Variant report

Variant	nsv875724
Chromosome Location	chr2:205572718-205727222
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:13)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
2	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
3	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:
4	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:
5	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
6	chr2:205723617..205725301-chr2:205726731..205729723,2	K562	blood:
7	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
8	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:
9	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
10	chr2:205723617..205725301-chr2:205726731..205729723,2	K562	blood:
11	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
12	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:
13	chr2:205591038..205592636-chr2:205700009..205701787,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAPH1-7	chr2:205582054-205582579	NONHSAT076509

No data

Extended variants
information (count: 5445 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:5445 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2160690	chr2:205572718-205572719	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530045118	chr2:205572747-205572748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548077233	chr2:205572762-205572763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149119908	chr2:205572766-205572767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532277525	chr2:205572775-205572776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186546164	chr2:205572784-205572785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77977975	chr2:205572804-205572805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2052349	chr2:205572811-205572812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2052348	chr2:205572828-205572829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs573688680	chr2:205572847-205572848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143655621	chr2:205572855-205572856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148098577	chr2:205572873-205572874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552664511	chr2:205572876-205572877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192935665	chr2:205572930-205572931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555277461	chr2:205572933-205572934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75298494	chr2:205572935-205572936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374718793	chr2:205572950-205572951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534199463	chr2:205572969-205572970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141871197	chr2:205572985-205572986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs115675832	chr2:205573038-205573039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535895295	chr2:205573120-205573121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544338982	chr2:205573133-205573134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184569591	chr2:205573158-205573159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574526755	chr2:205573197-205573198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541756918	chr2:205573212-205573213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560031995	chr2:205573278-205573279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114927722	chr2:205573290-205573291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545401423	chr2:205573400-205573401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146092963	chr2:205573433-205573434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544857512	chr2:205573446-205573447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369081402	chr2:205573462-205573463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531477106	chr2:205573494-205573495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs13412778	chr2:205573519-205573520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569461279	chr2:205573530-205573531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150847401	chr2:205573532-205573533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566604179	chr2:205573535-205573536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534012996	chr2:205573537-205573538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199922302	chr2:205573571-205573572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79873148	chr2:205573593-205573594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548763727	chr2:205573597-205573598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371465059	chr2:205573619-205573620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs373954857	chr2:205573625-205573626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73059079	chr2:205573698-205573699	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192988936	chr2:205573705-205573706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558918964	chr2:205573710-205573711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570747372	chr2:205573777-205573778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371571053	chr2:205573849-205573850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556366690	chr2:205573877-205573878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574558269	chr2:205573879-205573880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541647558	chr2:205573880-205573881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
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
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
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Cancer	20164920	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD

Chromatin state (count:645 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205569800-205580800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:205570000-205581800	Weak transcription	Ovary	ovary
4	chr2:205570600-205580400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:205570600-205582600	Weak transcription	Psoas Muscle	Psoas
6	chr2:205571400-205587800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:205572000-205582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:205572000-205592200	Weak transcription	Pancreas	Pancrea
9	chr2:205572200-205573600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:205572200-205580200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:205572200-205580200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:205572200-205583600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:205572200-205587200	Weak transcription	HSMMtube	muscle
14	chr2:205572200-205590600	Weak transcription	Left Ventricle	heart
15	chr2:205572200-205596600	Weak transcription	HSMM	muscle
16	chr2:205572200-205597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:205572400-205576400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:205573600-205574400	Enhancers	Colon Smooth Muscle	Colon
19	chr2:205574000-205574200	Enhancers	Fetal Kidney	kidney
20	chr2:205574200-205574600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr2:205574200-205576200	Weak transcription	Fetal Intestine Small	intestine
22	chr2:205574400-205580000	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:205574600-205578400	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:205576200-205576600	Strong transcription	Fetal Intestine Small	intestine
25	chr2:205576400-205576800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:205576600-205580000	Weak transcription	Fetal Intestine Small	intestine
27	chr2:205576800-205580400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:205577400-205577600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:205577800-205578400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr2:205578400-205578600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr2:205578400-205578600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr2:205578600-205579000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:205578600-205582800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:205578800-205580800	Enhancers	Fetal Lung	lung
35	chr2:205579000-205579400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr2:205579600-205591400	Weak transcription	Fetal Intestine Large	intestine
37	chr2:205580000-205580400	Enhancers	Colon Smooth Muscle	Colon
38	chr2:205580200-205580400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:205580200-205580600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:205580200-205580800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:205580400-205580600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:205580400-205580600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:205580600-205581600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:205580600-205583600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:205580600-205586800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:205580800-205595400	Weak transcription	Fetal Lung	lung
47	chr2:205582200-205582600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:205582400-205582600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr2:205582400-205583600	Enhancers	Esophagus	oesophagus
50	chr2:205582600-205582800	Enhancers	Psoas Muscle	Psoas

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