Variant report

Variant	esv2359103
Chromosome Location	chr3:121202132-121202134
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	GATA3	chr3:121201383-121202495	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr3:121201387-121202677	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr3:121202130-121202611	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121199222..121201861-chr3:121202113..121203793,2	K562	blood:

Variant related genes	Relation type
POLQ	TF binding region
ENSG00000051341	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 63 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200015135	chr3:121202132-121202133	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201147155	chr3:121202133-121202134	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs397755922	chr3:121202134-121202135	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121176400-121214800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:121176400-121224200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:121177400-121204000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr3:121177400-121205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:121177800-121214800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr3:121178000-121208600	Weak transcription	Fetal Heart	heart
9	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr3:121178400-121204800	Strong transcription	Dnd41	blood
11	chr3:121181000-121219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:121181600-121204000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:121183800-121234400	Weak transcription	Primary B cells from cord blood	blood
14	chr3:121186400-121255600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:121186600-121211600	Weak transcription	Primary T cells from cord blood	blood
16	chr3:121186800-121213000	Weak transcription	Fetal Intestine Small	intestine
17	chr3:121187000-121209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:121187200-121223400	Weak transcription	Fetal Intestine Large	intestine
19	chr3:121192200-121233600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr3:121193000-121212400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:121193200-121237000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:121195200-121208200	Weak transcription	Thymus	Thymus
23	chr3:121195600-121233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:121195800-121207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:121196000-121207000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:121196000-121208800	Weak transcription	Fetal Muscle Leg	muscle
27	chr3:121196800-121208600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr3:121197000-121207600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:121197200-121206800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr3:121197200-121207600	Weak transcription	HepG2	liver
31	chr3:121197200-121217400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr3:121197200-121233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:121198200-121204000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr3:121198800-121210000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr3:121199000-121205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:121199200-121202600	Strong transcription	Fetal Thymus	thymus
37	chr3:121199200-121203600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr3:121199200-121203600	Strong transcription	GM12878-XiMat	blood
39	chr3:121199200-121204000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:121199200-121205000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:121199200-121216200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:121199800-121213200	Weak transcription	Fetal Stomach	stomach
43	chr3:121200000-121202600	Enhancers	NHDF-Ad	bronchial
44	chr3:121200000-121202800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr3:121200000-121203200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:121200400-121222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:121200600-121202600	Enhancers	NHEK	skin
48	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:121200800-121203200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr3:121200800-121206200	Weak transcription	K562	blood

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