Variant report

Variant	nsv963967
Chromosome Location	chr2:174110161-174115011
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:174101444..174103185-chr2:174111831..174113518,2	K562	blood:
2	chr2:173962336..173964698-chr2:174110166..174112253,2	K562	blood:
3	chr2:174110186..174112559-chr2:174203916..174205836,2	K562	blood:
4	chr2:174112479..174114723-chr2:174115730..174117635,2	K562	blood:
5	chr2:174111513..174115416-chr2:174218712..174221117,3	K562	blood:
6	chr2:174114511..174117422-chr2:174125474..174127049,2	K562	blood:
7	chr2:174104088..174106166-chr2:174113223..174115189,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236391	chromatin interactions
ENSG00000144354	chromatin interactions

Extended variants
information (count: 172 )
Associated
traits (count: 44 )

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	rs187628554	chr2:174110174-174110175	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536446544	chr2:174110193-174110194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555186909	chr2:174110239-174110240	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190701660	chr2:174110310-174110311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540758962	chr2:174110342-174110343	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111332525	chr2:174110395-174110396	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577269306	chr2:174110457-174110458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113981754	chr2:174110479-174110480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs201662127	chr2:174110534-174110535	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563431520	chr2:174110555-174110556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530874681	chr2:174110631-174110632	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548887944	chr2:174110665-174110666	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561164073	chr2:174110712-174110713	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528289630	chr2:174110726-174110727	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547727625	chr2:174110750-174110751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546253132	chr2:174110761-174110762	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183044091	chr2:174110778-174110779	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187618881	chr2:174110780-174110781	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550599464	chr2:174110803-174110804	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569443887	chr2:174110807-174110808	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528709195	chr2:174110819-174110820	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79518718	chr2:174110879-174110880	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7584891	chr2:174110952-174110953	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs17691325	chr2:174111021-174111022	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16861422	chr2:174111056-174111057	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189915822	chr2:174111074-174111075	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs17691367	chr2:174111079-174111080	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546795618	chr2:174111089-174111090	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374758203	chr2:174111103-174111104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556552236	chr2:174111166-174111167	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577040156	chr2:174111172-174111173	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376362881	chr2:174111179-174111180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371245267	chr2:174111182-174111183	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182593866	chr2:174111246-174111247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542876982	chr2:174111249-174111250	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187247914	chr2:174111263-174111264	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532896288	chr2:174111274-174111275	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16861423	chr2:174111321-174111322	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35027856	chr2:174111325-174111326	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376974189	chr2:174111333-174111334	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560176575	chr2:174111377-174111378	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566550531	chr2:174111410-174111411	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7558967	chr2:174111412-174111413	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7559180	chr2:174111576-174111577	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143102274	chr2:174111580-174111581	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529679005	chr2:174111586-174111587	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113455661	chr2:174111588-174111589	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs538093819	chr2:174111610-174111611	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs548830190	chr2:174111702-174111703	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs567173730	chr2:174111743-174111744	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:44)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
2	chr2:174083400-174136400	Weak transcription	Esophagus	oesophagus
3	chr2:174083800-174119200	Weak transcription	HMEC	breast
4	chr2:174094800-174114600	Weak transcription	HUVEC	blood vessel
5	chr2:174096000-174128800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:174096200-174118200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:174096400-174112600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:174096600-174110800	Weak transcription	Small Intestine	intestine
9	chr2:174096600-174128800	Weak transcription	Pancreas	Pancrea
10	chr2:174096600-174130800	Weak transcription	Gastric	stomach
11	chr2:174098000-174128800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:174098000-174130600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:174098200-174124000	Weak transcription	NH-A	brain
14	chr2:174098400-174125600	Weak transcription	Right Ventricle	heart
15	chr2:174098800-174124000	Weak transcription	Dnd41	blood
16	chr2:174099000-174124000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:174099400-174123600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:174099600-174120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:174099600-174123400	Weak transcription	A549	lung
20	chr2:174099600-174134400	Weak transcription	Placenta	Placenta
21	chr2:174100400-174123400	Weak transcription	NHDF-Ad	bronchial
22	chr2:174100800-174113400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:174101600-174114000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:174101600-174119400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:174101600-174136400	Weak transcription	Hela-S3	cervix
26	chr2:174101800-174136200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:174102400-174115400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:174102800-174120800	Weak transcription	Fetal Stomach	stomach
29	chr2:174103600-174123400	Weak transcription	Osteobl	bone
30	chr2:174103800-174124000	Weak transcription	K562	blood
31	chr2:174103800-174129000	Weak transcription	Brain Hippocampus Middle	brain
32	chr2:174104000-174112600	Weak transcription	NHEK	skin
33	chr2:174104600-174117600	Weak transcription	Lung	lung
34	chr2:174105000-174133400	Weak transcription	NHLF	lung
35	chr2:174105000-174134400	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:174105200-174117800	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:174105200-174123800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:174105400-174112400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:174105600-174115000	Weak transcription	Fetal Lung	lung
40	chr2:174105600-174117800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:174105600-174123600	Weak transcription	Left Ventricle	heart
42	chr2:174105800-174124000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:174106200-174122600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:174106400-174112600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:174106400-174114600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:174106600-174124000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:174106600-174125200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:174106800-174111400	Weak transcription	Aorta	Aorta
49	chr2:174106800-174111400	Weak transcription	Fetal Intestine Large	intestine
50	chr2:174106800-174114600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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