Variant report

Variant	nsv970968
Chromosome Location	chr7:150589281-150612420
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150595224..150596309-chr7:150682667..150684079,9	MCF-7	breast:
2	chr7:150595266..150596292-chr7:150659766..150660896,3	K562	blood:
3	chr7:150597420..150599552-chr7:150675376..150678121,2	K562	blood:
4	chr7:150594719..150596784-chr7:150671045..150673400,2	MCF-7	breast:
5	chr7:150595209..150595856-chr7:150691392..150692242,2	K562	blood:
6	chr7:150595285..150595942-chr7:150638602..150639551,2	MCF-7	breast:
7	chr7:150595645..150596235-chr7:150869234..150870141,2	MCF-7	breast:
8	chr7:150595860..150599286-chr7:150714310..150716664,3	K562	blood:
9	chr7:150595230..150595809-chr7:150756656..150757191,2	K562	blood:
10	chr7:150594117..150594813-chr7:150683294..150683813,2	MCF-7	breast:
11	chr7:150593671..150595670-chr7:150707603..150709523,2	K562	blood:
12	chr7:150588951..150590460-chr7:150591915..150593623,2	K562	blood:
13	chr7:150595552..150596160-chr7:150807947..150808760,2	K562	blood:
14	chr7:150607061..150610387-chr7:150610686..150614905,4	K562	blood:
15	chr7:150573795..150574494-chr7:150595524..150596109,2	MCF-7	breast:
16	chr7:150612304..150615151-chr7:150617269..150619217,3	K562	blood:
17	chr7:150592534..150594074-chr7:150674955..150677260,2	MCF-7	breast:
18	chr7:150598664..150599298-chr7:150683919..150684824,2	K562	blood:
19	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
20	chr7:150607061..150610387-chr7:150610686..150614905,4	K562	blood:
21	chr7:150595118..150596336-chr7:150685225..150686536,14	K562	blood:
22	chr7:150595297..150595901-chr7:151000224..151001110,2	MCF-7	breast:
23	chr7:150595261..150596228-chr7:150705729..150706424,2	K562	blood:
24	chr7:150595062..150596167-chr7:150685299..150686246,6	MCF-7	breast:
25	chr7:150589234..150591058-chr7:150601440..150603624,3	K562	blood:
26	chr7:150588951..150590460-chr7:150591915..150593623,2	K562	blood:
27	chr7:150595619..150596243-chr7:150682817..150683798,3	K562	blood:
28	chr7:150564868..150567649-chr7:150590717..150593691,2	K562	blood:
29	chr7:150593930..150595766-chr7:150657533..150659596,2	K562	blood:
30	chr7:150518127..150520985-chr7:150609334..150612309,2	K562	blood:
31	chr7:150595334..150596475-chr7:150715020..150715911,4	K562	blood:
32	chr7:150588989..150591013-chr7:150594211..150596006,2	K562	blood:
33	chr7:150589234..150591058-chr7:150601440..150603624,3	K562	blood:
34	chr7:150595318..150596192-chr7:150714946..150715892,2	MCF-7	breast:
35	chr7:150608571..150611938-chr7:150615619..150619257,3	K562	blood:
36	chr7:150595255..150596427-chr7:150685626..150686266,3	MCF-7	breast:
37	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
38	chr7:150595154..150595801-chr7:150808802..150809459,2	K562	blood:
39	chr7:150596864..150597764-chr7:150685476..150685984,2	MCF-7	breast:
40	chr7:150609675..150612217-chr7:150612487..150614476,2	MCF-7	breast:
41	chr7:150595709..150596608-chr7:150682983..150683767,2	MCF-7	breast:
42	chr7:150588989..150591013-chr7:150594211..150596006,2	K562	blood:
43	chr7:150595241..150596841-chr7:150652736..150654627,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164889	chromatin interactions
ENSG00000133612	chromatin interactions
ENSG00000164867	chromatin interactions
ENSG00000055118	chromatin interactions
ENSG00000181652	chromatin interactions

Extended variants
information (count: 805 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:805 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577860260	chr7:150589297-150589298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543671149	chr7:150589364-150589365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563353026	chr7:150589466-150589467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529038131	chr7:150589469-150589470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541947135	chr7:150589481-150589482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564167031	chr7:150589484-150589485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141172133	chr7:150589515-150589516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527722238	chr7:150589522-150589523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143049688	chr7:150589530-150589531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181159085	chr7:150589535-150589536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570779101	chr7:150589554-150589555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542979777	chr7:150589568-150589569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186354325	chr7:150589585-150589586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190079830	chr7:150589616-150589617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs143467863	chr7:150589637-150589638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78840943	chr7:150589646-150589647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11773715	chr7:150589691-150589692	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs536167253	chr7:150589741-150589742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111493147	chr7:150589769-150589770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529633695	chr7:150591002-150591003	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11765351	chr7:150591005-150591006	Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564808207	chr7:150591047-150591048	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs141887925	chr7:150591128-150591129	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs191850274	chr7:150591200-150591201	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs565492350	chr7:150592623-150592624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146010460	chr7:150592652-150592653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs546350191	chr7:150592659-150592660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560648846	chr7:150592671-150592672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561738629	chr7:150592672-150592673	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62492397	chr7:150592713-150592714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs192397828	chr7:150592715-150592716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs566300239	chr7:150592735-150592736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs11762854	chr7:150592741-150592742	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs36044306	chr7:150592752-150592753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552169198	chr7:150592758-150592759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs569058465	chr7:150592776-150592777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538034974	chr7:150592793-150592794	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs543270662	chr7:150592844-150592845	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs551305125	chr7:150592847-150592848	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184994120	chr7:150592871-150592872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569198510	chr7:150592882-150592883	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567769365	chr7:150592896-150592897	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536696669	chr7:150592956-150592957	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs553355561	chr7:150592970-150592971	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs186604015	chr7:150593059-150593060	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs545718387	chr7:150593064-150593065	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs558965388	chr7:150593078-150593079	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575482456	chr7:150593089-150593090	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs139908657	chr7:150593121-150593122	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs561106709	chr7:150593147-150593148	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Ovarian cancer	21781307	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150587600-150589800	Enhancers	Primary B cells from peripheral blood	blood
2	chr7:150589200-150589400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:150591000-150591200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
4	chr7:150592800-150596000	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:150593200-150594400	Enhancers	GM12878-XiMat	blood
6	chr7:150593400-150595800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:150593600-150593800	Enhancers	Colonic Mucosa	Colon
8	chr7:150593600-150594400	Enhancers	Spleen	Spleen
9	chr7:150593800-150594000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr7:150593800-150594200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr7:150594000-150594200	Bivalent Enhancer	Esophagus	oesophagus
12	chr7:150594000-150594200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr7:150594000-150595000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:150594000-150607400	Weak transcription	Right Atrium	heart
15	chr7:150594200-150594400	Enhancers	Duodenum Mucosa	Duodenum
16	chr7:150594200-150595200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:150594200-150595400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr7:150594200-150596000	Enhancers	Primary B cells from cord blood	blood
19	chr7:150594400-150595200	Flanking Active TSS	GM12878-XiMat	blood
20	chr7:150594400-150595800	Weak transcription	Spleen	Spleen
21	chr7:150594600-150594800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr7:150594800-150595600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr7:150595000-150595200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:150595000-150596000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
25	chr7:150595000-150596000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:150595000-150596200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr7:150595200-150595400	Bivalent Enhancer	HSMM	muscle
28	chr7:150595200-150595600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
29	chr7:150595200-150595600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
30	chr7:150595200-150595600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:150595200-150596000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:150595200-150596000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:150595200-150596000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:150595200-150596000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:150595200-150596000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr7:150595200-150596200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr7:150595200-150596200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr7:150595200-150596200	Enhancers	Colon Smooth Muscle	Colon
39	chr7:150595200-150596200	Enhancers	GM12878-XiMat	blood
40	chr7:150595200-150596800	Bivalent Enhancer	Placenta	Placenta
41	chr7:150595400-150595600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr7:150595400-150595600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr7:150595400-150595600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr7:150595400-150595600	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:150595400-150595600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
46	chr7:150595400-150595600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:150595400-150595600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:150595400-150595600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:150595400-150595600	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr7:150595400-150595600	Active TSS	Rectal Smooth Muscle	rectum

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