Variant report

Variant	esv1801382
Chromosome Location	chr7:112167436-112205264
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112188001..112190741-chr7:112193794..112196488,2	K562	blood:
2	chr7:112190456..112191281-chr7:112538487..112539375,8	MCF-7	breast:
3	chr7:112168112..112170674-chr7:112174103..112178389,4	K562	blood:
4	chr7:112186668..112189403-chr7:112196363..112199344,2	MCF-7	breast:
5	chr7:112204602..112207127-chr7:112213169..112215760,2	K562	blood:
6	chr7:112190093..112191109-chr7:112508990..112509753,4	MCF-7	breast:
7	chr7:112061949..112064669-chr7:112169825..112172033,2	K562	blood:
8	chr7:112190224..112190771-chr7:112538559..112539340,3	K562	blood:
9	chr7:112198180..112200340-chr7:112211770..112213507,2	K562	blood:
10	chr7:111392109..111392933-chr7:112186478..112187415,3	K562	blood:
11	chr7:112190230..112191165-chr7:112508564..112509921,10	K562	blood:
12	chr7:112186668..112189403-chr7:112196363..112199344,2	MCF-7	breast:
13	chr7:112186789..112189212-chr7:112536212..112538987,2	K562	blood:
14	chr7:112168112..112170674-chr7:112174103..112178389,4	K562	blood:
15	chr7:111721035..111722609-chr7:112204033..112205588,2	MCF-7	breast:
16	chr7:112190294..112191278-chr7:112753982..112754649,4	MCF-7	breast:
17	chr7:112194401..112194965-chr7:112509215..112509795,2	MCF-7	breast:
18	chr7:112188001..112190741-chr7:112193794..112196488,2	K562	blood:
19	chr7:112190294..112191180-chr7:113061506..113062330,4	MCF-7	breast:
20	chr7:112190169..112191177-chr7:112538380..112539293,3	MCF-7	breast:
21	chr7:112190039..112191145-chr7:113350058..113351102,4	MCF-7	breast:
22	chr7:112189971..112191181-chr7:112508937..112509930,9	MCF-7	breast:
23	chr7:112190261..112191145-chr7:113061834..113062368,2	K562	blood:
24	chr7:112192318..112194572-chr7:112430024..112431816,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions
ENSG00000146802	chromatin interactions

Extended variants
information (count: 709 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:709 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370257509	chr7:112168064-112168065	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs183299734	chr7:112168130-112168131	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564232425	chr7:112168266-112168267	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs528498934	chr7:112168294-112168295	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs571179092	chr7:112168301-112168302	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs531190462	chr7:112168324-112168325	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549787640	chr7:112168332-112168333	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs76171283	chr7:112168386-112168387	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs146502643	chr7:112169405-112169406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572465652	chr7:112169410-112169411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538854825	chr7:112169488-112169489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557482964	chr7:112169492-112169493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575757805	chr7:112169493-112169494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3128426	chr7:112169507-112169508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs149124869	chr7:112169541-112169542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112809787	chr7:112169659-112169660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573658488	chr7:112169732-112169733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77986349	chr7:112169755-112169756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559678089	chr7:112169847-112169848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183959908	chr7:112169892-112169893	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551392564	chr7:112169903-112169904	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs563457911	chr7:112169908-112169909	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs3095041	chr7:112169920-112169921	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs186750771	chr7:112169921-112169922	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549433617	chr7:112170016-112170017	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567453673	chr7:112170019-112170020	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192163231	chr7:112170114-112170115	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3095042	chr7:112170119-112170120	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184885720	chr7:112170132-112170133	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539279524	chr7:112170206-112170207	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369384209	chr7:112170213-112170214	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557384858	chr7:112170270-112170271	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs151205395	chr7:112170296-112170297	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189446642	chr7:112170309-112170310	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555488059	chr7:112170337-112170338	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs13243609	chr7:112170388-112170389	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13230823	chr7:112170396-112170397	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs62475893	chr7:112170401-112170402	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs13243505	chr7:112170402-112170403	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34014045	chr7:112170422-112170423	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35186350	chr7:112170448-112170449	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs563289441	chr7:112170456-112170457	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73430781	chr7:112170524-112170525	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140176685	chr7:112170535-112170536	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs202096569	chr7:112170559-112170560	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs150313734	chr7:112170578-112170579	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368223898	chr7:112170608-112170609	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs545256318	chr7:112170611-112170612	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56010499	chr7:112170620-112170621	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530714341	chr7:112170660-112170661	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112168000-112168400	Active TSS	Hela-S3	cervix
2	chr7:112169400-112169800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:112169400-112169800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:112169400-112169800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:112169600-112170000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:112169600-112171000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:112170600-112171000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:112171000-112171800	Enhancers	Fetal Heart	heart
9	chr7:112171800-112176600	Weak transcription	Fetal Heart	heart
10	chr7:112176600-112177800	Enhancers	Fetal Heart	heart
11	chr7:112176800-112178000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:112178600-112179400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:112178800-112179400	Flanking Active TSS	K562	blood
14	chr7:112179000-112179400	Enhancers	Right Ventricle	heart
15	chr7:112179400-112180400	Enhancers	K562	blood
16	chr7:112184200-112187200	Weak transcription	K562	blood
17	chr7:112186800-112187400	Active TSS	HepG2	liver
18	chr7:112186800-112187600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:112187200-112187400	Flanking Active TSS	K562	blood
20	chr7:112187400-112187600	Flanking Bivalent TSS/Enh	K562	blood
21	chr7:112187600-112187800	Bivalent/Poised TSS	K562	blood
22	chr7:112187600-112188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:112188000-112188200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr7:112188000-112188400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:112188000-112188400	Enhancers	HMEC	breast
26	chr7:112188000-112189200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:112189000-112189200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr7:112189200-112190600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr7:112190600-112190800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:112196200-112196800	Enhancers	HMEC	breast
31	chr7:112196200-112197000	Enhancers	Primary T cells from cord blood	blood
32	chr7:112196200-112197000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr7:112196400-112196800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:112196400-112197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:112196400-112197000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:112196400-112197000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr7:112196400-112197000	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr7:112196400-112197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:112196400-112197600	Enhancers	Fetal Thymus	thymus
40	chr7:112196600-112196800	Enhancers	Thymus	Thymus
41	chr7:112196600-112197000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:112196600-112197800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr7:112196800-112197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:112197000-112197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:112197400-112198200	Enhancers	Fetal Intestine Small	intestine
46	chr7:112197400-112198600	Enhancers	Fetal Heart	heart
47	chr7:112197400-112198800	Enhancers	Duodenum Mucosa	Duodenum
48	chr7:112197400-112199000	Enhancers	Fetal Intestine Large	intestine
49	chr7:112197600-112197800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:112197600-112198000	Enhancers	Rectal Mucosa Donor 31	rectum

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