Variant report

Variant	rs2037814
Chromosome Location	chr2:73675669-73675670
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73672159..73673962-chr2:73674354..73675957,2	K562	blood:
2	chr2:73673350..73675381-chr2:73675662..73678567,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10165862	1.00[CHB][hapmap]
rs10190002	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[JPT][hapmap]
rs10192125	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10197233	0.84[EUR][1000 genomes]
rs10519309	0.93[ASN][1000 genomes]
rs1052161	0.87[JPT][hapmap]
rs1083920	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1083922	0.84[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs1083923	0.83[ASN][1000 genomes]
rs10865398	1.00[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap]
rs1091568	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11126399	1.00[CHB][hapmap]
rs11126407	0.85[EUR][1000 genomes]
rs11126408	0.84[EUR][1000 genomes]
rs11126409	0.83[EUR][1000 genomes]
rs11680056	0.84[EUR][1000 genomes]
rs11683970	0.86[EUR][1000 genomes]
rs11685372	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11689767	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12151671	0.85[EUR][1000 genomes]
rs1246096	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1246105	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12465867	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs12620569	0.85[EUR][1000 genomes]
rs12713783	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12995433	0.91[ASN][1000 genomes]
rs12996463	0.83[ASN][1000 genomes]
rs13007306	0.84[EUR][1000 genomes]
rs13007623	0.85[EUR][1000 genomes]
rs1320374	0.87[JPT][hapmap]
rs1403412	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1406105	0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1528169	0.80[ASN][1000 genomes]
rs17349804	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1852645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1852646	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1852647	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1879662	0.84[EUR][1000 genomes]
rs1879666	0.85[EUR][1000 genomes]
rs1881246	1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1881247	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881248	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2091503	0.86[ASN][1000 genomes]
rs2091504	0.88[ASN][1000 genomes]
rs2178154	0.95[ASN][1000 genomes]
rs2280506	1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs2280507	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs2421489	0.92[CHB][hapmap]
rs2421545	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs2421546	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2421548	0.91[ASN][1000 genomes]
rs2421589	0.81[EUR][1000 genomes]
rs2421590	0.85[EUR][1000 genomes]
rs2421660	0.85[EUR][1000 genomes]
rs2421662	0.85[EUR][1000 genomes]
rs2461691	0.85[EUR][1000 genomes]
rs28708576	0.82[EUR][1000 genomes]
rs2948441	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs2950770	0.95[EUR][1000 genomes]
rs34719281	0.85[EUR][1000 genomes]
rs3820700	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3980696	0.83[EUR][1000 genomes]
rs4241256	0.86[EUR][1000 genomes]
rs4436991	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4443018	0.84[EUR][1000 genomes]
rs4852305	1.00[CEU][hapmap];0.93[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4852309	0.83[EUR][1000 genomes]
rs4852310	0.85[EUR][1000 genomes]
rs4852311	0.90[CEU][hapmap]
rs4852927	0.91[ASN][1000 genomes]
rs4852936	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4852937	0.91[EUR][1000 genomes]
rs4852940	0.84[EUR][1000 genomes]
rs4852948	0.84[EUR][1000 genomes]
rs4852949	0.85[EUR][1000 genomes]
rs55677218	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56054150	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56068325	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56770679	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6546826	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6546827	0.92[CHB][hapmap]
rs6546829	1.00[CHB][hapmap]
rs6546830	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546831	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6546833	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6546842	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6546863	0.85[EUR][1000 genomes]
rs6546865	0.85[EUR][1000 genomes]
rs66931335	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6706235	1.00[CHB][hapmap]
rs6706409	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6710659	1.00[CHB][hapmap]
rs6729347	0.85[EUR][1000 genomes]
rs6730785	0.88[ASN][1000 genomes]
rs6732440	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6734450	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6744273	0.90[CEU][hapmap];0.84[EUR][1000 genomes]
rs6745560	0.84[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap]
rs6746458	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6746971	0.92[ASN][1000 genomes]
rs6747145	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs6748040	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs6749680	0.92[CHB][hapmap];0.91[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs6759464	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67877078	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67898050	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68154245	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72811907	0.89[ASN][1000 genomes]
rs72811933	0.81[ASN][1000 genomes]
rs72811939	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7570014	0.93[EUR][1000 genomes]
rs7574291	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs7576824	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs7585668	0.84[EUR][1000 genomes]
rs7598901	0.92[CHB][hapmap];0.97[CHD][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs7608308	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7609034	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs780388	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs780389	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs780390	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs780391	0.85[ASN][1000 genomes]
rs780393	0.86[ASN][1000 genomes]
rs780394	0.83[ASN][1000 genomes]
rs780395	0.83[ASN][1000 genomes]
rs780396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs802113	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447094	chr2:73675490-73676246	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2037814	DUSP11	cis	parietal	SCAN
rs2037814	ALMS1P	cis	parietal	SCAN
rs2037814	ALMS1P	cis	cerebellum	SCAN
rs2037814	DUSP11	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73637800-73676200	Weak transcription	Fetal Brain Male	brain
2	chr2:73645600-73676600	Weak transcription	NH-A	brain
3	chr2:73645600-73685600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:73647000-73684000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:73652000-73678400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:73652200-73688400	Weak transcription	Colonic Mucosa	Colon
7	chr2:73658400-73676600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:73660200-73684400	Weak transcription	HUVEC	blood vessel
9	chr2:73663600-73680600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:73663800-73689400	Weak transcription	NHDF-Ad	bronchial
11	chr2:73664400-73676000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:73664400-73678400	Weak transcription	K562	blood
13	chr2:73664400-73684200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:73664600-73676000	Weak transcription	GM12878-XiMat	blood
15	chr2:73664600-73683600	Weak transcription	A549	lung
16	chr2:73665000-73684400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:73665200-73682200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr2:73665400-73675800	Weak transcription	Fetal Lung	lung
19	chr2:73665400-73676200	Weak transcription	Fetal Heart	heart
20	chr2:73665400-73677200	Weak transcription	HSMMtube	muscle
21	chr2:73665600-73677200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:73665800-73675800	Weak transcription	Fetal Kidney	kidney
23	chr2:73667800-73679600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:73672400-73681200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:73673000-73687200	Weak transcription	NHEK	skin
26	chr2:73673200-73684600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:73673400-73678400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr2:73673400-73681000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:73673800-73677600	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:73673800-73679600	Strong transcription	Ovary	ovary
31	chr2:73673800-73681200	Strong transcription	Fetal Thymus	thymus
32	chr2:73674000-73676200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:73674000-73677800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:73674000-73677800	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr2:73674000-73679600	Strong transcription	Adipose Nuclei	Adipose
36	chr2:73674000-73681000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:73674000-73683800	Strong transcription	Dnd41	blood
38	chr2:73674200-73684200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:73674400-73676000	Strong transcription	Liver	Liver
40	chr2:73674400-73677800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:73674400-73683000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:73674600-73675800	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:73674600-73676200	Strong transcription	Gastric	stomach
44	chr2:73674600-73676600	Strong transcription	Esophagus	oesophagus
45	chr2:73674600-73677000	Strong transcription	Pancreas	Pancrea
46	chr2:73674600-73677000	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:73674600-73677000	Strong transcription	Hela-S3	cervix
48	chr2:73674600-73677400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:73674600-73677600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:73674600-73678200	Strong transcription	Aorta	Aorta

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