-120132039	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577783306	chr3:120132067-120132068	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145865461	chr3:120132148-120132149	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563253931	chr3:120132160-120132161	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56100867	chr3:120132180-120132181	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542512291	chr3:120132237-120132238	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559348069	chr3:120132273-120132274	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528468500	chr3:120132366-120132367	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551597954	chr3:120132435-120132436	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565350333	chr3:120132476-120132477	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143756742	chr3:120132513-120132514	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142100623	chr3:120132635-120132636	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs56029770	chr3:120132641-120132642	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs55885359	chr3:120132647-120132648	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs36133782	chr3:120132649-120132650	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs36132782	chr3:120132653-120132654	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs190007851	chr3:120132669-120132670	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs551154097	chr3:120132691-120132692	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567849852	chr3:120132692-120132693	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs367955651	chr3:120132764-120132765	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs35414776	chr3:120132770-120132771	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs371489339	chr3:120132774-120132775	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs536991507	chr3:120132776-120132777	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs182902986	chr3:120132787-120132788	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs188221173	chr3:120132788-120132789	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs534584642	chr3:120132790-120132791	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs533514428	chr3:120132811-120132812	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs557571944	chr3:120132872-120132873	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs375766337	chr3:120132873-120132874	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368676776	chr3:120132890-120132891	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs577629149	chr3:120132910-120132911	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536742350	chr3:120132952-120132953	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs372100909	chr3:120133040-120133041	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs375169760	chr3:120133044-120133045	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs556786743	chr3:120133047-120133048	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573481854	chr3:120133069-120133070	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs542544976	chr3:120133084-120133085	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs112006688	chr3:120133085-120133086	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369680901	chr3:120133088-120133089	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552811774	chr3:120133099-120133100	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs13088020	chr3:120133152-120133153	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs545336855	chr3:120133153-120133154	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Glioblastoma multiforme	22286061	CNVD
Neurodevelopmental disorder	22521361	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120112000-120132600	Strong transcription	Placenta Amnion	Placenta Amnion
2	chr3:120112200-120132600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:120112400-120132600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:120112400-120132600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr3:120112400-120132600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr3:120112400-120132600	Strong transcription	HSMMtube	muscle
7	chr3:120112400-120132600	Strong transcription	NH-A	brain
8	chr3:120112400-120132600	Strong transcription	NHDF-Ad	bronchial
9	chr3:120112400-120132600	Strong transcription	NHLF	lung
10	chr3:120112600-120132400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:120112600-120132400	Strong transcription	Aorta	Aorta
12	chr3:120112600-120132600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:120112600-120132600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:120112600-120132800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr3:120112800-120132000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:120112800-120132600	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:120112800-120132600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:120113200-120132400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:120113200-120132600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:120113200-120132600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:120113200-120132600	Strong transcription	Fetal Kidney	kidney
22	chr3:120113200-120132600	Strong transcription	HUVEC	blood vessel
23	chr3:120113200-120133000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:120113400-120132400	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr3:120113400-120132600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr3:120113400-120132600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:120113800-120132600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:120114000-120132400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:120114400-120132600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:120114400-120132800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:120114400-120143200	Weak transcription	Small Intestine	intestine
32	chr3:120115800-120151000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:120118800-120135600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:120122200-120136000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr3:120122400-120135000	Weak transcription	Psoas Muscle	Psoas
36	chr3:120122400-120135800	Weak transcription	A549	lung
37	chr3:120124200-120132400	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr3:120124200-120132600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:120124200-120132600	Strong transcription	Osteobl	bone
40	chr3:120125000-120132800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr3:120125400-120132600	Strong transcription	HSMM	muscle
42	chr3:120126400-120132400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:120126800-120132200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr3:120127400-120135600	Weak transcription	Fetal Thymus	thymus
45	chr3:120127600-120132600	Strong transcription	Placenta	Placenta
46	chr3:120128200-120135000	Weak transcription	Thymus	Thymus
47	chr3:120128200-120137600	Weak transcription	Gastric	stomach
48	chr3:120128400-120132600	Enhancers	Fetal Brain Male	brain
49	chr3:120128400-120135600	Weak transcription	Brain Germinal Matrix	brain
50	chr3:120128400-120135600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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