Variant report

Variant	nsv549864
Chromosome Location	chr10:4704709-4710298
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:22)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4702583..4705681-chr10:4760032..4763003,3	MCF-7	breast:
2	chr10:4704028..4707695-chr10:4796284..4798657,3	MCF-7	breast:
3	chr10:4701367..4707262-chr10:4764196..4772300,19	MCF-7	breast:
4	chr10:4701957..4706155-chr10:4806561..4810168,4	MCF-7	breast:
5	chr10:4702582..4706500-chr10:4772852..4778695,11	MCF-7	breast:
6	chr10:3826531..3829681-chr10:4703609..4706430,7	MCF-7	breast:
7	chr10:3826124..3828322-chr10:4703952..4705855,2	MCF-7	breast:
8	chr10:4320010..4324018-chr10:4702839..4706546,5	MCF-7	breast:
9	chr10:3928607..3931321-chr10:4704899..4706515,2	MCF-7	breast:
10	chr10:4704371..4707713-chr10:4716720..4722125,6	MCF-7	breast:
11	chr10:3873499..3876423-chr10:4703265..4705596,2	MCF-7	breast:
12	chr10:4703565..4707087-chr10:4805209..4809008,5	MCF-7	breast:
13	chr10:4703699..4707665-chr10:4763385..4769263,9	MCF-7	breast:
14	chr10:4692495..4696289-chr10:4704356..4708036,4	MCF-7	breast:
15	chr10:4704812..4707104-chr10:4757845..4760690,2	MCF-7	breast:
16	chr10:4698769..4700286-chr10:4703854..4706647,2	MCF-7	breast:
17	chr10:4705429..4707304-chr10:4750266..4753221,2	MCF-7	breast:
18	chr10:4703462..4705241-chr10:4867377..4869732,2	MCF-7	breast:
19	chr10:4702931..4705070-chr10:4793409..4795730,2	MCF-7	breast:
20	chr10:4694173..4696454-chr10:4704960..4707093,2	K562	blood:
21	chr10:4702078..4707095-chr10:4773802..4779822,17	MCF-7	breast:
22	chr10:4704243..4706913-chr10:4720436..4722129,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1C2-9	chr10:4710241-4710324	NONHSAT011104
2	lnc-AKR1C2-9	chr10:4710241-4710346	NONHSAT011102
3	lnc-AKR1C2-9	chr10:4710241-4710262	l_243_NR_024475

No data

Variant related genes	Relation type
ENSG00000067082	chromatin interactions
ENSG00000231298	chromatin interactions
ENSG00000165568	chromatin interactions
ENSG00000230573	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs10795195	chr10:4704709-4704710	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553546841	chr10:4704725-4704726	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs544941504	chr10:4704734-4704735	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs574885769	chr10:4704785-4704786	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs566544371	chr10:4704789-4704790	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs116815011	chr10:4704801-4704802	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs188009726	chr10:4704802-4704803	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs375450701	chr10:4704817-4704818	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs368456757	chr10:4704822-4704823	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs560596513	chr10:4704827-4704828	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs546203564	chr10:4704900-4704901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs192279475	chr10:4704901-4704902	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs573390222	chr10:4704937-4704938	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs78574052	chr10:4704981-4704982	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs148171579	chr10:4704994-4704995	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs578223266	chr10:4704998-4704999	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs112411417	chr10:4705023-4705024	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs45608837	chr10:4705044-4705045	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75650164	chr10:4705076-4705077	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563151575	chr10:4705084-4705085	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs530803638	chr10:4705107-4705108	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs529008883	chr10:4705121-4705122	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs141990502	chr10:4705210-4705211	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs570618282	chr10:4705229-4705230	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs529428512	chr10:4705243-4705244	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs185074338	chr10:4705294-4705295	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs546821805	chr10:4705313-4705314	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs568527074	chr10:4705346-4705347	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535968614	chr10:4705353-4705354	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs374045769	chr10:4705389-4705390	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201367407	chr10:4705400-4705401	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs557297024	chr10:4705425-4705426	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs548869647	chr10:4705442-4705443	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs150096408	chr10:4705572-4705573	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs138649200	chr10:4705597-4705598	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs558206131	chr10:4705633-4705634	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112835142	chr10:4705647-4705648	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574213634	chr10:4705663-4705664	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs142775889	chr10:4705710-4705711	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs367857358	chr10:4705719-4705720	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs555547618	chr10:4705725-4705726	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs574158040	chr10:4705730-4705731	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs189395953	chr10:4705736-4705737	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181633049	chr10:4705741-4705742	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11252647	chr10:4705800-4705801	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs184408213	chr10:4705813-4705814	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147378715	chr10:4705822-4705823	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs546077502	chr10:4705962-4705963	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564181809	chr10:4705966-4705967	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs34770509	chr10:4706012-4706013	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:197 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4696400-4705200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr10:4699800-4705200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr10:4700800-4705000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr10:4701200-4705000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:4701200-4705400	Weak transcription	Fetal Brain Male	brain
6	chr10:4702600-4708000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:4703000-4704800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr10:4703000-4705000	Enhancers	Right Ventricle	heart
9	chr10:4703000-4705200	Enhancers	Fetal Muscle Trunk	muscle
10	chr10:4703000-4705800	Enhancers	Fetal Muscle Leg	muscle
11	chr10:4703000-4705800	Enhancers	Ovary	ovary
12	chr10:4703200-4705200	Enhancers	Left Ventricle	heart
13	chr10:4703400-4704800	Enhancers	HSMM	muscle
14	chr10:4703400-4705000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:4703400-4705200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr10:4703600-4706000	Enhancers	Placenta	Placenta
17	chr10:4703600-4706600	Enhancers	Colon Smooth Muscle	Colon
18	chr10:4703600-4706600	Enhancers	NHLF	lung
19	chr10:4703600-4707000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:4703600-4707000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr10:4703600-4708200	Enhancers	NHDF-Ad	bronchial
22	chr10:4703600-4708400	Enhancers	Fetal Intestine Small	intestine
23	chr10:4703800-4704800	Enhancers	NHEK	skin
24	chr10:4703800-4705000	Enhancers	Lung	lung
25	chr10:4703800-4705200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr10:4703800-4705200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:4703800-4705600	Enhancers	Esophagus	oesophagus
28	chr10:4703800-4705800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:4703800-4705800	Enhancers	Pancreas	Pancrea
30	chr10:4703800-4706000	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr10:4703800-4706000	Enhancers	Fetal Lung	lung
32	chr10:4703800-4706400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr10:4703800-4707000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr10:4703800-4707000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr10:4703800-4707200	Enhancers	Fetal Intestine Large	intestine
36	chr10:4703800-4708000	Enhancers	Dnd41	blood
37	chr10:4704000-4705000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:4704000-4705000	Enhancers	Colonic Mucosa	Colon
39	chr10:4704000-4705000	Weak transcription	Psoas Muscle	Psoas
40	chr10:4704000-4705000	Enhancers	Rectal Smooth Muscle	rectum
41	chr10:4704000-4705400	Enhancers	Aorta	Aorta
42	chr10:4704000-4705400	Flanking Active TSS	HSMMtube	muscle
43	chr10:4704000-4705600	Enhancers	Gastric	stomach
44	chr10:4704000-4705800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:4704000-4706000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr10:4704000-4706000	Enhancers	Duodenum Mucosa	Duodenum
47	chr10:4704000-4707000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr10:4704000-4707600	Enhancers	HMEC	breast
49	chr10:4704200-4705000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:4704200-4705000	Enhancers	NH-A	brain

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