Variant report

Variant	nsv536081
Chromosome Location	chr2:187265730-187327561
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:20)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187322993..187325596-chr2:187326651..187329126,2	K562	blood:
2	chr2:187306167..187309743-chr2:187310167..187312032,3	K562	blood:
3	chr2:187282655..187284995-chr2:187288097..187289675,2	K562	blood:
4	chr2:187309255..187311222-chr2:187349576..187351207,2	K562	blood:
5	chr2:187306167..187309743-chr2:187310167..187312032,3	K562	blood:
6	chr2:187282655..187284995-chr2:187288097..187289675,2	K562	blood:
7	chr2:187121005..187121910-chr2:187323354..187324097,2	MCF-7	breast:
8	chr2:186676855..186679682-chr2:187312216..187314480,2	MCF-7	breast:
9	chr2:187325067..187326702-chr2:187350387..187352289,2	K562	blood:
10	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
11	chr2:187314908..187317613-chr2:187318535..187320583,2	K562	blood:
12	chr2:187305246..187310683-chr2:187312852..187317322,5	K562	blood:
13	chr2:187278384..187280283-chr2:187283538..187285268,2	K562	blood:
14	chr2:187314908..187317613-chr2:187318535..187320583,2	K562	blood:
15	chr2:187303788..187305427-chr2:187350144..187352436,2	K562	blood:
16	chr2:187322993..187325596-chr2:187326651..187329126,2	K562	blood:
17	chr2:187284387..187285958-chr2:187350092..187352490,2	MCF-7	breast:
18	chr2:187309177..187311666-chr2:187386026..187388228,2	K562	blood:
19	chr2:187305246..187310683-chr2:187312852..187317322,5	K562	blood:
20	chr2:187307548..187314532-chr2:187345746..187353147,10	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187265288-187266622	NONHSAT075981
2	lnc-ZC3H15-1	chr2:187319228-187321649	NONHSAT075995
3	lnc-ZSWIM2-3	chr2:187321442-187321580	NONHSAT075981
4	lnc-ZSWIM2-3	chr2:187288141-187289010	NONHSAT075981
5	lnc-ZSWIM2-3	chr2:187321442-187321578	NONHSAT075991

No data

Variant related genes	Relation type
ENSG00000065548	chromatin interactions

Extended variants
information (count: 2122 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:2122 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569307189	chr2:187265756-187265757	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs117958224	chr2:187265761-187265762	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs191151702	chr2:187265783-187265784	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs148216566	chr2:187265846-187265847	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs534818656	chr2:187265884-187265885	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs79881845	chr2:187265889-187265890	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs574571221	chr2:187265963-187265964	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs541795225	chr2:187265984-187265985	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs80275038	chr2:187265996-187265997	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs182936940	chr2:187266006-187266007	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs569405987	chr2:187266020-187266021	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs570335657	chr2:187266034-187266035	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs79436141	chr2:187266132-187266133	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs555076851	chr2:187266173-187266174	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs563848183	chr2:187266190-187266191	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs528128826	chr2:187266226-187266227	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs540321940	chr2:187266233-187266234	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs562183723	chr2:187266248-187266249	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs145190319	chr2:187266260-187266261	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs137887319	chr2:187266275-187266276	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs187574869	chr2:187266313-187266314	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs191622712	chr2:187266314-187266315	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs79911211	chr2:187266337-187266338	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs566972672	chr2:187266338-187266339	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs534078213	chr2:187266343-187266344	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs535925280	chr2:187266357-187266358	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs112148058	chr2:187266403-187266404	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs370348939	chr2:187266435-187266436	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs535612019	chr2:187266440-187266441	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs556853801	chr2:187266496-187266497	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs12622084	chr2:187266504-187266505	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545401386	chr2:187266512-187266513	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs558715701	chr2:187266519-187266520	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs368625461	chr2:187266523-187266524	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs10203443	chr2:187266548-187266549	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs12464846	chr2:187266564-187266565	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561798006	chr2:187266565-187266566	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs555463254	chr2:187266567-187266568	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs544754492	chr2:187266589-187266590	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs563185124	chr2:187266603-187266604	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs533620138	chr2:187266648-187266649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13426950	chr2:187266665-187266666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10205846	chr2:187266678-187266679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566911865	chr2:187266685-187266686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527665602	chr2:187266688-187266689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368323183	chr2:187266700-187266701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549232948	chr2:187266703-187266704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567716161	chr2:187266759-187266760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535300053	chr2:187266764-187266765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10182347	chr2:187266830-187266831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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
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
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:407 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187265200-187277400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:187270400-187271200	Enhancers	Fetal Intestine Small	intestine
3	chr2:187271200-187275400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:187272400-187274400	Weak transcription	Aorta	Aorta
5	chr2:187272800-187275000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:187272800-187275600	Weak transcription	HepG2	liver
7	chr2:187273600-187286800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:187274200-187294000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:187274400-187274600	ZNF genes & repeats	Aorta	Aorta
10	chr2:187275000-187275600	Strong transcription	Primary T cells from cord blood	blood
11	chr2:187275600-187276000	Enhancers	HepG2	liver
12	chr2:187275600-187290800	Weak transcription	Primary T cells from cord blood	blood
13	chr2:187275800-187276200	Enhancers	Liver	Liver
14	chr2:187276000-187279400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:187276000-187281400	Weak transcription	HepG2	liver
16	chr2:187276000-187287000	Weak transcription	Ovary	ovary
17	chr2:187276200-187281000	Weak transcription	Liver	Liver
18	chr2:187276200-187293000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:187276600-187287000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:187277000-187287000	Weak transcription	Aorta	Aorta
21	chr2:187277400-187279000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
22	chr2:187278200-187291200	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:187278600-187279200	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr2:187279000-187291200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:187279200-187288400	Weak transcription	Fetal Intestine Small	intestine
26	chr2:187279400-187282200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:187279600-187291400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:187279800-187300600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr2:187281000-187281600	Strong transcription	Liver	Liver
30	chr2:187281000-187286200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:187281000-187287000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:187281200-187290000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:187281400-187282000	Enhancers	HepG2	liver
34	chr2:187281600-187292800	Weak transcription	Liver	Liver
35	chr2:187282000-187283400	Weak transcription	HepG2	liver
36	chr2:187282200-187283800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:187282400-187299200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:187283000-187290400	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:187283000-187291200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:187283400-187283800	Enhancers	HepG2	liver
41	chr2:187283800-187290800	Weak transcription	HepG2	liver
42	chr2:187283800-187291200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:187285200-187285400	Bivalent Enhancer	Fetal Lung	lung
44	chr2:187285200-187285400	Enhancers	GM12878-XiMat	blood
45	chr2:187285400-187286600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr2:187285600-187286200	Weak transcription	GM12878-XiMat	blood
47	chr2:187286200-187286400	Enhancers	GM12878-XiMat	blood
48	chr2:187286200-187286800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:187286200-187286800	Enhancers	Fetal Lung	lung
50	chr2:187286200-187287600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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