Variant report

Variant	esv3462708
Chromosome Location	chr3:150121798-150122268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:150121875-150122212	Hela-S3	cervix:	n/a	n/a
2	FOS	chr3:150122005-150122172	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:150121769-150121837	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:150108770..150111443-chr3:150121754..150123865,2	K562	blood:
2	chr3:150101805..150104730-chr3:150121434..150125041,3	K562	blood:
3	chr3:150116751..150119532-chr3:150121582..150125856,6	K562	blood:
4	chr3:150093271..150095858-chr3:150119716..150121921,2	MCF-7	breast:
5	chr3:150120348..150122369-chr3:150175788..150177306,2	K562	blood:
6	chr3:150121790..150130149-chr3:150138506..150143439,10	MCF-7	breast:

No data

Variant related genes	Relation type
TSC22D2	TF binding region
ENSG00000196428	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572397327	chr3:150121828-150121829	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs369229584	chr3:150121944-150121945	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186913261	chr3:150122030-150122031	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs536889506	chr3:150122094-150122095	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs190806347	chr3:150122109-150122110	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs546161340	chr3:150122114-150122115	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs10513373	chr3:150122121-150122122	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs562049074	chr3:150122138-150122139	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572438208	chr3:150122145-150122146	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs541089239	chr3:150122165-150122166	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531800715	chr3:150122219-150122220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376561972	chr3:150122249-150122250	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Bipolar disorder	18458673	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
Breast cancer	21364760	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	16773561	CNVD
Non-small cell lung cancer	19010865	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150090200-150124600	Weak transcription	Aorta	Aorta
2	chr3:150109200-150124400	Weak transcription	HSMM	muscle
3	chr3:150109200-150124600	Weak transcription	NHLF	lung
4	chr3:150115400-150123600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:150117000-150125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:150117200-150125000	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:150117400-150125000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:150119600-150124600	Weak transcription	Fetal Intestine Large	intestine
9	chr3:150119600-150124600	Weak transcription	Fetal Intestine Small	intestine
10	chr3:150120200-150124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:150121000-150121800	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr3:150121200-150121800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr3:150121200-150121800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:150121200-150122000	Weak transcription	HSMMtube	muscle
15	chr3:150121200-150122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:150121400-150121800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:150121400-150122200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:150121400-150122200	Enhancers	Hela-S3	cervix
19	chr3:150121400-150122400	Enhancers	NHDF-Ad	bronchial
20	chr3:150121400-150124800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:150121600-150122200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:150121600-150122200	Weak transcription	NHEK	skin
23	chr3:150121600-150122400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr3:150121600-150123600	Weak transcription	A549	lung
25	chr3:150121600-150125200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr3:150121800-150122200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:150121800-150124800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:150121800-150124800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:150121800-150124800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr3:150121800-150125000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:150122000-150122200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:150122000-150122200	Enhancers	HSMMtube	muscle
33	chr3:150122000-150122400	Enhancers	HMEC	breast
34	chr3:150122200-150122400	Enhancers	NHEK	skin
35	chr3:150122200-150123600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:150122200-150124200	Weak transcription	HSMMtube	muscle
37	chr3:150122200-150124400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:150122200-150124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:150122200-150124800	Weak transcription	Hela-S3	cervix
40	chr3:150122200-150125000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:150122200-150125200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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