Variant report

Variant	esv1811558
Chromosome Location	chr7:121161987-121186293
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:
2	chr7:121034084..121038523-chr7:121179149..121184689,7	MCF-7	breast:
3	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:
4	chr7:121156175..121158638-chr7:121159425..121162281,4	K562	blood:
5	chr7:121170290..121173101-chr7:121184218..121187943,3	K562	blood:
6	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
7	chr7:121170153..121172336-chr7:121176867..121178434,2	K562	blood:
8	chr7:121172915..121174708-chr7:121180236..121182378,2	MCF-7	breast:
9	chr7:121172678..121174789-chr7:121174955..121177540,2	MCF-7	breast:
10	chr7:121170290..121173101-chr7:121184218..121187943,3	K562	blood:
11	chr7:121040420..121043103-chr7:121184130..121186484,2	MCF-7	breast:
12	chr7:121172678..121174789-chr7:121174955..121177540,2	MCF-7	breast:
13	chr7:121175299..121177676-chr7:121178169..121180108,2	MCF-7	breast:
14	chr7:121170153..121172336-chr7:121176867..121178434,2	K562	blood:
15	chr7:121171017..121172599-chr7:121198657..121201508,2	K562	blood:
16	chr7:121177464..121180384-chr7:121241185..121244036,2	K562	blood:
17	chr7:121169242..121171748-chr7:121184406..121186346,2	MCF-7	breast:
18	chr7:121169034..121171757-chr7:121172284..121174059,2	MCF-7	breast:
19	chr7:121172915..121174708-chr7:121180236..121182378,2	MCF-7	breast:
20	chr7:121175299..121177676-chr7:121178169..121180108,2	MCF-7	breast:
21	chr7:121165657..121169108-chr7:121169362..121172946,4	K562	blood:
22	chr7:121034207..121038636-chr7:121184740..121188442,10	MCF-7	breast:
23	chr7:121034427..121039443-chr7:121180318..121188172,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213310	chromatin interactions
ENSG00000196937	chromatin interactions

Extended variants
information (count: 988 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:988 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563187540	chr7:121162014-121162015	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552818353	chr7:121162043-121162044	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144532877	chr7:121162046-121162047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs549010013	chr7:121162067-121162068	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186974574	chr7:121162119-121162120	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192212265	chr7:121162140-121162141	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs575244165	chr7:121162188-121162189	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185221215	chr7:121162245-121162246	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs548563751	chr7:121162262-121162263	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs6953922	chr7:121162276-121162277	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs551002216	chr7:121162292-121162293	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs79749114	chr7:121162316-121162317	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139817331	chr7:121162465-121162466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201874773	chr7:121162473-121162474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113997494	chr7:121162491-121162492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114782897	chr7:121162492-121162493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115340227	chr7:121162496-121162497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114274285	chr7:121162497-121162498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532891362	chr7:121162509-121162510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552782832	chr7:121162512-121162513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374660950	chr7:121162514-121162515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201613553	chr7:121162525-121162526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62475780	chr7:121162527-121162528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563144947	chr7:121162529-121162530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369649732	chr7:121162540-121162541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200661511	chr7:121162541-121162542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72036291	chr7:121162542-121162543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs60236071	chr7:121162543-121162544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55961736	chr7:121162544-121162545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531821129	chr7:121162545-121162546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376128581	chr7:121162560-121162561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs3068179	chr7:121162562-121162563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199564241	chr7:121162563-121162564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7790979	chr7:121162564-121162565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201898415	chr7:121162576-121162577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7809941	chr7:121162578-121162579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536448234	chr7:121162580-121162581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58992699	chr7:121162593-121162594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144819304	chr7:121162596-121162597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548617071	chr7:121162598-121162599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568481827	chr7:121162618-121162619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182269470	chr7:121162668-121162669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547420040	chr7:121162701-121162702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566404726	chr7:121162726-121162727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117210930	chr7:121162727-121162728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558465372	chr7:121162746-121162747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568996722	chr7:121162752-121162753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7456918	chr7:121162765-121162766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533384378	chr7:121162768-121162769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554623877	chr7:121162780-121162781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute monocytic leukemia	16498392	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:213 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121160400-121162400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:121160400-121162400	Enhancers	Rectal Smooth Muscle	rectum
3	chr7:121160800-121165000	Weak transcription	Osteobl	bone
4	chr7:121160800-121165200	Weak transcription	Adipose Nuclei	Adipose
5	chr7:121161000-121162400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:121161200-121165000	Weak transcription	NHDF-Ad	bronchial
7	chr7:121161400-121162400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:121161600-121162200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:121161600-121162200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr7:121161600-121162400	Enhancers	HUVEC	blood vessel
11	chr7:121161600-121162800	Enhancers	Fetal Brain Male	brain
12	chr7:121161800-121162200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:121161800-121162400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:121161800-121162400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:121161800-121162400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr7:121162200-121164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:121162400-121163600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:121162400-121164400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:121162400-121165200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:121162400-121165200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:121162400-121168600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:121162800-121170400	Weak transcription	Fetal Brain Male	brain
23	chr7:121163600-121165200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:121164400-121165400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:121164800-121165400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:121164800-121165400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:121165000-121165800	Enhancers	NHDF-Ad	bronchial
28	chr7:121165000-121166200	Enhancers	Osteobl	bone
29	chr7:121165200-121165400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:121165200-121165600	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr7:121165200-121165600	Enhancers	Colonic Mucosa	Colon
32	chr7:121165200-121165800	Active TSS	Colon Smooth Muscle	Colon
33	chr7:121165200-121165800	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr7:121165400-121165600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:121165400-121165600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:121165400-121165800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:121165400-121165800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:121165400-121165800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:121165400-121166000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:121165600-121165800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:121165600-121170000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:121165800-121166000	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr7:121165800-121166200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:121165800-121166200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:121165800-121166200	Enhancers	Rectal Smooth Muscle	rectum
46	chr7:121165800-121168800	Weak transcription	NHDF-Ad	bronchial
47	chr7:121165800-121169000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:121165800-121170000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:121166000-121166200	Enhancers	Colon Smooth Muscle	Colon
50	chr7:121166000-121167000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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