Variant report

Variant	nsv967438
Chromosome Location	chr7:108105134-108108283
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:108092926..108094617-chr7:108105069..108107356,2	K562	blood:
2	chr7:108103332..108105675-chr7:108106936..108109038,2	MCF-7	breast:
3	chr7:108101662..108103769-chr7:108105980..108107741,2	MCF-7	breast:
4	chr7:108096789..108098872-chr7:108105981..108108747,4	MCF-7	breast:
5	chr7:108103332..108105675-chr7:108106936..108109038,2	MCF-7	breast:
6	chr7:107819408..107821670-chr7:108103371..108105401,2	K562	blood:
7	chr7:108092671..108095154-chr7:108102924..108105484,2	MCF-7	breast:
8	chr7:108102620..108104801-chr7:108107037..108108765,2	K562	blood:
9	chr7:108094678..108098834-chr7:108103652..108107753,7	MCF-7	breast:
10	chr7:107992642..107995000-chr7:108106224..108108684,2	MCF-7	breast:
11	chr7:108102855..108105698-chr7:108109300..108111309,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091129	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147001735	chr7:108105135-108105136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191809610	chr7:108105141-108105142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539274973	chr7:108105143-108105144	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs137919605	chr7:108105156-108105157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541772149	chr7:108105162-108105163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79782705	chr7:108105211-108105212	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541682046	chr7:108105237-108105238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs41385644	chr7:108105243-108105244	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs143372490	chr7:108105291-108105292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs543123780	chr7:108105303-108105304	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10225561	chr7:108105345-108105346	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs185075888	chr7:108105368-108105369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367946368	chr7:108105400-108105401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs33987381	chr7:108105424-108105425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs559481686	chr7:108105459-108105460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528389262	chr7:108105520-108105521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs548434645	chr7:108105527-108105528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs207468388	chr7:108105568-108105569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs12530879	chr7:108105632-108105633	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs12538539	chr7:108105771-108105772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs371802329	chr7:108105817-108105818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs188344641	chr7:108105859-108105860	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs41347845	chr7:108105883-108105884	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs560777069	chr7:108105904-108105905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs193189297	chr7:108105939-108105940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs75932684	chr7:108105943-108105944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs199521591	chr7:108106014-108106015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541529042	chr7:108106065-108106066	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs150506621	chr7:108106120-108106121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs546742839	chr7:108106146-108106147	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs535011147	chr7:108106183-108106184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs555203574	chr7:108106316-108106317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556371231	chr7:108106317-108106318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371336180	chr7:108106400-108106401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs115602397	chr7:108106449-108106450	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs556515816	chr7:108106452-108106453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117865782	chr7:108106488-108106489	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542553836	chr7:108106498-108106499	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374788511	chr7:108106505-108106506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545456588	chr7:108106548-108106549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs145547984	chr7:108106558-108106559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200016703	chr7:108106569-108106570	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs367940913	chr7:108106578-108106579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139533541	chr7:108106586-108106587	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565057532	chr7:108106587-108106588	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112081082	chr7:108106593-108106594	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112140486	chr7:108106624-108106625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11357126	chr7:108106629-108106630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs34689943	chr7:108106633-108106634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541653251	chr7:108106647-108106648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Melanoma	17363583	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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108097200-108118000	Weak transcription	Aorta	Aorta
2	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:108100400-108106600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:108100800-108108800	Weak transcription	HUVEC	blood vessel
5	chr7:108101000-108119200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:108101400-108116800	Weak transcription	Osteobl	bone
7	chr7:108101800-108108400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:108102200-108106800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:108102400-108129600	Weak transcription	Pancreas	Pancrea
10	chr7:108102400-108137000	Weak transcription	NH-A	brain
11	chr7:108102400-108143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:108102600-108116000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:108102600-108118200	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:108102800-108107000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:108102800-108111000	Weak transcription	HSMM	muscle
16	chr7:108102800-108111200	Weak transcription	Adipose Nuclei	Adipose
17	chr7:108102800-108126400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
19	chr7:108103000-108111200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:108103200-108105600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr7:108103200-108115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:108103400-108105800	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:108103600-108105800	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:108103800-108105600	Enhancers	Thymus	Thymus
25	chr7:108104200-108111200	Weak transcription	Left Ventricle	heart
26	chr7:108104400-108106000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr7:108104400-108106400	Enhancers	Primary T cells from cord blood	blood
28	chr7:108104400-108116400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr7:108104800-108117400	Weak transcription	Dnd41	blood
30	chr7:108105000-108106200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:108105000-108116000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr7:108105400-108105800	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr7:108105600-108117800	Weak transcription	Thymus	Thymus
34	chr7:108105800-108106200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:108105800-108111000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr7:108106000-108116800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:108106200-108106400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr7:108106200-108108600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:108106200-108150800	Weak transcription	NHLF	lung
41	chr7:108106400-108113000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:108106400-108117200	Weak transcription	Primary T cells from cord blood	blood
43	chr7:108106600-108127600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:108106800-108130000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:108107600-108109200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:108107600-108141000	Weak transcription	Spleen	Spleen
47	chr7:108108000-108108600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:108108200-108111400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:108108200-108111600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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