Variant report

Variant	esv2762245
Chromosome Location	chr2:15418054-15480441
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:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:15478468..15481061-chr2:15726358..15729140,3	K562	blood:
2	chr2:15474071..15476283-chr2:15477859..15479416,2	K562	blood:
3	chr2:15461813..15464374-chr2:15467538..15470123,2	K562	blood:
4	chr2:15461136..15463222-chr2:15470302..15472625,2	K562	blood:
5	chr2:15461136..15463222-chr2:15470302..15472625,2	K562	blood:
6	chr2:15478833..15480841-chr2:15514373..15516170,2	K562	blood:
7	chr2:15465971..15468017-chr2:15468556..15470457,2	K562	blood:
8	chr2:15409700..15412654-chr2:15418398..15420590,2	MCF-7	breast:
9	chr2:15465971..15468017-chr2:15468556..15470457,2	K562	blood:
10	chr2:15415534..15417403-chr2:15419778..15422122,2	K562	blood:
11	chr2:15426134..15427751-chr2:15431518..15433743,2	K562	blood:
12	chr2:15449509..15451400-chr2:15477765..15480475,2	K562	blood:
13	chr2:15464816..15466527-chr2:15471829..15474084,2	K562	blood:
14	chr2:15463950..15466676-chr2:15477015..15479749,2	K562	blood:
15	chr2:15470777..15474224-chr2:15481390..15483501,3	K562	blood:
16	chr14:28521530..28523106-chr2:15478875..15480395,2	MCF-7	breast:
17	chr2:15464816..15466527-chr2:15471829..15474084,2	K562	blood:
18	chr2:15449509..15451400-chr2:15477765..15480475,2	K562	blood:
19	chr2:15462645..15464374-chr2:15466589..15469038,2	K562	blood:
20	chr2:15425489..15428245-chr2:15447107..15448698,2	K562	blood:
21	chr2:15474071..15476283-chr2:15477859..15479416,2	K562	blood:
22	chr2:15463950..15466676-chr2:15477015..15479749,2	K562	blood:
23	chr2:15468553..15471127-chr2:15473450..15475630,2	MCF-7	breast:
24	chr2:15425489..15428245-chr2:15447107..15448698,2	K562	blood:
25	chr2:15439555..15442579-chr2:15444046..15447367,3	K562	blood:
26	chr2:15434170..15436259-chr2:15436569..15440215,4	K562	blood:
27	chr2:15462645..15464374-chr2:15466589..15469038,2	K562	blood:
28	chr16:75654893..75657069-chr2:15439929..15441624,2	MCF-7	breast:
29	chr2:15426134..15427751-chr2:15431518..15433743,2	K562	blood:
30	chr2:15468553..15471127-chr2:15473450..15475630,2	MCF-7	breast:
31	chr2:15434164..15436752-chr2:15730403..15732311,2	K562	blood:
32	chr2:15410930..15412856-chr2:15417207..15419460,2	K562	blood:
33	chr2:15448335..15451061-chr2:15451513..15453897,2	K562	blood:
34	chr2:15469110..15470779-chr2:15719672..15721797,2	K562	blood:
35	chr2:15435220..15437272-chr2:15520957..15522919,2	MCF-7	breast:
36	chr2:15434170..15436259-chr2:15436569..15440215,4	K562	blood:
37	chr2:15448335..15451061-chr2:15451513..15453897,2	K562	blood:
38	chr2:15461813..15464374-chr2:15467538..15470123,2	K562	blood:
39	chr2:15439555..15442579-chr2:15444046..15447367,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079785	chromatin interactions
ENSG00000065457	chromatin interactions

Extended variants
information (count: 2355 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:2355 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3805093	chr2:15418054-15418055	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541251889	chr2:15418067-15418068	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs62119461	chr2:15418070-15418071	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572392714	chr2:15418072-15418073	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116719082	chr2:15418135-15418136	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183469103	chr2:15418256-15418257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148928498	chr2:15418281-15418282	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572784916	chr2:15418316-15418317	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531794205	chr2:15418317-15418318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201867157	chr2:15418326-15418327	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550006137	chr2:15418328-15418329	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545563816	chr2:15418337-15418338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561826942	chr2:15418351-15418352	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529093860	chr2:15418418-15418419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550323338	chr2:15418424-15418425	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547762570	chr2:15418466-15418467	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551391534	chr2:15418494-15418495	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369269776	chr2:15418525-15418526	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187209050	chr2:15418541-15418542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145375821	chr2:15418546-15418547	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551323558	chr2:15418576-15418577	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569673525	chr2:15418598-15418599	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537102657	chr2:15418624-15418625	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs80020259	chr2:15418654-15418655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79189996	chr2:15418687-15418688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190885682	chr2:15418765-15418766	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs62119462	chr2:15418799-15418800	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs572680291	chr2:15418836-15418837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147741360	chr2:15418840-15418841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550459587	chr2:15418860-15418861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564475571	chr2:15418864-15418865	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371551046	chr2:15418866-15418867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182360549	chr2:15418875-15418876	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142606150	chr2:15418889-15418890	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146910948	chr2:15418927-15418928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561124653	chr2:15418952-15418953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186703325	chr2:15419044-15419045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191889782	chr2:15419052-15419053	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567454847	chr2:15419053-15419054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535936174	chr2:15419076-15419077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148339207	chr2:15419093-15419094	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78697450	chr2:15419105-15419106	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530148865	chr2:15419110-15419111	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182952916	chr2:15419136-15419137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs188839511	chr2:15419150-15419151	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3792575	chr2:15419183-15419184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548714392	chr2:15419194-15419195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192911673	chr2:15419202-15419203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560665471	chr2:15419245-15419246	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535684613	chr2:15419256-15419257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	20607354	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	19270706	CNVD
Prostate cancer	19258504	CNVD
Neuroblastoma	19638189	CNVD
Neuroblastoma	19435921	CNVD
Neuroblastoma	18574593	CNVD
Acute myeloid leukemia	18000384	CNVD
Medulloblastoma	16968546	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21258086	CNVD
Neuroblastoma	21258086	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD
Lung cancer	17925434	CNVD
Medulloblastoma	22160402	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	22522925	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1473 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:15365000-15442400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:15371400-15468400	Weak transcription	Esophagus	oesophagus
3	chr2:15372800-15432600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:15375000-15446000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:15375000-15469000	Weak transcription	Psoas Muscle	Psoas
6	chr2:15392400-15463400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:15396000-15426000	Weak transcription	Thymus	Thymus
8	chr2:15399600-15426600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:15399600-15453600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:15399800-15427200	Weak transcription	Right Ventricle	heart
11	chr2:15399800-15440600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr2:15399800-15470600	Weak transcription	HUVEC	blood vessel
13	chr2:15400000-15420800	Weak transcription	Gastric	stomach
14	chr2:15400000-15422600	Weak transcription	Aorta	Aorta
15	chr2:15400000-15422600	Weak transcription	Fetal Lung	lung
16	chr2:15400000-15430600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:15400600-15468400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:15400800-15456400	Weak transcription	Pancreas	Pancrea
19	chr2:15401000-15421800	Weak transcription	GM12878-XiMat	blood
20	chr2:15401200-15469600	Weak transcription	Small Intestine	intestine
21	chr2:15401400-15431800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:15402400-15431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:15402400-15457000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:15403200-15425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:15406200-15438600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:15406200-15440800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:15407400-15450000	Weak transcription	HMEC	breast
28	chr2:15407600-15426800	Weak transcription	Placenta	Placenta
29	chr2:15411200-15419200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:15411400-15433400	Strong transcription	Primary T cells from cord blood	blood
31	chr2:15411800-15420400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:15411800-15427000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:15412000-15422800	Weak transcription	Brain Angular Gyrus	brain
34	chr2:15412000-15437400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:15412000-15440800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:15412400-15426800	Weak transcription	HSMMtube	muscle
37	chr2:15412600-15426000	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:15412600-15426400	Weak transcription	Brain Substantia Nigra	brain
39	chr2:15412600-15432200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:15412800-15426200	Weak transcription	Fetal Brain Female	brain
41	chr2:15413000-15440600	Weak transcription	NHLF	lung
42	chr2:15413400-15424400	Weak transcription	NHDF-Ad	bronchial
43	chr2:15413800-15427200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:15413800-15431400	Weak transcription	Fetal Brain Male	brain
45	chr2:15413800-15453600	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:15414400-15418200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:15414400-15426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:15414600-15418200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr2:15414600-15426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:15415200-15431200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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