Variant report

Variant	esv3433993
Chromosome Location	chr2:113303174-113303412
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113302234..113303949-chr2:113316673..113319287,3	MCF-7	breast:
2	chr2:113235572..113240260-chr2:113300212..113305167,6	MCF-7	breast:
3	chr2:113303031..113306151-chr2:113306991..113309484,3	K562	blood:
4	chr2:113238711..113240808-chr2:113302354..113303950,2	K562	blood:

Variant related genes	Relation type
ENSG00000125630	chromatin interactions
ENSG00000114999	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 65 )

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	rs576509168	chr2:113303175-113303176	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34661360	chr2:113303223-113303224	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs75436393	chr2:113303228-113303229	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
4	rs112540704	chr2:113303242-113303243	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs138938834	chr2:113303253-113303254	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs540505283	chr2:113303283-113303284	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs560469660	chr2:113303288-113303289	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143738441	chr2:113303341-113303342	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs60518507	chr2:113303355-113303356	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs562598755	chr2:113303361-113303362	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531345509	chr2:113303372-113303373	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62158582	chr2:113303381-113303382	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs61669219	chr2:113303411-113303412	Weak transcription Strong transcription Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:65)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113298600-113303600	Active TSS	GM12878-XiMat	blood
2	chr2:113301000-113304600	Weak transcription	Aorta	Aorta
3	chr2:113301200-113303800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:113301200-113304400	Weak transcription	Colonic Mucosa	Colon
5	chr2:113301200-113304600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:113301200-113304600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:113301200-113304600	Weak transcription	Fetal Stomach	stomach
8	chr2:113301200-113304600	Weak transcription	Right Ventricle	heart
9	chr2:113301200-113305000	Weak transcription	NH-A	brain
10	chr2:113301200-113307200	Weak transcription	HSMMtube	muscle
11	chr2:113301200-113340200	Weak transcription	Right Atrium	heart
12	chr2:113301200-113341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:113301400-113303200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:113301400-113303600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:113301400-113303600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:113301400-113304400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:113301400-113304600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:113301400-113304600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:113301400-113304600	Weak transcription	Thymus	Thymus
20	chr2:113301400-113304800	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:113301400-113304800	Weak transcription	Fetal Kidney	kidney
22	chr2:113301400-113308800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:113301400-113308800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:113301400-113310000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr2:113301400-113326200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:113301600-113303200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:113301600-113303400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:113301600-113303400	Weak transcription	Fetal Intestine Large	intestine
29	chr2:113301600-113303600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:113301600-113303600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:113301600-113303600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:113301600-113303600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr2:113301600-113303600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr2:113301600-113303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:113301600-113303600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:113301600-113303600	Weak transcription	Liver	Liver
37	chr2:113301600-113303600	Weak transcription	Brain Germinal Matrix	brain
38	chr2:113301600-113303600	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:113301600-113303600	Weak transcription	Esophagus	oesophagus
40	chr2:113301600-113303600	Weak transcription	Fetal Brain Female	brain
41	chr2:113301600-113303600	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:113301600-113303600	Weak transcription	HUVEC	blood vessel
43	chr2:113301600-113303600	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:113301600-113303800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:113301600-113303800	Weak transcription	Fetal Intestine Small	intestine
46	chr2:113301600-113303800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr2:113301600-113304000	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:113301600-113304400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:113301600-113304400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:113301600-113304400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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