Variant report

Variant	nsv947976
Chromosome Location	chr10:49537663-49541857
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49540878..49543802-chr10:49546206..49547724,2	K562	blood:
2	chr10:49538148..49542508-chr10:49545021..49547777,3	K562	blood:
3	chr10:49514705..49518265-chr10:49536043..49538219,3	K562	blood:
4	chr10:49512637..49515508-chr10:49536816..49539799,2	MCF-7	breast:
5	chr10:49517538..49519332-chr10:49540338..49542175,2	MCF-7	breast:
6	chr10:49540944..49543155-chr10:49549106..49551548,2	MCF-7	breast:
7	chr10:49530623..49533140-chr10:49541361..49542874,2	MCF-7	breast:
8	chr10:49528331..49530432-chr10:49537117..49539235,2	K562	blood:
9	chr10:49517751..49518571-chr10:49540674..49541220,2	MCF-7	breast:
10	chr10:49515900..49518265-chr10:49536471..49538431,2	K562	blood:
11	chr10:49423310..49424126-chr10:49540299..49540827,2	MCF-7	breast:
12	chr10:49525748..49527877-chr10:49536971..49539943,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000107643	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534959629	chr10:49537689-49537690	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs553295470	chr10:49537696-49537697	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368106028	chr10:49537737-49537738	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs72792277	chr10:49537824-49537825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544818312	chr10:49537829-49537830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs370570249	chr10:49537872-49537873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs74231909	chr10:49537933-49537934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs190701866	chr10:49537984-49537985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542630949	chr10:49537985-49537986	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115886844	chr10:49537986-49537987	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116937335	chr10:49538000-49538001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs540490764	chr10:49538035-49538036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs564970381	chr10:49538067-49538068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117158464	chr10:49538086-49538087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551104969	chr10:49538097-49538098	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61840556	chr10:49538123-49538124	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530877489	chr10:49538142-49538143	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs56103304	chr10:49538149-49538150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182364970	chr10:49538151-49538152	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187729421	chr10:49538295-49538296	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78717919	chr10:49538300-49538301	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547235580	chr10:49538430-49538431	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56274242	chr10:49538435-49538436	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs71500235	chr10:49538444-49538445	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs141937599	chr10:49538458-49538459	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs536173375	chr10:49538476-49538477	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192536596	chr10:49538481-49538482	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs575429283	chr10:49538543-49538544	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184182990	chr10:49538544-49538545	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs188466330	chr10:49538553-49538554	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs572864522	chr10:49538575-49538576	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs549092132	chr10:49538597-49538598	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs565164402	chr10:49538598-49538599	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs7072515	chr10:49538608-49538609	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs192842688	chr10:49538609-49538610	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534576550	chr10:49538614-49538615	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538340415	chr10:49538618-49538619	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562514430	chr10:49538639-49538640	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530915381	chr10:49538646-49538647	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184679266	chr10:49538702-49538703	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560988794	chr10:49538733-49538734	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558286827	chr10:49538764-49538765	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552716792	chr10:49538790-49538791	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs571428184	chr10:49538793-49538794	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs114937517	chr10:49538794-49538795	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs34476288	chr10:49538832-49538833	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538930888	chr10:49538849-49538850	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs551179706	chr10:49538854-49538855	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs569431328	chr10:49538884-49538885	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs72472026	chr10:49538903-49538904	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49541400	Weak transcription	Lung	lung
2	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
5	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
8	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
10	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:49518200-49542200	Weak transcription	HSMM	muscle
12	chr10:49518600-49538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr10:49518800-49538600	Weak transcription	Fetal Intestine Large	intestine
14	chr10:49518800-49540600	Weak transcription	NHEK	skin
15	chr10:49518800-49542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr10:49518800-49544000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:49519000-49538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:49519000-49540200	Weak transcription	HMEC	breast
19	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
20	chr10:49522800-49539200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
22	chr10:49523400-49538400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr10:49523600-49538600	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:49524800-49538400	Weak transcription	Right Ventricle	heart
25	chr10:49525000-49541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr10:49525400-49538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
28	chr10:49526000-49538400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr10:49526000-49538400	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr10:49526000-49538600	Weak transcription	Fetal Kidney	kidney
31	chr10:49526000-49539600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr10:49526200-49538400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr10:49526200-49538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr10:49526200-49538400	Weak transcription	GM12878-XiMat	blood
35	chr10:49526200-49552000	Weak transcription	NH-A	brain
36	chr10:49526400-49538400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr10:49526400-49538600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr10:49526600-49538400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:49526600-49538600	Weak transcription	Fetal Lung	lung
40	chr10:49526600-49539000	Weak transcription	Fetal Brain Female	brain
41	chr10:49526800-49538400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:49528600-49538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:49529000-49538400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr10:49529000-49538400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr10:49529000-49538600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr10:49529000-49550800	Weak transcription	K562	blood
47	chr10:49529400-49539600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr10:49529800-49539000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr10:49530200-49540800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr10:49530800-49538600	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links