Variant report

Variant	nsv6587
Chromosome Location	chr10:49526329-49571804
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:65)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr10:49569844..49571916-chr17:59471462..59473939,2	MCF-7	breast:
2	chr10:49540944..49543155-chr10:49549106..49551548,2	MCF-7	breast:
3	chr10:49513964..49516103-chr10:49525788..49528265,2	MCF-7	breast:
4	chr10:49520506..49525716-chr10:49528736..49531606,6	K562	blood:
5	chr10:49571331..49572227-chr10:49731692..49732606,3	K562	blood:
6	chr10:49565426..49568203-chr10:49568307..49571165,2	K562	blood:
7	chr10:49514705..49518265-chr10:49536043..49538219,3	K562	blood:
8	chr10:49525969..49527721-chr10:49529565..49532271,2	K562	blood:
9	chr10:49544127..49546033-chr10:49548139..49550800,2	K562	blood:
10	chr10:49571458..49572711-chr10:49713545..49714151,3	MCF-7	breast:
11	chr10:49544127..49546033-chr10:49548139..49550800,2	K562	blood:
12	chr10:49523430..49525253-chr10:49550597..49552808,2	K562	blood:
13	chr10:49571674..49573268-chr10:49594315..49596996,2	K562	blood:
14	chr10:49522636..49524628-chr10:49534736..49536666,2	K562	blood:
15	chr10:49571202..49572251-chr10:49863994..49864953,8	K562	blood:
16	chr10:49538148..49542508-chr10:49545021..49547777,3	K562	blood:
17	chr10:49561490..49563240-chr10:49725537..49727058,2	K562	blood:
18	chr10:49528793..49531665-chr10:49568295..49570746,2	K562	blood:
19	chr10:49528793..49531665-chr10:49568295..49570746,2	K562	blood:
20	chr10:49540878..49543802-chr10:49546206..49547724,2	K562	blood:
21	chr10:49571319..49572300-chr10:49717652..49718657,4	MCF-7	breast:
22	chr10:49540878..49543802-chr10:49546206..49547724,2	K562	blood:
23	chr10:49530623..49533140-chr10:49541361..49542874,2	MCF-7	breast:
24	chr10:49571485..49572253-chr10:49714436..49715142,2	MCF-7	breast:
25	chr10:49515900..49518265-chr10:49536471..49538431,2	K562	blood:
26	chr10:49517751..49518571-chr10:49540674..49541220,2	MCF-7	breast:
27	chr10:49570710..49573542-chr10:49731665..49733795,2	K562	blood:
28	chr10:49570787..49573176-chr10:49651060..49654395,3	MCF-7	breast:
29	chr10:49571283..49571906-chr10:49652430..49653469,3	MCF-7	breast:
30	chr10:49423310..49424126-chr10:49540299..49540827,2	MCF-7	breast:
31	chr10:49551581..49553904-chr10:49558075..49560720,3	K562	blood:
32	chr10:49513460..49515934-chr10:49549553..49551759,2	K562	blood:
33	chr10:49538148..49542508-chr10:49545021..49547777,3	K562	blood:
34	chr10:49560371..49562620-chr10:49566484..49568463,2	K562	blood:
35	chr10:49571331..49572802-chr10:49714283..49715560,20	K562	blood:
36	chr10:49521352..49523336-chr10:49525109..49528054,2	MCF-7	breast:
37	chr10:49530623..49533140-chr10:49541361..49542874,2	MCF-7	breast:
38	chr10:49518118..49521667-chr10:49532319..49534589,3	K562	blood:
39	chr10:49513656..49515281-chr10:49533375..49535731,2	K562	blood:
40	chr10:49525748..49527877-chr10:49536971..49539943,2	K562	blood:
41	chr10:49518947..49521091-chr10:49533089..49535117,2	K562	blood:
42	chr10:49571375..49572211-chr10:49714319..49715238,7	MCF-7	breast:
43	chr10:49565426..49568203-chr10:49568307..49571165,2	K562	blood:
44	chr10:49517538..49519332-chr10:49540338..49542175,2	MCF-7	breast:
45	chr10:49560371..49562620-chr10:49566484..49568463,2	K562	blood:
46	chr10:49559917..49561809-chr10:49572353..49575219,2	MCF-7	breast:
47	chr10:49551581..49553904-chr10:49558075..49560720,3	K562	blood:
48	chr10:49571219..49572252-chr10:49713441..49714210,3	MCF-7	breast:
49	chr10:49571307..49572098-chr10:49717849..49718757,3	MCF-7	breast:
50	chr10:49540944..49543155-chr10:49549106..49551548,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FRMPD2-2	chr10:49542250-49542463	NONHSAT013265
2	lnc-FRMPD2-2	chr10:49550355-49550475	NONHSAT013265

No data

Variant related genes	Relation type
ENSG00000128805	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000107643	chromatin interactions

Extended variants
information (count: 1780 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1780 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550321811	chr10:49526440-49526441	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112335654	chr10:49526452-49526453	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs61840552	chr10:49526480-49526481	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569205856	chr10:49526527-49526528	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536546562	chr10:49526539-49526540	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs555201421	chr10:49526540-49526541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181272803	chr10:49526546-49526547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534386629	chr10:49526604-49526605	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371895379	chr10:49526624-49526625	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs558711937	chr10:49526649-49526650	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs563586686	chr10:49526670-49526671	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544292413	chr10:49526676-49526677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555910781	chr10:49526718-49526719	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184952289	chr10:49526801-49526802	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560387733	chr10:49526807-49526808	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527531255	chr10:49526830-49526831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs56037570	chr10:49526949-49526950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs545848568	chr10:49526978-49526979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111547853	chr10:49527005-49527006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs72792272	chr10:49527072-49527073	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550614036	chr10:49527087-49527088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61840553	chr10:49527113-49527114	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530094819	chr10:49527201-49527202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7068398	chr10:49527206-49527207	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs567129381	chr10:49527249-49527250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs374075466	chr10:49527253-49527254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145596427	chr10:49527256-49527257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs552821717	chr10:49527277-49527278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147708359	chr10:49527278-49527279	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73293150	chr10:49527345-49527346	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs144273491	chr10:49527348-49527349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs111419660	chr10:49527351-49527352	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs535429825	chr10:49527388-49527389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140127504	chr10:49527433-49527434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189664684	chr10:49527473-49527474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374874709	chr10:49527485-49527486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530820842	chr10:49527488-49527489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563942496	chr10:49527497-49527498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114096650	chr10:49527536-49527537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544416497	chr10:49527558-49527559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs562993236	chr10:49527594-49527595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150291066	chr10:49527595-49527596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs548545221	chr10:49527601-49527602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111897533	chr10:49527606-49527607	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12354871	chr10:49527608-49527609	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
46	rs552860428	chr10:49527616-49527617	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571068416	chr10:49527637-49527638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs149101448	chr10:49527718-49527719	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549657804	chr10:49527721-49527722	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs568127138	chr10:49527830-49527831	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49541400	Weak transcription	Lung	lung
2	chr10:49516400-49526400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:49516400-49528000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:49516400-49528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:49516400-49535000	Weak transcription	Fetal Muscle Leg	muscle
6	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
9	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
12	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
14	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr10:49518000-49526800	Weak transcription	Gastric	stomach
16	chr10:49518000-49528800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr10:49518000-49536000	Weak transcription	Fetal Intestine Small	intestine
18	chr10:49518200-49527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:49518200-49542200	Weak transcription	HSMM	muscle
20	chr10:49518600-49538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr10:49518800-49534400	Weak transcription	Brain Germinal Matrix	brain
22	chr10:49518800-49538600	Weak transcription	Fetal Intestine Large	intestine
23	chr10:49518800-49540600	Weak transcription	NHEK	skin
24	chr10:49518800-49542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:49518800-49544000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr10:49519000-49530600	Weak transcription	Fetal Brain Male	brain
27	chr10:49519000-49538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr10:49519000-49540200	Weak transcription	HMEC	breast
29	chr10:49519400-49529600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:49519400-49532200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
32	chr10:49520800-49527800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr10:49520800-49532000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr10:49521000-49536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr10:49522800-49527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr10:49522800-49539200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
38	chr10:49523400-49535600	Weak transcription	Primary T cells from cord blood	blood
39	chr10:49523400-49538400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr10:49523600-49538600	Weak transcription	Colon Smooth Muscle	Colon
41	chr10:49524200-49526400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr10:49524200-49527000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr10:49524400-49526400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr10:49524400-49527000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr10:49524400-49527200	Enhancers	Ovary	ovary
46	chr10:49524800-49538400	Weak transcription	Right Ventricle	heart
47	chr10:49525000-49541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr10:49525200-49535400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr10:49525400-49526800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr10:49525400-49527200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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