Variant report

Variant	esv2763624
Chromosome Location	chr7:12917029-12951820
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:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12929913..12934409-chr7:12936601..12940270,4	K562	blood:
2	chr7:12917507..12920028-chr7:12920746..12923468,3	K562	blood:
3	chr7:12911820..12914851-chr7:12918750..12922159,3	K562	blood:
4	chr7:12941736..12945870-chr7:12950835..12954445,3	K562	blood:
5	chr7:12946651..12949444-chr7:12952675..12955185,2	K562	blood:
6	chr7:12724922..12727661-chr7:12949470..12951778,2	K562	blood:
7	chr7:12915481..12917069-chr7:12918894..12921081,2	K562	blood:
8	chr7:12929913..12934409-chr7:12936601..12940270,4	K562	blood:
9	chr7:12921059..12923794-chr7:12925432..12927147,3	K562	blood:
10	chr7:12918017..12920040-chr7:12923535..12925762,2	K562	blood:
11	chr7:12903544..12904421-chr7:12938353..12938922,2	K562	blood:
12	chr7:12947440..12949017-chr7:12950414..12952410,2	K562	blood:
13	chr7:12929913..12931505-chr7:12935400..12938154,2	K562	blood:
14	chr7:12917507..12920028-chr7:12920746..12923468,3	K562	blood:
15	chr7:12925132..12926645-chr7:12928976..12931820,2	K562	blood:
16	chr7:12941736..12945870-chr7:12950835..12954445,3	K562	blood:
17	chr7:12921059..12923794-chr7:12925432..12927147,3	K562	blood:
18	chr7:12947440..12949017-chr7:12950414..12952410,2	K562	blood:
19	chr7:12735943..12738282-chr7:12934413..12937137,2	K562	blood:
20	chr7:12925132..12926645-chr7:12928976..12931820,2	K562	blood:
21	chr7:12929913..12931505-chr7:12935400..12938154,2	K562	blood:
22	chr7:12939417..12940941-chr7:12942012..12944053,2	K562	blood:
23	chr7:12918017..12920040-chr7:12923535..12925762,2	K562	blood:
24	chr7:12912617..12914205-chr7:12916335..12918399,2	K562	blood:
25	chr7:12939417..12940941-chr7:12942012..12944053,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122644	chromatin interactions
ENSG00000222974	chromatin interactions
ENSG00000271253	chromatin interactions

Extended variants
information (count: 1703 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:1703 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547651308	chr7:12918897-12918898	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188870666	chr7:12918898-12918899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34057597	chr7:12918914-12918915	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535939310	chr7:12918959-12918960	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs539910138	chr7:12919031-12919032	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535251853	chr7:12919101-12919102	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs10277517	chr7:12919108-12919109	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535594397	chr7:12919150-12919151	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575179330	chr7:12919181-12919182	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528786312	chr7:12919212-12919213	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369191765	chr7:12919213-12919214	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117511764	chr7:12919218-12919219	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541245775	chr7:12919223-12919224	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs73061935	chr7:12919224-12919225	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs139150724	chr7:12919243-12919244	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs115366285	chr7:12919245-12919246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs577931730	chr7:12919266-12919267	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs34504314	chr7:12919270-12919271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374248648	chr7:12919281-12919282	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs6978013	chr7:12919293-12919294	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111258939	chr7:12919295-12919296	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs112171981	chr7:12919315-12919316	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs561862671	chr7:12919321-12919322	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs370094404	chr7:12919332-12919333	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs147740640	chr7:12919367-12919368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572793073	chr7:12919369-12919370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs10280534	chr7:12919380-12919381	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs193221735	chr7:12919494-12919495	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571110038	chr7:12919503-12919504	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs564648644	chr7:12919518-12919519	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs563209320	chr7:12919531-12919532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs578135652	chr7:12919604-12919605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs183185620	chr7:12919626-12919627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549748733	chr7:12919632-12919633	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs569626443	chr7:12919641-12919642	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187478303	chr7:12919656-12919657	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117454246	chr7:12919765-12919766	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs149944467	chr7:12919770-12919771	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7795573	chr7:12919775-12919776	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376862639	chr7:12919796-12919797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534792985	chr7:12919819-12919820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140503055	chr7:12919840-12919841	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376022037	chr7:12919841-12919842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78500144	chr7:12919868-12919869	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577865080	chr7:12919900-12919901	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531288528	chr7:12919902-12919903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543304795	chr7:12919954-12919955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs563608373	chr7:12919974-12919975	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs575993967	chr7:12920047-12920048	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541843005	chr7:12920058-12920059	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12921200-12922400	Enhancers	Liver	Liver
2	chr7:12921800-12922200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:12921800-12922200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:12921800-12922200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:12921800-12922400	Enhancers	NHEK	skin
6	chr7:12922000-12922200	Enhancers	Aorta	Aorta
7	chr7:12922000-12922200	Enhancers	A549	lung
8	chr7:12922200-12924400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12922200-12924600	Weak transcription	Aorta	Aorta
10	chr7:12922200-12928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:12922200-12934000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:12922400-12923600	Weak transcription	A549	lung
13	chr7:12922400-12924400	Weak transcription	NHEK	skin
14	chr7:12923200-12923400	Enhancers	Psoas Muscle	Psoas
15	chr7:12923200-12923800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr7:12923200-12925200	Enhancers	HSMM	muscle
17	chr7:12923200-12925200	Enhancers	Osteobl	bone
18	chr7:12923600-12925400	Enhancers	A549	lung
19	chr7:12923800-12924600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:12923800-12924600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr7:12923800-12925200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:12924200-12924800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:12924200-12925200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:12924400-12925000	Enhancers	NHEK	skin
25	chr7:12924400-12925200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:12924400-12925200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:12924400-12925400	Enhancers	NH-A	brain
28	chr7:12924600-12924800	Enhancers	Aorta	Aorta
29	chr7:12924600-12925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:12924600-12925400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:12924800-12925200	Enhancers	HSMMtube	muscle
32	chr7:12924800-12925600	Weak transcription	Aorta	Aorta
33	chr7:12925000-12925200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:12925200-12928600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:12925200-12928600	Weak transcription	Osteobl	bone
36	chr7:12925200-12928800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:12925200-12928800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:12925200-12928800	Weak transcription	HSMM	muscle
39	chr7:12925400-12928600	Weak transcription	A549	lung
40	chr7:12925400-12928800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:12928000-12928200	Enhancers	Aorta	Aorta
42	chr7:12928600-12929000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:12928600-12929000	Enhancers	A549	lung
44	chr7:12928600-12929200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:12928600-12929200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:12928600-12929200	Enhancers	Osteobl	bone
47	chr7:12928800-12929200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:12928800-12929200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:12928800-12929200	Enhancers	Muscle Satellite Cultured Cells	--
50	chr7:12928800-12929200	Enhancers	HSMM	muscle

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