Variant report

Variant	nsv889187
Chromosome Location	chr7:126219766-126478190
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:139)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:139 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:123389433..123391068-chr7:126340145..126342716,2	K562	blood:
2	7:126085913-126088095..7:126358358-126363704	GM12878	blood:
3	chr7:126400783..126403060-chr7:126405651..126408997,3	K562	blood:
4	chr7:126287875..126289715-chr7:126294505..126296060,2	K562	blood:
5	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:
6	chr7:126287875..126289715-chr7:126294505..126296060,2	K562	blood:
7	chr7:126307967..126309880-chr7:126404666..126406467,2	K562	blood:
8	chr7:126345298..126347848-chr7:126367419..126370072,2	K562	blood:
9	7:126085913-126088095..7:126303661-126307399	GM12878	blood:
10	7:126085913-126088095..7:126429477-126435211	GM12878	blood:
11	7:126312146-126318123..7:127225864-127233104	GM12878	blood:
12	chr7:126314710..126317465-chr7:126320415..126322546,2	K562	blood:
13	7:126441098-126445427..7:126746034-126750148	H1-hESC	embryonic stem cell:	embryo
14	7:126312146-126318123..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
15	chr7:126363919..126365530-chr7:126368922..126370814,2	K562	blood:
16	chr7:126477944..126479476-chr7:126481551..126483101,2	K562	blood:
17	chr7:126365451..126368313-chr7:126375080..126378772,3	K562	blood:
18	7:126264015-126265203..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
19	chr7:126359092..126361580-chr7:126364293..126366745,2	K562	blood:
20	7:126312146-126318123..7:127009457-127018926	GM12878	blood:
21	chr7:126306649..126309044-chr7:126341202..126342980,4	K562	blood:
22	7:126299213-126299975..7:127009457-127018926	GM12878	blood:
23	7:126477235-126483531..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
24	chr7:126354910..126357333-chr7:126363262..126365444,2	K562	blood:
25	chr7:126308425..126309973-chr7:126335993..126338773,2	K562	blood:
26	chr7:126313732..126316152-chr7:126338313..126341209,2	K562	blood:
27	7:126085913-126088095..7:126352172-126357573	GM12878	blood:
28	chr7:126238270..126240602-chr7:126244223..126245944,2	K562	blood:
29	7:126441098-126445427..7:126880504-126885902	H1-hESC	embryonic stem cell:	embryo
30	chr5:5431864..5432633-chr7:126274991..126275821,2	MCF-7	breast:
31	chr7:126443296..126443969-chr7:127154677..127155182,2	K562	blood:
32	7:126085913-126088095..7:126326554-126329028	GM12878	blood:
33	chr7:126354910..126358134-chr7:126363262..126365444,3	K562	blood:
34	7:126303661-126307399..7:127009457-127018926	K562	blood:
35	chr7:126389019..126391850-chr7:126393483..126396184,2	K562	blood:
36	chr7:126339634..126342831-chr7:127031641..127033557,3	K562	blood:
37	chr7:126308425..126309973-chr7:126335993..126338773,2	K562	blood:
38	7:126470017-126471969..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
39	chr7:126307967..126309880-chr7:126404666..126406467,2	K562	blood:
40	chr7:126318252..126320938-chr7:126337348..126339547,3	K562	blood:
41	chr7:126368803..126371577-chr7:126373352..126375062,2	K562	blood:
42	chr7:126340457..126344219-chr7:126344404..126348305,6	K562	blood:
43	chr7:126313732..126316152-chr7:126338313..126341209,2	K562	blood:
44	7:126477235-126483531..7:126746034-126750148	H1-hESC	embryonic stem cell:	embryo
45	chr7:126210096..126212275-chr7:126283884..126286217,2	K562	blood:
46	chr7:126296023..126300010-chr7:126305457..126308211,3	K562	blood:
47	chr7:126359674..126361280-chr7:126368196..126369937,2	K562	blood:
48	7:126412827-126417966..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
49	7:126407551-126409539..7:127221502-127225864	Hela-S3	cervix:
50	chr7:126422481..126424555-chr7:126427314..126429258,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000179562	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000106328	chromatin interactions
ENSG00000048405	chromatin interactions
ENSG00000004059	chromatin interactions

Extended variants
information (count: 5180 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:5180 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2299470	chr7:126219766-126219767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192020360	chr7:126219785-126219786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571309770	chr7:126219827-126219828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538925382	chr7:126219844-126219845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554141931	chr7:126219870-126219871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182281899	chr7:126219896-126219897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76002694	chr7:126219925-126219926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373463242	chr7:126219950-126219951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554477859	chr7:126219989-126219990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147905549	chr7:126219996-126219997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2299471	chr7:126220034-126220035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs73722650	chr7:126220036-126220037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs530169461	chr7:126220049-126220050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80317232	chr7:126220059-126220060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546796037	chr7:126220078-126220079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532407283	chr7:126220102-126220103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563346065	chr7:126220110-126220111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186122106	chr7:126220127-126220128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs377449293	chr7:126220152-126220153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190791046	chr7:126220202-126220203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79289510	chr7:126220205-126220206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530339485	chr7:126220261-126220262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74784345	chr7:126220276-126220277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577052542	chr7:126220279-126220280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570157074	chr7:126220288-126220289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531431662	chr7:126220309-126220310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549649580	chr7:126220355-126220356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183019551	chr7:126220364-126220365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185800279	chr7:126220422-126220423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4731316	chr7:126220432-126220433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553819677	chr7:126220433-126220434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565939839	chr7:126220447-126220448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536159503	chr7:126220463-126220464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2299472	chr7:126220469-126220470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140480536	chr7:126220509-126220510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191358815	chr7:126220535-126220536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369693804	chr7:126220560-126220561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538587934	chr7:126220628-126220629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182631291	chr7:126220646-126220647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554505611	chr7:126220699-126220700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540991395	chr7:126220717-126220718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11770188	chr7:126220738-126220739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574741657	chr7:126220744-126220745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542204896	chr7:126220797-126220798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187753926	chr7:126220798-126220799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574753639	chr7:126220803-126220804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549824392	chr7:126220829-126220830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564940284	chr7:126220855-126220856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533855450	chr7:126220902-126220903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76333793	chr7:126220919-126220920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	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
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126216000-126229200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:126228200-126230000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:126228600-126230200	Enhancers	Dnd41	blood
4	chr7:126228600-126230200	Enhancers	HMEC	breast
5	chr7:126228800-126230000	Enhancers	NHEK	skin
6	chr7:126229000-126230000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:126229200-126229800	Enhancers	HSMM	muscle
8	chr7:126229200-126230000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:126229200-126230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:126229200-126230000	Enhancers	HSMMtube	muscle
11	chr7:126229400-126230000	Enhancers	Placenta	Placenta
12	chr7:126230000-126231200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:126239000-126239400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:126249800-126250200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:126274400-126276200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:126274800-126276200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr7:126275000-126275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:126275600-126276200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr7:126289800-126290800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:126295800-126296600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:126296000-126296400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:126296000-126296400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:126296000-126296800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:126296200-126296600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:126296200-126297000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:126296400-126299400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:126296800-126299200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:126297000-126298000	Enhancers	GM12878-XiMat	blood
29	chr7:126297000-126301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:126297600-126299400	Enhancers	Primary B cells from peripheral blood	blood
31	chr7:126297800-126298200	Enhancers	Fetal Kidney	kidney
32	chr7:126298000-126300400	Flanking Active TSS	GM12878-XiMat	blood
33	chr7:126298200-126298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:126298600-126300200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr7:126299000-126299200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:126299200-126300200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:126299200-126300800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:126299200-126301800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:126299400-126299800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr7:126299600-126300200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr7:126299800-126300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr7:126300200-126300600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr7:126300400-126303400	ZNF genes & repeats	GM12878-XiMat	blood
44	chr7:126300600-126301200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:126300800-126301000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:126300800-126301200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:126301600-126302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:126302600-126303200	Enhancers	HSMMtube	muscle
49	chr7:126307400-126307600	Enhancers	K562	blood
50	chr7:126307600-126307800	Weak transcription	Gastric	stomach

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