Variant report

Variant	nsv889513
Chromosome Location	chr7:153215127-153368459
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:61)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:153286479..153288377-chr7:153294913..153296439,2	K562	blood:
2	chr7:153103413..153106073-chr7:153238288..153241221,2	K562	blood:
3	chr7:153349889..153351413-chr7:153353236..153355275,2	K562	blood:
4	chr7:153346075..153348909-chr7:153353457..153355073,2	K562	blood:
5	chr7:153107803..153110775-chr7:153221727..153224014,2	K562	blood:
6	chr7:153103154..153105187-chr7:153228223..153229957,2	K562	blood:
7	chr7:153302622..153304784-chr7:153308903..153310899,2	K562	blood:
8	chr7:153098583..153101313-chr7:153228583..153231539,3	K562	blood:
9	chr7:153288321..153290780-chr7:153315466..153317152,2	K562	blood:
10	chr7:153349889..153351413-chr7:153353236..153355275,2	K562	blood:
11	chr7:153100739..153103301-chr7:153343816..153346301,2	K562	blood:
12	chr7:153286479..153288377-chr7:153294913..153296439,2	K562	blood:
13	chr7:153336841..153338851-chr7:153344119..153346784,2	K562	blood:
14	chr7:153094292..153096861-chr7:153257977..153260330,2	K562	blood:
15	chr7:153104137..153106481-chr7:153366224..153368570,2	K562	blood:
16	chr7:153358262..153360123-chr7:153364415..153366361,2	K562	blood:
17	chr7:153341235..153342881-chr7:153346431..153348736,2	K562	blood:
18	chr7:153100488..153103412-chr7:153303424..153305965,2	K562	blood:
19	chr7:153244368..153246054-chr7:153249661..153252423,2	K562	blood:
20	chr7:153110155..153112303-chr7:153247620..153250543,3	K562	blood:
21	chr7:153250299..153251916-chr7:153251980..153254318,2	K562	blood:
22	chr7:153211272..153214014-chr7:153217358..153218888,2	K562	blood:
23	chr7:153336841..153338851-chr7:153344119..153346784,2	K562	blood:
24	chr7:153291103..153293422-chr7:153317816..153319821,2	K562	blood:
25	chr7:153346075..153348909-chr7:153353457..153355073,2	K562	blood:
26	chr7:153104305..153105912-chr7:153250061..153252295,2	K562	blood:
27	chr7:153313143..153316198-chr7:153317253..153319908,4	K562	blood:
28	chr7:153353677..153355280-chr7:153357292..153359740,2	K562	blood:
29	chr7:153298050..153299925-chr7:153304254..153305961,2	K562	blood:
30	chr7:153100820..153103410-chr7:153246584..153249087,2	K562	blood:
31	chr7:153313143..153316198-chr7:153317253..153319908,4	K562	blood:
32	chr7:153102721..153106606-chr7:153212905..153219163,7	K562	blood:
33	chr7:153298050..153299925-chr7:153304254..153305961,2	K562	blood:
34	chr7:153094563..153096914-chr7:153326913..153328518,2	K562	blood:
35	chr7:153095496..153100083-chr7:153227240..153231404,4	K562	blood:
36	chr7:153288321..153290780-chr7:153315466..153317152,2	K562	blood:
37	chr7:153212579..153217619-chr7:153220846..153223669,4	K562	blood:
38	chr7:153353780..153355410-chr7:153357076..153358792,2	K562	blood:
39	chr7:153103515..153106229-chr7:153225211..153227248,2	K562	blood:
40	chr7:153244368..153246054-chr7:153249661..153252423,2	K562	blood:
41	chr7:153099940..153103347-chr7:153340908..153343699,3	K562	blood:
42	chr7:153103413..153106356-chr7:153237101..153239788,2	K562	blood:
43	chr7:153294161..153296429-chr7:153302912..153305388,2	K562	blood:
44	chr7:153094372..153097321-chr7:153253930..153256627,2	K562	blood:
45	chr7:153212579..153217619-chr7:153220846..153223669,4	K562	blood:
46	chr7:153291103..153293422-chr7:153317816..153319821,2	K562	blood:
47	chr7:153102808..153104376-chr7:153215788..153218674,2	K562	blood:
48	chr7:153250299..153251916-chr7:153251980..153254318,2	K562	blood:
49	chr7:153341235..153342881-chr7:153346431..153348736,2	K562	blood:
50	chr7:153361300..153363555-chr7:153366208..153367723,2	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: 2062 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:2062 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3111276	chr7:153215127-153215128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558785648	chr7:153215151-153215152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576065621	chr7:153215160-153215161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543005402	chr7:153215178-153215179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564585549	chr7:153215185-153215186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576920205	chr7:153215217-153215218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185496768	chr7:153215218-153215219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114901048	chr7:153215291-153215292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370400948	chr7:153215354-153215355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs529849858	chr7:153215367-153215368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs62495809	chr7:153215384-153215385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187759382	chr7:153215392-153215393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572439728	chr7:153215395-153215396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542629428	chr7:153215398-153215399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563791826	chr7:153215419-153215420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191518012	chr7:153215433-153215434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552581587	chr7:153215440-153215441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570895555	chr7:153215451-153215452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374439091	chr7:153215468-153215469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541284657	chr7:153215519-153215520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10243800	chr7:153215527-153215528	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183616964	chr7:153215539-153215540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543471152	chr7:153215565-153215566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3110849	chr7:153215628-153215629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs3111277	chr7:153215697-153215698	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs368079292	chr7:153215843-153215844	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs188722938	chr7:153215896-153215897	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs138607704	chr7:153215901-153215902	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs181252412	chr7:153215923-153215924	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs576400490	chr7:153215924-153215925	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs185486371	chr7:153215960-153215961	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs3110846	chr7:153215970-153215971	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566225242	chr7:153215982-153215983	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs530380707	chr7:153216023-153216024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574681576	chr7:153216048-153216049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542002647	chr7:153216100-153216101	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs563363238	chr7:153216138-153216139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559385474	chr7:153216161-153216162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546286633	chr7:153216205-153216206	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs574478019	chr7:153216206-153216207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs189913543	chr7:153216222-153216223	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs548227839	chr7:153216223-153216224	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs149266271	chr7:153216241-153216242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs73729068	chr7:153216306-153216307	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs529606521	chr7:153216325-153216326	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs62495810	chr7:153216340-153216341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs4626512	chr7:153216346-153216347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs181641277	chr7:153216351-153216352	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370167220	chr7:153216362-153216363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs558182955	chr7:153216392-153216393	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	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
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
Breast cancer	21509527	CNVD
Autism	20531469	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:153211800-153218200	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:153214400-153216800	Weak transcription	Right Atrium	heart
3	chr7:153214800-153217400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:153215000-153215800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:153215200-153215600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:153215200-153215800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:153215200-153216000	Enhancers	NHEK	skin
8	chr7:153215400-153216200	Enhancers	HMEC	breast
9	chr7:153215600-153221000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:153215800-153216400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:153215800-153216400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:153216000-153216400	Flanking Active TSS	NHEK	skin
13	chr7:153216200-153221200	Weak transcription	HMEC	breast
14	chr7:153216400-153219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:153216400-153219200	Weak transcription	NHEK	skin
16	chr7:153217000-153217600	Enhancers	Fetal Kidney	kidney
17	chr7:153217200-153217400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:153217400-153218600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:153217400-153219400	Enhancers	Stomach Smooth Muscle	stomach
20	chr7:153217400-153221000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:153217600-153218400	Weak transcription	Fetal Kidney	kidney
22	chr7:153218200-153220600	Enhancers	Colon Smooth Muscle	Colon
23	chr7:153218400-153218600	Enhancers	Fetal Kidney	kidney
24	chr7:153218400-153222400	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:153218600-153218800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr7:153218600-153219400	Weak transcription	Fetal Kidney	kidney
27	chr7:153218600-153222600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:153219200-153219400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:153219200-153219400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:153219200-153221200	Enhancers	NHEK	skin
31	chr7:153219200-153221600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:153219400-153219600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr7:153219400-153219800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:153219400-153220000	Enhancers	Adipose Nuclei	Adipose
35	chr7:153219400-153220000	Active TSS	Stomach Smooth Muscle	stomach
36	chr7:153219400-153221400	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr7:153219400-153221400	Enhancers	Fetal Kidney	kidney
38	chr7:153219600-153219800	Enhancers	Brain Hippocampus Middle	brain
39	chr7:153219800-153221400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:153219800-153222000	Enhancers	Fetal Stomach	stomach
41	chr7:153220000-153221000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:153220000-153221400	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr7:153220000-153221800	Bivalent Enhancer	Fetal Brain Male	brain
44	chr7:153220400-153221800	Enhancers	Fetal Brain Female	brain
45	chr7:153220400-153222200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr7:153220600-153221400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr7:153220800-153221200	Enhancers	Brain Germinal Matrix	brain
48	chr7:153220800-153221400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:153220800-153222200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:153221000-153221400	Enhancers	Adipose Nuclei	Adipose

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