Variant report

Variant	nsv539213
Chromosome Location	chr7:153153852-153379878
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:109)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:109 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:153102721..153106606-chr7:153212905..153219163,7	K562	blood:
2	chr7:153341235..153342881-chr7:153346431..153348736,2	K562	blood:
3	chr7:153336841..153338851-chr7:153344119..153346784,2	K562	blood:
4	chr7:153104344..153107285-chr7:153206128..153208703,2	K562	blood:
5	chr7:153104593..153107356-chr7:153151532..153153946,4	K562	blood:
6	chr7:153291103..153293422-chr7:153317816..153319821,2	K562	blood:
7	chr7:153150343..153152572-chr7:153153820..153155844,2	K562	blood:
8	chr7:153212579..153217619-chr7:153220846..153223669,4	K562	blood:
9	chr7:153294161..153296429-chr7:153302912..153305388,2	K562	blood:
10	chr7:153102849..153104905-chr7:153187331..153188983,2	K562	blood:
11	chr7:153349889..153351413-chr7:153353236..153355275,2	K562	blood:
12	chr7:153204732..153207238-chr7:153212337..153214692,2	MCF-7	breast:
13	chr7:153103154..153105187-chr7:153228223..153229957,2	K562	blood:
14	chr7:153294161..153296429-chr7:153302912..153305388,2	K562	blood:
15	chr7:153089054..153091644-chr7:153185631..153188291,2	K562	blood:
16	chr7:153358262..153360123-chr7:153364415..153366361,2	K562	blood:
17	chr7:153100549..153102656-chr7:153210062..153212505,2	K562	blood:
18	chr7:153250299..153251916-chr7:153251980..153254318,2	K562	blood:
19	chr7:153313143..153316198-chr7:153317253..153319908,4	K562	blood:
20	chr7:153105266..153107285-chr7:153207203..153209217,2	K562	blood:
21	chr7:153288321..153290780-chr7:153315466..153317152,2	K562	blood:
22	chr7:153205000..153206676-chr7:153209443..153211203,2	K562	blood:
23	chr7:153104012..153105714-chr7:153166504..153168791,2	K562	blood:
24	chr7:153168042..153171876-chr7:153172518..153177517,5	K562	blood:
25	chr7:153103375..153106774-chr7:153173661..153176724,3	K562	blood:
26	chr7:153119320..153121928-chr7:153170985..153172845,2	K562	blood:
27	chr7:153244368..153246054-chr7:153249661..153252423,2	K562	blood:
28	chr7:153204732..153207238-chr7:153212337..153214692,2	MCF-7	breast:
29	chr7:153094292..153096861-chr7:153257977..153260330,2	K562	blood:
30	chr7:153291103..153293422-chr7:153317816..153319821,2	K562	blood:
31	chr7:153168165..153169692-chr7:153180801..153182343,2	K562	blood:
32	chr7:153353780..153355410-chr7:153357076..153358792,2	K562	blood:
33	chr7:153366174..153368925-chr7:153372775..153374765,2	K562	blood:
34	chr7:153104280..153106430-chr7:153200479..153202606,2	K562	blood:
35	chr7:153361300..153363555-chr7:153366208..153367723,2	K562	blood:
36	chr7:153250299..153251916-chr7:153251980..153254318,2	K562	blood:
37	chr7:153091082..153093692-chr7:153327387..153329268,2	K562	blood:
38	chr7:153164128..153166408-chr7:153169798..153172057,2	K562	blood:
39	chr7:153111734..153114146-chr7:153170231..153173109,2	K562	blood:
40	chr7:153098922..153104611-chr7:153159671..153165769,5	K562	blood:
41	chr7:153288321..153290780-chr7:153315466..153317152,2	K562	blood:
42	chr7:153103413..153106073-chr7:153238288..153241221,2	K562	blood:
43	chr7:153179767..153181427-chr7:153183794..153186407,2	K562	blood:
44	chr7:153211272..153214014-chr7:153217358..153218888,2	K562	blood:
45	chr7:153100488..153103412-chr7:153303424..153305965,2	K562	blood:
46	chr7:153211272..153214014-chr7:153217358..153218888,2	K562	blood:
47	chr7:153110155..153112303-chr7:153247620..153250543,3	K562	blood:
48	chr7:153100820..153103410-chr7:153246584..153249087,2	K562	blood:
49	chr7:153341235..153342881-chr7:153346431..153348736,2	K562	blood:
50	chr7:153099524..153101138-chr7:153168192..153169885,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-XRCC2-3	chr7:153221094-153221300	XLOC_006658
2	lnc-XRCC2-3	chr7:153220300-153220910	XLOC_006658

No data

Variant related genes	Relation type
ENSG00000234722	chromatin interactions

Extended variants
information (count: 3730 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3730 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6960892	chr7:153153920-153153921	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570010887	chr7:153153946-153153947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537232175	chr7:153153982-153153983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558822200	chr7:153153983-153153984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6961431	chr7:153153996-153153997	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs534774437	chr7:153154008-153154009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11766913	chr7:153154034-153154035	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs56003649	chr7:153154044-153154045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574697988	chr7:153154060-153154061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541869311	chr7:153154064-153154065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563632452	chr7:153154097-153154098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11773882	chr7:153154107-153154108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs545969494	chr7:153154180-153154181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190767380	chr7:153154188-153154189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11760259	chr7:153154196-153154197	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs547133435	chr7:153154201-153154202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559400062	chr7:153154218-153154219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529652480	chr7:153154223-153154224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548247641	chr7:153154274-153154275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73493012	chr7:153154311-153154312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537371175	chr7:153154329-153154330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368152246	chr7:153154376-153154377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536871747	chr7:153154410-153154411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76477383	chr7:153154421-153154422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570514377	chr7:153154440-153154441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534820248	chr7:153154442-153154443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553189383	chr7:153154450-153154451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574918056	chr7:153154458-153154459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182946025	chr7:153154472-153154473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556966377	chr7:153154534-153154535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575261563	chr7:153154577-153154578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376777156	chr7:153154584-153154585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546051421	chr7:153154586-153154587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564808164	chr7:153154606-153154607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573308517	chr7:153154630-153154631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144992567	chr7:153154632-153154633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147556814	chr7:153154648-153154649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529847376	chr7:153154651-153154652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115847730	chr7:153154685-153154686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563245690	chr7:153154735-153154736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543041430	chr7:153154751-153154752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185775066	chr7:153154840-153154841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565026061	chr7:153154842-153154843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142007759	chr7:153154849-153154850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146902245	chr7:153154863-153154864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191577862	chr7:153154874-153154875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138949855	chr7:153154899-153154900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10952420	chr7:153154926-153154927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148969544	chr7:153154932-153154933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559596647	chr7:153154934-153154935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	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
Ovarian cancer	21720365	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Autism	22102821	CNVD
Myelofibrosis	22110671	CNVD
Nasopharyngeal cancer	20548289	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Chordoma	21215367	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:220 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153134400-153159200	Weak transcription	Right Atrium	heart
2	chr7:153153600-153155000	Weak transcription	Fetal Kidney	kidney
3	chr7:153154600-153155800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:153154800-153155800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:153154800-153155800	Enhancers	Brain Germinal Matrix	brain
6	chr7:153154800-153156000	Enhancers	Stomach Smooth Muscle	stomach
7	chr7:153155000-153155400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:153155000-153156000	Enhancers	Fetal Kidney	kidney
9	chr7:153155200-153155800	Enhancers	Colon Smooth Muscle	Colon
10	chr7:153155200-153156000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:153155600-153156000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:153167200-153168400	Bivalent Enhancer	K562	blood
13	chr7:153169400-153169800	Enhancers	Spleen	Spleen
14	chr7:153169600-153169800	Enhancers	Fetal Muscle Trunk	muscle
15	chr7:153169600-153169800	Bivalent Enhancer	K562	blood
16	chr7:153169800-153170000	Enhancers	K562	blood
17	chr7:153169800-153170600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:153169800-153170600	Enhancers	Fetal Kidney	kidney
19	chr7:153170000-153170800	Enhancers	Colon Smooth Muscle	Colon
20	chr7:153170000-153171000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:153170400-153171000	Enhancers	Ovary	ovary
22	chr7:153170600-153171400	Weak transcription	Fetal Kidney	kidney
23	chr7:153171400-153171600	Enhancers	Fetal Kidney	kidney
24	chr7:153171400-153171800	Enhancers	Fetal Muscle Leg	muscle
25	chr7:153171600-153171800	Weak transcription	Right Atrium	heart
26	chr7:153171600-153172600	Weak transcription	Fetal Kidney	kidney
27	chr7:153171800-153172000	Enhancers	Right Atrium	heart
28	chr7:153171800-153172200	Weak transcription	Fetal Muscle Leg	muscle
29	chr7:153172000-153175200	Weak transcription	Right Atrium	heart
30	chr7:153172200-153173400	Enhancers	Fetal Muscle Leg	muscle
31	chr7:153172400-153172600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:153172600-153172800	Enhancers	Fetal Kidney	kidney
33	chr7:153172600-153173400	Enhancers	Fetal Muscle Trunk	muscle
34	chr7:153173000-153173600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:153173000-153173600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:153173400-153175600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr7:153175200-153176200	ZNF genes & repeats	Right Atrium	heart
38	chr7:153175600-153176200	Enhancers	Fetal Muscle Trunk	muscle
39	chr7:153176400-153176600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:153192000-153192200	Enhancers	Left Ventricle	heart
41	chr7:153192000-153192600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:153192800-153194000	Enhancers	Stomach Smooth Muscle	stomach
43	chr7:153193000-153193800	Enhancers	Adipose Nuclei	Adipose
44	chr7:153193400-153193800	Enhancers	Rectal Smooth Muscle	rectum
45	chr7:153201000-153201400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:153201400-153202000	Enhancers	Stomach Smooth Muscle	stomach
47	chr7:153201600-153202200	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:153201800-153202200	Enhancers	Colon Smooth Muscle	Colon
49	chr7:153202200-153207600	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:153205000-153205200	Enhancers	Stomach Smooth Muscle	stomach

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