Variant report

Variant	esv2759111
Chromosome Location	chr2:205539832-205841174
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:68)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:205410243..205411831-chr2:205556577..205558475,2	MCF-7	breast:
2	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:
3	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:
4	chr2:205833656..205836377-chr2:205837427..205839430,2	MCF-7	breast:
5	chr2:205556432..205556971-chr2:206544576..206545088,2	MCF-7	breast:
6	chr2:205189312..205190207-chr2:205556559..205557286,2	MCF-7	breast:
7	chr2:205796810..205799566-chr2:205802693..205804707,2	K562	blood:
8	chr2:205831509..205833722-chr2:205844101..205845736,2	MCF-7	breast:
9	chr2:205833656..205836377-chr2:205837427..205839430,2	MCF-7	breast:
10	chr2:205124532..205125408-chr2:205556318..205557398,4	MCF-7	breast:
11	chr2:205728566..205731008-chr2:205734010..205736358,2	MCF-7	breast:
12	chr2:205777795..205780059-chr2:205782908..205784767,2	K562	blood:
13	chr2:205650211..205653326-chr2:205654047..205656174,3	K562	blood:
14	chr2:205754789..205757751-chr2:205758546..205761529,2	MCF-7	breast:
15	chr2:205790918..205792666-chr2:205795612..205798343,2	K562	blood:
16	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
17	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:
18	chr2:205543850..205546567-chr2:205547015..205549174,2	K562	blood:
19	chr2:205769169..205771669-chr2:205774972..205776726,2	K562	blood:
20	chr2:205775239..205780658-chr2:205780853..205785794,7	K562	blood:
21	chr2:205189870..205190739-chr2:205556292..205557192,3	MCF-7	breast:
22	chr2:205766164..205768552-chr2:205770065..205772348,2	K562	blood:
23	chr2:205723617..205725301-chr2:205726731..205729723,2	K562	blood:
24	chr2:205754789..205757751-chr2:205758546..205761529,2	MCF-7	breast:
25	chr2:205808089..205812060-chr2:205814975..205820310,4	MCF-7	breast:
26	chr2:205728566..205731008-chr2:205734010..205736358,2	MCF-7	breast:
27	chr2:205731165..205733458-chr2:205733556..205735435,2	MCF-7	breast:
28	chr2:205731165..205733458-chr2:205733556..205735435,2	MCF-7	breast:
29	chr2:205805282..205807936-chr2:205834299..205837286,2	MCF-7	breast:
30	chr2:205808089..205812060-chr2:205814975..205820310,4	MCF-7	breast:
31	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
32	chr2:205608885..205610697-chr2:205614525..205616047,2	K562	blood:
33	chr2:205820065..205822352-chr2:205830628..205833134,2	MCF-7	breast:
34	chr2:205820065..205822352-chr2:205830628..205833134,2	MCF-7	breast:
35	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:
36	chr2:205796810..205799566-chr2:205802693..205804707,2	K562	blood:
37	chr2:205825468..205827172-chr2:205831962..205833494,2	K562	blood:
38	chr2:205782338..205784623-chr2:205785238..205787754,3	K562	blood:
39	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:
40	chr2:205528626..205531544-chr2:205538166..205540869,3	MCF-7	breast:
41	chr2:205190371..205191309-chr2:205556343..205557179,2	MCF-7	breast:
42	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:
43	chr2:205782338..205784623-chr2:205785238..205787754,3	K562	blood:
44	chr2:205769169..205772308-chr2:205773628..205776726,4	K562	blood:
45	chr2:205777795..205780059-chr2:205782908..205784767,2	K562	blood:
46	chr2:205663276..205663797-chr3:140910816..140911375,4	K562	blood:
47	chr2:205825468..205827172-chr2:205831962..205833494,2	K562	blood:
48	chr2:205707571..205709179-chr2:205709317..205711354,2	MCF-7	breast:
49	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
50	chr2:205795525..205799566-chr2:205802693..205806119,4	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000116117	chromatin interactions

Extended variants
information (count: 11123 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:11123 , 50 per page) page: 1 2 3 4 5 6 7 ... 223

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148877143	chr2:205539865-205539866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551829601	chr2:205539875-205539876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113075717	chr2:205539884-205539885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565152911	chr2:205539896-205539897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532529164	chr2:205539953-205539954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550867545	chr2:205539994-205539995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs193269963	chr2:205540028-205540029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142662519	chr2:205540047-205540048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569205303	chr2:205540054-205540055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548540839	chr2:205540062-205540063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183096937	chr2:205540079-205540080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16836499	chr2:205540080-205540081	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35999742	chr2:205540121-205540122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186666706	chr2:205540144-205540145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538033024	chr2:205540158-205540159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556540660	chr2:205540171-205540172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs151014023	chr2:205540196-205540197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191478447	chr2:205540216-205540217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376129358	chr2:205540256-205540257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566826896	chr2:205540292-205540293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571913515	chr2:205540358-205540359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141147032	chr2:205540394-205540395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556458730	chr2:205540474-205540475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563792904	chr2:205540510-205540511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532615763	chr2:205540527-205540528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556976382	chr2:205540624-205540625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576180363	chr2:205540662-205540663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563066722	chr2:205540680-205540681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575465308	chr2:205540727-205540728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530445001	chr2:205540740-205540741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542857547	chr2:205540754-205540755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548565342	chr2:205540755-205540756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377752496	chr2:205540758-205540759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566865848	chr2:205540798-205540799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199590331	chr2:205540832-205540833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370144335	chr2:205540835-205540836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183601236	chr2:205540840-205540841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561097065	chr2:205540845-205540846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570946862	chr2:205540846-205540847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189990109	chr2:205540939-205540940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145625430	chr2:205540941-205540942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554847645	chr2:205540944-205540945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541587956	chr2:205540947-205540948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568135977	chr2:205540974-205540975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535759155	chr2:205541001-205541002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553742689	chr2:205541019-205541020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192643350	chr2:205541060-205541061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17595168	chr2:205541068-205541069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs374585720	chr2:205541080-205541081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557471937	chr2:205541090-205541091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1818 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205520800-205542800	Weak transcription	Psoas Muscle	Psoas
2	chr2:205521000-205546200	Weak transcription	Aorta	Aorta
3	chr2:205528000-205546200	Weak transcription	Pancreas	Pancrea
4	chr2:205531200-205545200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:205535200-205545200	Weak transcription	Colon Smooth Muscle	Colon
6	chr2:205535400-205542200	Weak transcription	HSMMtube	muscle
7	chr2:205535400-205545600	Weak transcription	Fetal Lung	lung
8	chr2:205539200-205543600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:205539400-205544600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:205539400-205544800	Weak transcription	NH-A	brain
11	chr2:205539400-205544800	Weak transcription	Osteobl	bone
12	chr2:205539600-205543800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:205539800-205540000	Enhancers	HSMM	muscle
14	chr2:205539800-205547600	Weak transcription	HUVEC	blood vessel
15	chr2:205540000-205543000	Weak transcription	HSMM	muscle
16	chr2:205542200-205542600	Enhancers	HSMMtube	muscle
17	chr2:205542600-205543600	Weak transcription	HSMMtube	muscle
18	chr2:205542800-205543000	Weak transcription	Fetal Intestine Small	intestine
19	chr2:205542800-205543000	Enhancers	Psoas Muscle	Psoas
20	chr2:205543000-205543400	Weak transcription	Psoas Muscle	Psoas
21	chr2:205543000-205543400	ZNF genes & repeats	HSMM	muscle
22	chr2:205543000-205543600	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr2:205543400-205544800	Weak transcription	HSMM	muscle
24	chr2:205543600-205543800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:205543600-205544200	ZNF genes & repeats	HSMMtube	muscle
26	chr2:205543600-205548200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:205544200-205545800	Weak transcription	HSMMtube	muscle
28	chr2:205544600-205547000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:205544800-205545400	Weak transcription	NHLF	lung
30	chr2:205544800-205546400	Enhancers	NH-A	brain
31	chr2:205544800-205546400	Enhancers	Osteobl	bone
32	chr2:205544800-205547000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:205544800-205547600	Enhancers	HSMM	muscle
34	chr2:205545200-205545400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:205545200-205547000	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:205545200-205547600	Enhancers	Colon Smooth Muscle	Colon
37	chr2:205545400-205545600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:205545400-205546400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:205545400-205546600	Enhancers	NHLF	lung
40	chr2:205545400-205547000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:205545600-205546400	Enhancers	Stomach Smooth Muscle	stomach
42	chr2:205545600-205546600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:205545600-205547600	Enhancers	Fetal Lung	lung
44	chr2:205545600-205560800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:205545800-205546800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:205545800-205547400	Enhancers	HSMMtube	muscle
47	chr2:205546000-205546400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:205546000-205546400	Enhancers	Fetal Heart	heart
49	chr2:205546000-205546600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:205546000-205546600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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