Variant report

Variant	nsv889061
Chromosome Location	chr7:112871926-112987650
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:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
2	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
3	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
4	chr7:112089237..112091482-chr7:112936057..112938859,2	MCF-7	breast:
5	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
6	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
7	chr7:112758684..112760391-chr7:112965987..112967563,2	K562	blood:
8	chr7:112884087..112886574-chr7:112895452..112897129,2	MCF-7	breast:
9	chr7:112882709..112884579-chr7:112885752..112887740,2	K562	blood:
10	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:
11	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
12	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
13	chr7:112815177..112817865-chr7:112886760..112888811,2	MCF-7	breast:
14	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
15	chr7:112965647..112967560-chr7:112969669..112971397,2	K562	blood:
16	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
17	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
18	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
19	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
20	chr7:112986796..112990552-chr7:112993911..112996520,3	MCF-7	breast:
21	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
22	chr7:112799513..112800054-chr7:112929337..112929871,2	MCF-7	breast:
23	chr7:112955793..112957716-chr7:112966619..112968256,2	K562	blood:
24	chr7:112884087..112886574-chr7:112895452..112897129,2	MCF-7	breast:
25	chr7:112950198..112952565-chr7:112958215..112960663,2	MCF-7	breast:
26	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
27	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
28	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
29	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
30	chr7:112953049..112955491-chr7:112958920..112960893,2	K562	blood:
31	chr7:112955793..112957716-chr7:112966619..112968256,2	K562	blood:
32	chr7:112878168..112880923-chr7:112882880..112884449,2	K562	blood:
33	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
34	chr7:112811150..112812144-chr7:112920712..112921503,2	MCF-7	breast:
35	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
36	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:
37	chr7:112809313..112813953-chr7:112918870..112922668,5	MCF-7	breast:
38	chr7:112757111..112758761-chr7:112957701..112959232,2	K562	blood:
39	chr7:112878168..112880923-chr7:112882880..112884449,2	K562	blood:
40	chr7:112655256..112655797-chr7:112929374..112930128,2	MCF-7	breast:
41	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
42	chr7:112953049..112955491-chr7:112958920..112960893,2	K562	blood:
43	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
44	chr7:112882709..112884579-chr7:112885752..112887740,2	K562	blood:
45	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
46	chr7:112965647..112967560-chr7:112969669..112971397,2	K562	blood:
47	chr7:112950198..112952565-chr7:112958215..112960663,2	MCF-7	breast:
48	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
49	chr7:112682248..112683838-chr7:112894672..112896979,2	K562	blood:
50	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214194	chromatin interactions
ENSG00000006652	chromatin interactions

Extended variants
information (count: 1676 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1676 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188699182	chr7:112872048-112872049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541002657	chr7:112872080-112872081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191490979	chr7:112872099-112872100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533039302	chr7:112872140-112872141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551550694	chr7:112872169-112872170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183981762	chr7:112872192-112872193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs531142507	chr7:112872226-112872227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77289285	chr7:112872281-112872282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567923903	chr7:112872306-112872307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535040978	chr7:112872325-112872326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546963134	chr7:112872342-112872343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376303972	chr7:112872416-112872417	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs150642340	chr7:112872500-112872501	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs557046123	chr7:112872511-112872512	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575799050	chr7:112872529-112872530	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs139679217	chr7:112872554-112872555	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188709559	chr7:112872561-112872562	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs373635144	chr7:112872568-112872569	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs573866609	chr7:112872638-112872639	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs368936232	chr7:112872656-112872657	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs577307942	chr7:112872677-112872678	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs559301100	chr7:112872687-112872688	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs577572302	chr7:112872691-112872692	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141975055	chr7:112872697-112872698	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146025997	chr7:112872701-112872702	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530649293	chr7:112872713-112872714	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs549580550	chr7:112872728-112872729	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs75559657	chr7:112872730-112872731	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113819657	chr7:112872751-112872752	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371741638	chr7:112872776-112872777	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs200913819	chr7:112872783-112872784	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs79083151	chr7:112872797-112872798	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546980171	chr7:112872854-112872855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6976716	chr7:112872869-112872870	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180779486	chr7:112872885-112872886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550634582	chr7:112872900-112872901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs139986962	chr7:112872905-112872906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369022328	chr7:112872914-112872915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184586412	chr7:112872916-112872917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200968297	chr7:112872925-112872926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573803457	chr7:112872933-112872934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190273451	chr7:112872969-112872970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs6957003	chr7:112873006-112873007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs182447385	chr7:112873030-112873031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186562837	chr7:112873042-112873043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6956889	chr7:112873045-112873046	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190643778	chr7:112873050-112873051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113643658	chr7:112873133-112873134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143373453	chr7:112873146-112873147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561484930	chr7:112873219-112873220	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112872000-112872400	Enhancers	Fetal Heart	heart
2	chr7:112872400-112872800	Flanking Active TSS	Fetal Heart	heart
3	chr7:112872800-112873800	Enhancers	Fetal Heart	heart
4	chr7:112876800-112878200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:112877200-112877600	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:112880000-112880200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
7	chr7:112880000-112880400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:112880200-112880400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr7:112881400-112881600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:112881600-112881800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:112886200-112886400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:112886400-112887400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:112887000-112887400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:112887400-112888200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:112888200-112889200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:112889200-112889400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:112896600-112897200	Enhancers	Dnd41	blood
18	chr7:112897000-112897200	Active TSS	Osteobl	bone
19	chr7:112897200-112897400	Flanking Active TSS	Osteobl	bone
20	chr7:112897200-112897600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:112897200-112897600	Flanking Active TSS	Dnd41	blood
22	chr7:112902200-112905000	Weak transcription	Right Atrium	heart
23	chr7:112903200-112904200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr7:112903200-112904200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr7:112903200-112904600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr7:112903600-112904800	Active TSS	K562	blood
27	chr7:112903800-112904400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:112906800-112907000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:112907000-112908400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:112907200-112908000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:112907600-112908000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:112907600-112908000	Enhancers	Osteobl	bone
33	chr7:112907800-112909600	ZNF genes & repeats	K562	blood
34	chr7:112908400-112909400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:112910800-112912400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:112917600-112917800	Enhancers	Fetal Heart	heart
37	chr7:112917800-112918600	Weak transcription	Fetal Heart	heart
38	chr7:112918600-112921400	Enhancers	Fetal Heart	heart
39	chr7:112918800-112919400	Enhancers	Colon Smooth Muscle	Colon
40	chr7:112919000-112919600	Enhancers	Rectal Smooth Muscle	rectum
41	chr7:112919200-112919600	Enhancers	Fetal Brain Male	brain
42	chr7:112919200-112919600	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:112919600-112923200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:112921400-112923400	Weak transcription	Fetal Heart	heart
45	chr7:112923200-112923600	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:112923400-112924200	Enhancers	Fetal Heart	heart
47	chr7:112923600-112924400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:112923600-112926600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr7:112923800-112924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:112924200-112924400	Enhancers	Osteobl	bone

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