Variant report

Variant	esv3458824
Chromosome Location	chr2:183989499-183990322
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:183989189..183990903-chr2:184002119..184004777,2	MCF-7	breast:
2	chr2:182755789..182757861-chr2:183988319..183990505,2	K562	blood:
3	chr2:183941058..183944169-chr2:183988077..183990587,3	MCF-7	breast:
4	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
5	chr17:7475914..7477152-chr2:183988526..183989842,3	Hela-S3	cervix:
6	chr2:183836718..183838459-chr2:183989290..183991920,2	K562	blood:
7	chr2:183886816..183889401-chr2:183988651..183990376,2	K562	blood:
8	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
9	chr2:183942606..183944610-chr2:183988840..183990429,2	K562	blood:
10	chr2:183942219..183944106-chr2:183988840..183990406,2	K562	blood:
11	chr2:183902160..183905711-chr2:183988105..183989833,3	MCF-7	breast:
12	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
13	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
14	chr2:183954410..183956747-chr2:183990297..183991914,2	K562	blood:
15	chr2:183989265..183990800-chr2:184010673..184012208,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162999	chromatin interactions
ENSG00000161960	chromatin interactions
ENSG00000260742	chromatin interactions
ENSG00000138434	chromatin interactions
ENSG00000202141	chromatin interactions
ENSG00000061676	chromatin interactions
ENSG00000163002	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557122561	chr2:183989527-183989528	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs567616738	chr2:183989530-183989531	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs369870213	chr2:183989626-183989627	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs12612008	chr2:183989637-183989638	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs1473616	chr2:183989678-183989679	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13384868	chr2:183989679-183989680	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs202161471	chr2:183989687-183989688	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs545249265	chr2:183989690-183989691	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs189263323	chr2:183989691-183989692	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs115583941	chr2:183989702-183989703	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs146771678	chr2:183989716-183989717	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs192821726	chr2:183989821-183989822	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs562896023	chr2:183989825-183989826	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs531602590	chr2:183989850-183989851	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs1473617	chr2:183989863-183989864	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs539963041	chr2:183989925-183989926	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs374104183	chr2:183989956-183989957	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs143685347	chr2:183989970-183989971	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs57773201	chr2:183989977-183989978	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs372936129	chr2:183989981-183989982	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs568816818	chr2:183990005-183990006	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs77461554	chr2:183990007-183990008	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs532061071	chr2:183990021-183990022	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs577984081	chr2:183990079-183990080	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs2705720	chr2:183990157-183990158	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544884902	chr2:183990225-183990226	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs140613784	chr2:183990237-183990238	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs2705721	chr2:183990288-183990289	Active TSS Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:221 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183987800-183989600	Active TSS	Liver	Liver
2	chr2:183987800-183990200	Active TSS	Psoas Muscle	Psoas
3	chr2:183988000-183989800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:183988000-183990400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:183988200-183989600	Active TSS	Brain Cingulate Gyrus	brain
6	chr2:183988200-183989600	Active TSS	Duodenum Mucosa	Duodenum
7	chr2:183988200-183989800	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:183988200-183989800	Active TSS	Colon Smooth Muscle	Colon
9	chr2:183988200-183989800	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:183988200-183990000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:183988200-183990000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:183988200-183990000	Active TSS	Brain Anterior Caudate	brain
13	chr2:183988200-183990000	Active TSS	Rectal Smooth Muscle	rectum
14	chr2:183988200-183990000	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr2:183988200-183990000	Active TSS	NHEK	skin
16	chr2:183988200-183990200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:183988200-183990200	Active TSS	Right Atrium	heart
18	chr2:183988200-183990200	Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr2:183988200-183990200	Active TSS	HSMMtube	muscle
20	chr2:183988200-183990400	Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:183988200-183990400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:183988200-183990400	Active TSS	Brain Angular Gyrus	brain
23	chr2:183988200-183990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:183988200-183990400	Active TSS	Fetal Brain Female	brain
25	chr2:183988200-183990400	Active TSS	Fetal Intestine Large	intestine
26	chr2:183988200-183990400	Active TSS	Fetal Stomach	stomach
27	chr2:183988200-183990400	Active TSS	HMEC	breast
28	chr2:183988200-183990400	Active TSS	NH-A	brain
29	chr2:183988200-183990600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:183988200-183990600	Active TSS	Ovary	ovary
31	chr2:183988200-183990600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:183988200-183990600	Active TSS	Stomach Smooth Muscle	stomach
33	chr2:183988200-183990600	Active TSS	NHDF-Ad	bronchial
34	chr2:183988200-183990800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:183988400-183989800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:183988400-183989800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:183988400-183989800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:183988400-183989800	Active TSS	Gastric	stomach
41	chr2:183988400-183989800	Active TSS	Pancreas	Pancrea
42	chr2:183988400-183989800	Active TSS	Small Intestine	intestine
43	chr2:183988400-183990000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:183988400-183990000	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr2:183988400-183990000	Active TSS	Aorta	Aorta
46	chr2:183988400-183990000	Active TSS	Brain Hippocampus Middle	brain
47	chr2:183988400-183990000	Active TSS	Brain Substantia Nigra	brain
48	chr2:183988400-183990000	Active TSS	Esophagus	oesophagus
49	chr2:183988400-183990000	Active TSS	Fetal Kidney	kidney
50	chr2:183988400-183990000	Active TSS	Left Ventricle	heart

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