Variant report

Variant	nsv608073
Chromosome Location	chr7:106960515-107063686
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:62)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:107007151..107009459-chr7:107010024..107012245,2	MCF-7	breast:
2	chr7:106992860..106994930-chr7:106997607..106999278,2	K562	blood:
3	chr7:106994327..106996140-chr7:107383081..107384626,2	K562	blood:
4	chr7:107028942..107031560-chr7:107035315..107037970,2	K562	blood:
5	chr7:106841996..106842939-chr7:107024449..107025071,3	K562	blood:
6	chr7:106956489..106959227-chr7:106962952..106965707,2	K562	blood:
7	chr7:107053101..107055652-chr7:107062376..107064538,2	MCF-7	breast:
8	chr7:107028832..107031343-chr7:107040256..107041965,2	K562	blood:
9	chr7:106961525..106963597-chr7:106973933..106975827,2	K562	blood:
10	chr7:107054165..107055785-chr7:107061718..107063392,2	K562	blood:
11	chr7:107042056..107044075-chr7:107048262..107050371,2	K562	blood:
12	chr7:107008875..107010473-chr7:107014803..107016730,2	MCF-7	breast:
13	chr7:107047504..107049662-chr7:107051797..107053536,2	MCF-7	breast:
14	chr7:106998806..107000334-chr7:107005300..107008235,2	K562	blood:
15	chr7:107056625..107059489-chr7:107062742..107066845,4	K562	blood:
16	chr7:107057400..107059013-chr7:107061554..107063090,2	MCF-7	breast:
17	chr7:107045595..107047319-chr7:107047624..107049995,2	MCF-7	breast:
18	chr7:107047504..107049662-chr7:107051797..107053536,2	MCF-7	breast:
19	chr7:107028832..107031343-chr7:107040256..107041965,2	K562	blood:
20	chr7:107016559..107018564-chr7:107020036..107021972,2	K562	blood:
21	chr7:107040494..107042085-chr7:107043869..107046355,2	K562	blood:
22	chr7:107035697..107039841-chr7:107039947..107042862,4	K562	blood:
23	chr7:106971145..106972737-chr7:106976544..106979052,2	K562	blood:
24	chr7:107056625..107059489-chr7:107062742..107066845,4	K562	blood:
25	chr7:107038136..107039966-chr7:107054259..107057095,2	K562	blood:
26	chr7:107057400..107059013-chr7:107061554..107063090,2	MCF-7	breast:
27	chr7:107027220..107028831-chr7:107032404..107035234,2	MCF-7	breast:
28	chr7:106970491..106972869-chr7:107219576..107221867,2	K562	blood:
29	chr7:106961529..106964322-chr7:106967286..106969231,2	K562	blood:
30	chr7:106961525..106963597-chr7:106973933..106975827,2	K562	blood:
31	chr7:107026679..107030350-chr7:107031871..107033708,4	K562	blood:
32	chr7:106961529..106964322-chr7:106967286..106969231,2	K562	blood:
33	chr7:107007151..107009459-chr7:107010024..107012245,2	MCF-7	breast:
34	chr7:107055009..107056631-chr7:107059832..107062299,2	MCF-7	breast:
35	chr7:107026679..107030350-chr7:107031871..107033708,4	K562	blood:
36	chr7:107027220..107028831-chr7:107032404..107035234,2	MCF-7	breast:
37	chr7:106849189..106851803-chr7:106991183..106993127,2	K562	blood:
38	chr7:107061830..107063741-chr7:107065312..107067099,2	K562	blood:
39	chr7:107055009..107056631-chr7:107059832..107062299,2	MCF-7	breast:
40	chr7:106976280..106978991-chr7:107200279..107202839,2	K562	blood:
41	chr7:107054165..107055785-chr7:107061718..107063392,2	K562	blood:
42	chr7:107028942..107031560-chr7:107035315..107037970,2	K562	blood:
43	chr7:106992860..106994930-chr7:106997607..106999278,2	K562	blood:
44	chr7:106971145..106972737-chr7:106976544..106979052,2	K562	blood:
45	chr7:106951124..106952783-chr7:106959596..106961656,2	MCF-7	breast:
46	chr7:106978639..106980974-chr7:106982232..106983801,2	K562	blood:
47	chr7:106959037..106960658-chr7:107219489..107223407,3	K562	blood:
48	chr7:107008875..107010473-chr7:107014803..107016730,2	MCF-7	breast:
49	chr7:107042878..107044924-chr7:107048140..107050111,2	MCF-7	breast:
50	chr7:107035697..107039841-chr7:107039947..107042862,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075790	chromatin interactions
ENSG00000105879	chromatin interactions
ENSG00000272854	chromatin interactions
ENSG00000241764	chromatin interactions

Extended variants
information (count: 4040 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4040 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2249043	chr7:106960515-106960516	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs532657130	chr7:106960528-106960529	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181452953	chr7:106960588-106960589	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77079363	chr7:106960625-106960626	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373826919	chr7:106960642-106960643	Enhancers Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564436883	chr7:106960664-106960665	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561366401	chr7:106960674-106960675	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528685341	chr7:106960779-106960780	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546935037	chr7:106960803-106960804	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568542320	chr7:106960822-106960823	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149698762	chr7:106960865-106960866	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557381901	chr7:106960893-106960894	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577176689	chr7:106960933-106960934	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538509758	chr7:106960936-106960937	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558830014	chr7:106960948-106960949	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114015192	chr7:106960966-106960967	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186162551	chr7:106961032-106961033	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560797222	chr7:106961038-106961039	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189898422	chr7:106961131-106961132	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3801958	chr7:106961139-106961140	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs144761891	chr7:106961211-106961212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs150793883	chr7:106961283-106961284	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532158714	chr7:106961389-106961390	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552557901	chr7:106961468-106961469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs148562471	chr7:106961481-106961482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528820529	chr7:106961545-106961546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs57815418	chr7:106961560-106961561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs568709776	chr7:106961635-106961636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537501380	chr7:106961659-106961660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551056629	chr7:106961660-106961661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142970662	chr7:106961661-106961662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147758180	chr7:106961679-106961680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531427319	chr7:106961683-106961684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182168275	chr7:106961699-106961700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187888504	chr7:106961718-106961719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569360812	chr7:106961723-106961724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554304716	chr7:106961794-106961795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574297617	chr7:106961825-106961826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543089039	chr7:106961871-106961872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11762802	chr7:106961882-106961883	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs576896196	chr7:106961923-106961924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545759372	chr7:106961998-106961999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559129618	chr7:106962006-106962007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528783850	chr7:106962016-106962017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542548101	chr7:106962018-106962019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375160462	chr7:106962039-106962040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs562822882	chr7:106962066-106962067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548401652	chr7:106962067-106962068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562216040	chr7:106962110-106962111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566500858	chr7:106962174-106962175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	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
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1261 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106886400-106971400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr7:106888800-106999400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:106909000-106968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr7:106911000-106964200	Weak transcription	Duodenum Mucosa	Duodenum
5	chr7:106918600-106963800	Weak transcription	HSMM	muscle
6	chr7:106923000-106965800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:106923800-106999400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:106928000-106972600	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:106931400-106962800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:106932200-106967400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:106934200-106967400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:106934200-106968600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:106934200-106971600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:106934200-106973000	Weak transcription	Adipose Nuclei	Adipose
15	chr7:106934400-106967200	Weak transcription	Fetal Stomach	stomach
16	chr7:106934400-106971400	Weak transcription	Ovary	ovary
17	chr7:106934800-106962400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:106935200-106962400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr7:106935400-106964000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:106939000-106962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:106943000-106973000	Weak transcription	Thymus	Thymus
22	chr7:106945800-106973000	Weak transcription	Right Ventricle	heart
23	chr7:106946200-106967200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:106946200-106999800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:106946400-106960800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:106946400-106962400	Weak transcription	Liver	Liver
27	chr7:106946400-106962600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:106946400-106968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr7:106946400-106968000	Weak transcription	NHEK	skin
30	chr7:106946400-106968200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:106946400-106971400	Weak transcription	Esophagus	oesophagus
32	chr7:106946400-106973000	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr7:106946400-106978400	Weak transcription	Fetal Intestine Large	intestine
34	chr7:106946400-106983600	Weak transcription	Aorta	Aorta
35	chr7:106946400-106983600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:106946400-106999400	Weak transcription	Pancreas	Pancrea
37	chr7:106948000-106960800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:106948200-106962600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:106948600-106973400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:106952400-106973600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr7:106953200-106960800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:106953600-106962200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:106953600-106962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:106953800-106999400	Weak transcription	Left Ventricle	heart
45	chr7:106954200-106967800	Weak transcription	Primary T cells from cord blood	blood
46	chr7:106954200-106968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:106954400-106971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:106954600-106973000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr7:106955400-106973000	Weak transcription	Lung	lung
50	chr7:106956600-106967400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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