Variant report

Variant	rs36048738
Chromosome Location	chr2:32207012-32207013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32205175..32207805-chr2:32210212..32212812,3	K562	blood:
2	chr2:32206318..32208970-chr2:32391722..32393852,2	K562	blood:
3	chr2:32201417..32203773-chr2:32204929..32208993,3	K562	blood:
4	chr2:32201417..32203517-chr2:32206018..32209549,4	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs1005460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1011309	0.86[ASN][1000 genomes]
rs10153899	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10490357	0.82[EUR][1000 genomes]
rs10490358	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490359	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11124273	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11884169	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11888094	0.81[EUR][1000 genomes]
rs11890763	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11893435	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11897154	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11898765	0.90[EUR][1000 genomes]
rs11899296	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11901415	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11903729	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12712325	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12988908	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12990358	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12992916	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12993413	0.93[EUR][1000 genomes]
rs12993808	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12994708	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12994869	0.86[EUR][1000 genomes]
rs12997171	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13003695	0.80[ASN][1000 genomes]
rs13005816	0.93[EUR][1000 genomes]
rs13006751	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13007025	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13013099	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13014501	0.83[EUR][1000 genomes]
rs13018592	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13021718	0.85[ASN][1000 genomes]
rs13022518	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13022696	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13022719	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13024535	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028676	0.93[EUR][1000 genomes]
rs13034714	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034933	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13409437	0.85[ASN][1000 genomes]
rs13414295	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1383023	0.82[EUR][1000 genomes]
rs160802	0.85[ASN][1000 genomes]
rs17011641	0.84[EUR][1000 genomes]
rs17011644	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17011673	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17011697	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17011710	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17011711	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17011721	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011722	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011740	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17011742	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17766509	0.80[EUR][1000 genomes]
rs17817607	0.80[EUR][1000 genomes]
rs17818002	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1808112	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2064814	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33998544	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34056419	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34077616	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34231321	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246971	0.80[EUR][1000 genomes]
rs34316760	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34321580	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34369001	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34432107	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34437462	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34457675	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs34460762	0.86[EUR][1000 genomes]
rs34492168	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34497289	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34540872	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34569213	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34617455	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34645083	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34738692	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34776070	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34805211	0.84[EUR][1000 genomes]
rs34897620	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34970173	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34973007	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35178826	0.85[ASN][1000 genomes]
rs35179884	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35262968	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35382589	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35397112	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35404750	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35502701	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35514510	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35631143	0.83[EUR][1000 genomes]
rs3754837	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769607	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3769614	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3795922	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56821465	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60954094	0.94[ASN][1000 genomes]
rs62142074	0.84[ASN][1000 genomes]
rs62142076	0.85[ASN][1000 genomes]
rs6543643	0.82[ASN][1000 genomes]
rs6543644	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6543645	0.89[ASN][1000 genomes]
rs66511526	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66522244	0.85[ASN][1000 genomes]
rs66735346	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66863308	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66949767	0.84[EUR][1000 genomes]
rs67048620	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6712798	0.83[EUR][1000 genomes]
rs6718407	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6721692	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6729580	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67335141	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733630	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6736930	0.93[EUR][1000 genomes]
rs6739654	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6746749	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67493880	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67517941	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67550529	0.83[ASN][1000 genomes]
rs67557317	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755740	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6761760	0.83[EUR][1000 genomes]
rs6761878	0.93[EUR][1000 genomes]
rs67780569	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67957236	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68039196	0.83[EUR][1000 genomes]
rs68051012	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs68076008	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71446027	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71446035	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71446042	0.83[EUR][1000 genomes]
rs72857279	0.82[EUR][1000 genomes]
rs72859088	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72860906	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72860941	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72860982	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72861000	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7559329	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7560472	0.91[EUR][1000 genomes]
rs7560714	0.91[EUR][1000 genomes]
rs7562388	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574910	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577579	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7587341	0.94[EUR][1000 genomes]
rs7591270	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7598154	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7601038	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7607030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7607225	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875167	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32212200	Weak transcription	Esophagus	oesophagus
2	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
3	chr2:32171000-32227600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:32185200-32209600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:32186600-32212200	Weak transcription	HMEC	breast
6	chr2:32186800-32208000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:32187000-32211400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:32187200-32212000	Weak transcription	Ovary	ovary
9	chr2:32187400-32210600	Weak transcription	Aorta	Aorta
10	chr2:32191600-32234200	Weak transcription	Lung	lung
11	chr2:32193600-32212200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:32193600-32212800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:32193800-32209400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:32195200-32210400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:32203800-32223000	Weak transcription	Spleen	Spleen
17	chr2:32205200-32207200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr2:32205200-32207800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:32205400-32207800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:32205400-32212800	Weak transcription	NH-A	brain
21	chr2:32205600-32217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:32206000-32211400	Weak transcription	Left Ventricle	heart
23	chr2:32206000-32212200	Weak transcription	NHDF-Ad	bronchial
24	chr2:32206000-32221200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:32206000-32223000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:32206200-32212000	Weak transcription	Osteobl	bone
27	chr2:32206400-32208800	Weak transcription	Fetal Thymus	thymus
28	chr2:32206400-32209000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:32206400-32209000	Weak transcription	Brain Substantia Nigra	brain
30	chr2:32206400-32210400	Weak transcription	Adipose Nuclei	Adipose
31	chr2:32206400-32211200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:32206400-32211200	Weak transcription	Psoas Muscle	Psoas
33	chr2:32206400-32212000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:32206400-32212000	Weak transcription	Right Atrium	heart
35	chr2:32206400-32212000	Weak transcription	HSMMtube	muscle
36	chr2:32206400-32214800	Weak transcription	Thymus	Thymus
37	chr2:32206400-32218200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:32206400-32221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:32206400-32222400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
41	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:32206600-32207200	Enhancers	GM12878-XiMat	blood
43	chr2:32206600-32208400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:32206600-32209000	Weak transcription	Fetal Heart	heart
45	chr2:32206600-32209000	Weak transcription	HepG2	liver
46	chr2:32206600-32209600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:32206600-32212000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:32206600-32212000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:32206600-32212000	Weak transcription	NHEK	skin
50	chr2:32206600-32212200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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