Variant report

Variant	nsv870274
Chromosome Location	chr7:112907188-112955886
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:112809313..112813953-chr7:112918870..112922668,5	MCF-7	breast:
2	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
3	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
4	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
5	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
6	chr7:112950198..112952565-chr7:112958215..112960663,2	MCF-7	breast:
7	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
8	chr7:112887063..112887777-chr7:112921303..112922004,3	MCF-7	breast:
9	chr7:112949710..112952424-chr7:112954209..112957100,2	K562	blood:
10	chr7:112953049..112955491-chr7:112958920..112960893,2	K562	blood:
11	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
12	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:
13	chr7:112940051..112941689-chr7:112965313..112967695,2	K562	blood:
14	chr7:112811150..112812144-chr7:112920712..112921503,2	MCF-7	breast:
15	chr6:73399794..73402765-chr7:112924925..112927140,2	MCF-7	breast:
16	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
17	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
18	chr7:112914755..112918139-chr7:112919654..112923102,3	K562	blood:
19	chr7:112799513..112800054-chr7:112929337..112929871,2	MCF-7	breast:
20	chr7:112911185..112912742-chr7:112915427..112918300,2	K562	blood:
21	chr7:112811148..112812106-chr7:112921056..112921827,2	MCF-7	breast:
22	chr7:112655256..112655797-chr7:112929374..112930128,2	MCF-7	breast:
23	chr7:112919908..112922049-chr7:112922331..112926205,3	MCF-7	breast:
24	chr7:112902968..112904639-chr7:112919791..112922267,2	MCF-7	breast:
25	chr7:112919539..112924993-chr7:112925229..112928766,5	MCF-7	breast:
26	chr7:112906062..112908406-chr7:112913079..112914696,2	K562	blood:
27	chr7:112955793..112957716-chr7:112966619..112968256,2	K562	blood:
28	chr7:112906005..112908006-chr7:112910862..112913062,2	K562	blood:
29	chr7:112089237..112091482-chr7:112936057..112938859,2	MCF-7	breast:
30	chr7:112919737..112922659-chr7:112922848..112924621,2	MCF-7	breast:
31	chr7:112903603..112905709-chr7:112919936..112922248,2	K562	blood:
32	chr7:112934260..112936230-chr7:112936620..112938273,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006652	chromatin interactions

Extended variants
information (count: 919 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543788699	chr7:112907195-112907196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189079848	chr7:112907239-112907240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544550188	chr7:112907295-112907296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529323764	chr7:112907345-112907346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541101719	chr7:112907361-112907362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368084743	chr7:112907378-112907379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116333479	chr7:112907415-112907416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527445335	chr7:112907428-112907429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552091643	chr7:112907446-112907447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199706696	chr7:112907466-112907467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200836102	chr7:112907467-112907468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397687949	chr7:112907474-112907475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199799280	chr7:112907475-112907476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564404014	chr7:112907556-112907557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531549754	chr7:112907557-112907558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116856716	chr7:112907584-112907585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530045878	chr7:112907600-112907601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35649392	chr7:112907635-112907636	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76365758	chr7:112907642-112907643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562193238	chr7:112907644-112907645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540353746	chr7:112907649-112907650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540034431	chr7:112907660-112907661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558106188	chr7:112907683-112907684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576656534	chr7:112907762-112907763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537369921	chr7:112907845-112907846	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560231450	chr7:112907928-112907929	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs556044189	chr7:112907929-112907930	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs573667357	chr7:112907964-112907965	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs151008805	chr7:112907997-112907998	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559376332	chr7:112908032-112908033	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577764331	chr7:112908052-112908053	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs545969454	chr7:112908053-112908054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs116108067	chr7:112908068-112908069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531612937	chr7:112908069-112908070	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs549780595	chr7:112908134-112908135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs561972139	chr7:112908141-112908142	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75965968	chr7:112908195-112908196	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547461884	chr7:112908206-112908207	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565770910	chr7:112908226-112908227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140903305	chr7:112908246-112908247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs7789056	chr7:112908269-112908270	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546089242	chr7:112908372-112908373	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570119232	chr7:112908398-112908399	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs537669588	chr7:112908469-112908470	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs181733378	chr7:112908475-112908476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs574001462	chr7:112908493-112908494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534696991	chr7:112908603-112908604	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552990504	chr7:112908611-112908612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577700795	chr7:112908634-112908635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs186455226	chr7:112908655-112908656	ZNF genes & repeats	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112907000-112908400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:112907200-112908000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr7:112907600-112908000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:112907600-112908000	Enhancers	Osteobl	bone
5	chr7:112907800-112909600	ZNF genes & repeats	K562	blood
6	chr7:112908400-112909400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:112910800-112912400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:112917600-112917800	Enhancers	Fetal Heart	heart
9	chr7:112917800-112918600	Weak transcription	Fetal Heart	heart
10	chr7:112918600-112921400	Enhancers	Fetal Heart	heart
11	chr7:112918800-112919400	Enhancers	Colon Smooth Muscle	Colon
12	chr7:112919000-112919600	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:112919200-112919600	Enhancers	Fetal Brain Male	brain
14	chr7:112919200-112919600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr7:112919600-112923200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr7:112921400-112923400	Weak transcription	Fetal Heart	heart
17	chr7:112923200-112923600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr7:112923400-112924200	Enhancers	Fetal Heart	heart
19	chr7:112923600-112924400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:112923600-112926600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr7:112923800-112924200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:112924200-112924400	Enhancers	Osteobl	bone
23	chr7:112924200-112924600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr7:112924200-112924800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:112924400-112925400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:112924400-112925400	Weak transcription	Osteobl	bone
27	chr7:112924600-112926000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:112924800-112925200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:112925200-112926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:112925400-112926000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr7:112925400-112926200	Enhancers	Osteobl	bone
32	chr7:112929400-112929600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:112931200-112931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:112931200-112932000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:112931400-112931600	Enhancers	Esophagus	oesophagus
36	chr7:112931800-112932000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:112932000-112932400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:112932200-112932400	Enhancers	Esophagus	oesophagus
39	chr7:112932200-112932600	Enhancers	Adipose Nuclei	Adipose
40	chr7:112932200-112932800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:112932400-112932600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:112932600-112934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:112934400-112935200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:112935000-112935600	ZNF genes & repeats	Esophagus	oesophagus
45	chr7:112946200-112946800	Active TSS	K562	blood
46	chr7:112946800-112947400	Weak transcription	K562	blood
47	chr7:112947400-112948200	Enhancers	K562	blood
48	chr7:112948400-112948800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:112951800-112952000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:112952000-112952400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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