Variant report

Variant	esv1844097
Chromosome Location	chr7:111686153-111723488
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111694475..111696328-chr7:111697241..111699580,2	K562	blood:
2	chr7:111701489..111703722-chr7:111708917..111711831,2	MCF-7	breast:
3	chr7:111679099..111681078-chr7:111697466..111700106,2	MCF-7	breast:
4	chr7:111712128..111713955-chr7:111714116..111716651,2	MCF-7	breast:
5	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:
6	chr7:111696985..111699973-chr7:111702426..111704136,2	K562	blood:
7	chr7:111711136..111713687-chr7:111723265..111726073,2	MCF-7	breast:
8	chr7:111712128..111713955-chr7:111714116..111716651,2	MCF-7	breast:
9	chr7:111722754..111725358-chr7:111846243..111848256,2	MCF-7	breast:
10	chr7:111711136..111713687-chr7:111723265..111726073,2	MCF-7	breast:
11	chr7:111719561..111720111-chr7:112051016..112051524,2	MCF-7	breast:
12	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
13	chr7:111705385..111707110-chr7:111712714..111715574,2	MCF-7	breast:
14	chr7:111705385..111707110-chr7:111712714..111715574,2	MCF-7	breast:
15	chr7:111694475..111696328-chr7:111697241..111699580,2	K562	blood:
16	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
17	chr7:111696985..111699973-chr7:111702426..111704136,2	K562	blood:
18	chr7:111718019..111719728-chr7:111726986..111728960,2	MCF-7	breast:
19	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:
20	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:
21	chr7:111701489..111703722-chr7:111708917..111711831,2	MCF-7	breast:
22	chr7:111667061..111669402-chr7:111698388..111701090,2	K562	blood:
23	chr7:111648763..111650835-chr7:111713942..111716550,2	K562	blood:
24	chr7:111683205..111686070-chr7:111696191..111697758,2	K562	blood:
25	chr7:111721035..111722609-chr7:112204033..112205588,2	MCF-7	breast:
26	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:
27	chr7:111381576..111382122-chr7:111719685..111720408,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198839	chromatin interactions
ENSG00000128512	chromatin interactions

Extended variants
information (count: 1378 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1378 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11981032	chr7:111686153-111686154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75693355	chr7:111686191-111686192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533434801	chr7:111686204-111686205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190205526	chr7:111686208-111686209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200393567	chr7:111686231-111686232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553219929	chr7:111686241-111686242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531304951	chr7:111686247-111686248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181076578	chr7:111686250-111686251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17159201	chr7:111686301-111686302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147706313	chr7:111686321-111686322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541805757	chr7:111686328-111686329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184316098	chr7:111686352-111686353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142318286	chr7:111686385-111686386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188785275	chr7:111686422-111686423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576531911	chr7:111686466-111686467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56031125	chr7:111686505-111686506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576520246	chr7:111686539-111686540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537423797	chr7:111686597-111686598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555607443	chr7:111686605-111686606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs61663379	chr7:111686732-111686733	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541301243	chr7:111686751-111686752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60041972	chr7:111686847-111686848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs577767991	chr7:111686897-111686898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545312892	chr7:111686921-111686922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146387229	chr7:111686976-111686977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181347605	chr7:111686994-111686995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185564083	chr7:111687150-111687151	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs561672482	chr7:111687239-111687240	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190670581	chr7:111687250-111687251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs58069904	chr7:111687251-111687252	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57019482	chr7:111687258-111687259	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs7797442	chr7:111687303-111687304	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7780545	chr7:111687322-111687323	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569908837	chr7:111687353-111687354	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs367993916	chr7:111687376-111687377	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs549440537	chr7:111687454-111687455	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs78623564	chr7:111687460-111687461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371828217	chr7:111687499-111687500	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs375112304	chr7:111687505-111687506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs57216672	chr7:111687507-111687508	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs60138661	chr7:111687511-111687512	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs181472066	chr7:111687585-111687586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs553016958	chr7:111687602-111687603	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370652131	chr7:111687624-111687625	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs577838451	chr7:111687687-111687688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs145877513	chr7:111687727-111687728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs187661202	chr7:111687730-111687731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559120925	chr7:111687832-111687833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375135283	chr7:111687841-111687842	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112739576	chr7:111687850-111687851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	20824129	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111673400-111689600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr7:111677000-111693800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:111677400-111686600	Weak transcription	Left Ventricle	heart
4	chr7:111678800-111687800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:111678800-111701200	Weak transcription	Right Atrium	heart
6	chr7:111679000-111689600	Weak transcription	Liver	Liver
7	chr7:111681400-111693200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:111683000-111698400	Weak transcription	HUVEC	blood vessel
9	chr7:111683200-111690400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:111683800-111689800	Weak transcription	Fetal Lung	lung
11	chr7:111685200-111689600	Weak transcription	Brain Angular Gyrus	brain
12	chr7:111685600-111686200	Enhancers	Brain Anterior Caudate	brain
13	chr7:111685600-111689000	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:111686000-111686200	Enhancers	Brain Cingulate Gyrus	brain
15	chr7:111686200-111687800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:111686200-111689000	Weak transcription	Brain Anterior Caudate	brain
17	chr7:111686600-111686800	Enhancers	Gastric	stomach
18	chr7:111686600-111686800	Enhancers	Left Ventricle	heart
19	chr7:111687000-111688000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
20	chr7:111687800-111688000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:111687800-111688200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:111688000-111689600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:111688200-111705200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:111689000-111691200	Enhancers	Brain Anterior Caudate	brain
25	chr7:111689000-111691400	Enhancers	Brain Substantia Nigra	brain
26	chr7:111689000-111691600	Enhancers	Brain Hippocampus Middle	brain
27	chr7:111689600-111690200	Enhancers	Brain Cingulate Gyrus	brain
28	chr7:111689600-111690400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:111689600-111690800	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:111689600-111691200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:111689600-111691400	Enhancers	Liver	Liver
32	chr7:111689600-111691400	Enhancers	Brain Angular Gyrus	brain
33	chr7:111689600-111691400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr7:111689800-111690000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:111689800-111690800	Enhancers	Colon Smooth Muscle	Colon
36	chr7:111689800-111691000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:111689800-111691000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:111689800-111691000	Enhancers	Fetal Heart	heart
39	chr7:111689800-111691000	Enhancers	HepG2	liver
40	chr7:111689800-111691200	Enhancers	Fetal Lung	lung
41	chr7:111689800-111691600	Enhancers	A549	lung
42	chr7:111690000-111690400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:111690000-111690800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:111690000-111691000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:111690200-111690400	Weak transcription	Ovary	ovary
46	chr7:111690200-111692600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:111690400-111690600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:111690400-111690600	Enhancers	Ovary	ovary
49	chr7:111690400-111690800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:111690400-111692800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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