Variant report

Variant	esv3405736
Chromosome Location	chr2:153010911-153011182
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	POLR2A	chr2:153011077-153011084	A549	lung:	n/a	n/a
2	POLR2A	chr2:153011087-153011117	A549	lung:	n/a	n/a
3	POLR2A	chr2:153011047-153011072	MCF-7	breast:	n/a	n/a
4	RUNX3	chr2:153010968-153011461	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153010671..153012696-chr2:153030750..153032348,2	MCF-7	breast:
2	chr2:153008214..153011246-chr2:153012538..153015766,3	K562	blood:

Variant related genes	Relation type
STAM2	TF binding region
ENSG00000115145	chromatin interactions

Extended variants
information (count: 12 )
Associated
traits (count: 50 )

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	rs12693269	chr2:153010918-153010919	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558504516	chr2:153010932-153010933	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112363601	chr2:153010933-153010934	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs578197781	chr2:153010936-153010937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs117021904	chr2:153010993-153010994	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs138104612	chr2:153011086-153011087	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529382521	chr2:153011087-153011088	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs117378274	chr2:153011115-153011116	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141475550	chr2:153011132-153011133	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs371857995	chr2:153011133-153011134	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs559679772	chr2:153011150-153011151	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528513367	chr2:153011163-153011164	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152974200-153017000	Weak transcription	Colonic Mucosa	Colon
2	chr2:152976000-153014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:152976200-153013400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:152976400-153013400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:152978200-153021400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:152981800-153024800	Weak transcription	Brain Substantia Nigra	brain
7	chr2:152982400-153013400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:152983800-153013400	Weak transcription	Psoas Muscle	Psoas
9	chr2:152991800-153018400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:152992000-153011600	Weak transcription	Stomach Mucosa	stomach
11	chr2:152996200-153013400	Weak transcription	Right Ventricle	heart
12	chr2:152998400-153013200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:152998400-153013400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:153000200-153031000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:153001800-153013600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:153001800-153013600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:153002200-153013400	Weak transcription	Aorta	Aorta
18	chr2:153002200-153023600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:153002400-153022000	Weak transcription	Lung	lung
20	chr2:153002800-153030400	Weak transcription	Thymus	Thymus
21	chr2:153003200-153011800	Weak transcription	Spleen	Spleen
22	chr2:153003200-153013400	Weak transcription	Left Ventricle	heart
23	chr2:153003200-153013600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:153003200-153028400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:153003600-153013400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:153003600-153013400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:153003600-153013800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:153003600-153014000	Weak transcription	Ovary	ovary
29	chr2:153003600-153028000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:153003800-153011600	Weak transcription	A549	lung
31	chr2:153003800-153013400	Weak transcription	Brain Anterior Caudate	brain
32	chr2:153003800-153013600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:153004000-153018400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:153004000-153022400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:153004200-153013200	Weak transcription	Fetal Intestine Large	intestine
36	chr2:153004200-153013600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:153004200-153013600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:153004200-153013600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:153004200-153013800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:153004200-153023800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:153004400-153011200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:153004400-153011800	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:153004400-153013600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:153004400-153013600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:153004400-153016400	Weak transcription	NH-A	brain
46	chr2:153004400-153023600	Weak transcription	HSMM	muscle
47	chr2:153004400-153023600	Weak transcription	NHDF-Ad	bronchial
48	chr2:153004600-153011600	Weak transcription	Adipose Nuclei	Adipose
49	chr2:153004600-153011600	Weak transcription	HepG2	liver
50	chr2:153004600-153013800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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