Variant report

Variant	nsv971209
Chromosome Location	chr7:112189312-112201673
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112190039..112191145-chr7:113350058..113351102,4	MCF-7	breast:
2	chr7:112190224..112190771-chr7:112538559..112539340,3	K562	blood:
3	chr7:112188001..112190741-chr7:112193794..112196488,2	K562	blood:
4	chr7:112192318..112194572-chr7:112430024..112431816,2	K562	blood:
5	chr7:112198180..112200340-chr7:112211770..112213507,2	K562	blood:
6	chr7:112190456..112191281-chr7:112538487..112539375,8	MCF-7	breast:
7	chr7:112190230..112191165-chr7:112508564..112509921,10	K562	blood:
8	chr7:112190093..112191109-chr7:112508990..112509753,4	MCF-7	breast:
9	chr7:112189971..112191181-chr7:112508937..112509930,9	MCF-7	breast:
10	chr7:112190294..112191180-chr7:113061506..113062330,4	MCF-7	breast:
11	chr7:112186668..112189403-chr7:112196363..112199344,2	MCF-7	breast:
12	chr7:112188001..112190741-chr7:112193794..112196488,2	K562	blood:
13	chr7:112194401..112194965-chr7:112509215..112509795,2	MCF-7	breast:
14	chr7:112190169..112191177-chr7:112538380..112539293,3	MCF-7	breast:
15	chr7:112190294..112191278-chr7:112753982..112754649,4	MCF-7	breast:
16	chr7:112190261..112191145-chr7:113061834..113062368,2	K562	blood:
17	chr7:112186668..112189403-chr7:112196363..112199344,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146802	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 88 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527489412	chr7:112189327-112189328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs183511455	chr7:112189367-112189368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113253578	chr7:112189401-112189402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3128413	chr7:112189425-112189426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533940699	chr7:112189446-112189447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552713361	chr7:112189530-112189531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188900691	chr7:112189568-112189569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566084074	chr7:112189573-112189574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538338237	chr7:112189647-112189648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556634052	chr7:112189760-112189761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574722169	chr7:112189781-112189782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536171081	chr7:112189792-112189793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138933143	chr7:112189813-112189814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12530753	chr7:112189854-112189855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs3111459	chr7:112189900-112189901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs570047530	chr7:112189922-112189923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372275974	chr7:112189929-112189930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564337894	chr7:112189988-112189989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535548623	chr7:112189989-112189990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192517270	chr7:112189998-112189999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183953780	chr7:112190002-112190003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562531076	chr7:112190003-112190004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529628072	chr7:112190008-112190009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114965163	chr7:112190020-112190021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560146880	chr7:112190095-112190096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34339253	chr7:112190105-112190106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397813680	chr7:112190129-112190130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200095707	chr7:112190135-112190136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142803847	chr7:112190148-112190149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113129984	chr7:112190164-112190165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552445406	chr7:112190171-112190172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56054823	chr7:112190239-112190240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566081737	chr7:112190300-112190301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372047871	chr7:112190301-112190302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560275238	chr7:112190347-112190348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538375042	chr7:112190408-112190409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534886328	chr7:112190470-112190471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76929965	chr7:112190487-112190488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369304319	chr7:112190512-112190513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191248561	chr7:112190563-112190564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184868075	chr7:112190597-112190598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6971255	chr7:112190619-112190620	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs554452564	chr7:112190668-112190669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572697483	chr7:112190722-112190723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs59613920	chr7:112192423-112192424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549628125	chr7:112192517-112192518	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs13233480	chr7:112192525-112192526	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs535180809	chr7:112192542-112192543	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs13233493	chr7:112192561-112192562	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs13233203	chr7:112192562-112192563	Inactive region	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112189200-112190600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:112190600-112190800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:112196200-112196800	Enhancers	HMEC	breast
4	chr7:112196200-112197000	Enhancers	Primary T cells from cord blood	blood
5	chr7:112196200-112197000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:112196400-112196800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr7:112196400-112197000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:112196400-112197000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:112196400-112197000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr7:112196400-112197000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr7:112196400-112197000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:112196400-112197600	Enhancers	Fetal Thymus	thymus
13	chr7:112196600-112196800	Enhancers	Thymus	Thymus
14	chr7:112196600-112197000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:112196600-112197800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr7:112196800-112197800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr7:112197000-112197600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:112197400-112198200	Enhancers	Fetal Intestine Small	intestine
19	chr7:112197400-112198600	Enhancers	Fetal Heart	heart
20	chr7:112197400-112198800	Enhancers	Duodenum Mucosa	Duodenum
21	chr7:112197400-112199000	Enhancers	Fetal Intestine Large	intestine
22	chr7:112197600-112197800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:112197600-112198000	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr7:112197600-112198200	Enhancers	Stomach Mucosa	stomach
25	chr7:112197800-112198000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:112198200-112198800	Weak transcription	Fetal Intestine Small	intestine
27	chr7:112198800-112199000	Enhancers	Fetal Intestine Small	intestine

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