Variant report

Variant	esv3459362
Chromosome Location	chr2:234329708-234330170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
2	chr2:234327625..234329207-chr2:234329605..234332542,2	MCF-7	breast:
3	chr2:234164721..234166387-chr2:234329039..234331585,2	K562	blood:
4	chr2:234329179..234330776-chr2:234332983..234335044,2	K562	blood:
5	chr2:234329436..234331641-chr2:234351887..234353732,2	MCF-7	breast:
6	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:
7	chr2:234330110..234332906-chr2:234472869..234475585,2	MCF-7	breast:
8	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:
9	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000085982	chromatin interactions
ENSG00000077044	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149414574	chr2:234329709-234329710	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs535988940	chr2:234329769-234329770	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77316086	chr2:234329777-234329778	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2924808	chr2:234329816-234329817	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs546078676	chr2:234329818-234329819	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138697088	chr2:234329827-234329828	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192669371	chr2:234329832-234329833	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs76742531	chr2:234329858-234329859	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568604411	chr2:234329923-234329924	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142763355	chr2:234330017-234330018	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571959455	chr2:234330034-234330035	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs35435541	chr2:234330043-234330044	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs750887	chr2:234330126-234330127	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539756571	chr2:234330162-234330163	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16272173	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
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234325600-234330600	Weak transcription	HepG2	liver
7	chr2:234326400-234331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:234326400-234331600	Enhancers	Fetal Thymus	thymus
9	chr2:234326600-234330600	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr2:234326800-234330800	Enhancers	Ovary	ovary
11	chr2:234326800-234330800	Enhancers	Small Intestine	intestine
12	chr2:234326800-234331800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr2:234327000-234331000	Enhancers	Placenta	Placenta
14	chr2:234327200-234329800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:234327200-234330800	Enhancers	Fetal Lung	lung
16	chr2:234327200-234331200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr2:234327400-234330000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr2:234327400-234330600	Weak transcription	Pancreas	Pancrea
19	chr2:234327400-234331200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:234327400-234331400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:234327600-234330200	Active TSS	Gastric	stomach
22	chr2:234327600-234331200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:234327600-234331800	Active TSS	Psoas Muscle	Psoas
24	chr2:234327800-234329800	Weak transcription	Brain Anterior Caudate	brain
25	chr2:234328000-234330200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:234328200-234330200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:234328200-234331000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:234328200-234331200	Enhancers	Lung	lung
29	chr2:234328200-234332200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:234328400-234330200	Flanking Active TSS	Fetal Heart	heart
34	chr2:234328400-234331200	Enhancers	HSMMtube	muscle
35	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:234328600-234330000	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
37	chr2:234328600-234330000	Enhancers	NH-A	brain
38	chr2:234328600-234330400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:234328600-234330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:234328600-234330600	Enhancers	Duodenum Mucosa	Duodenum
41	chr2:234328600-234330600	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:234328600-234331800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr2:234328600-234332800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr2:234328800-234329800	Weak transcription	Colonic Mucosa	Colon
45	chr2:234328800-234329800	Weak transcription	Esophagus	oesophagus
46	chr2:234328800-234329800	Weak transcription	Fetal Intestine Small	intestine
47	chr2:234328800-234329800	Active TSS	Right Ventricle	heart
48	chr2:234328800-234329800	Weak transcription	Spleen	Spleen
49	chr2:234328800-234330000	Weak transcription	Fetal Intestine Large	intestine
50	chr2:234328800-234330200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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