Variant report

Variant	rs1850520
Chromosome Location	chr4:48649693-48649694
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	chr4:48648727..48651631-chr4:48674696..48676832,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10517225	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727472	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498166	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12506770	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508327	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12509766	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13110719	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13134960	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1565218	0.91[ASN][1000 genomes]
rs16861344	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16861347	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1702795	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs1702800	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1712762	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	1.00[ASN][1000 genomes]
rs17609761	1.00[ASN][1000 genomes]
rs17656189	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656212	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.93[AMR][1000 genomes]
rs28581223	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2945331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235156	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695388	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55730515	0.91[ASN][1000 genomes]
rs55884608	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986500	0.91[ASN][1000 genomes]
rs57893769	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447646	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447648	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6825104	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.91[ASN][1000 genomes]
rs707719	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814762	0.91[ASN][1000 genomes]
rs73814763	0.91[ASN][1000 genomes]
rs73814782	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814798	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817807	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817808	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817809	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817826	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817827	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690681	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.91[ASN][1000 genomes]
rs7695730	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776582	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776597	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776598	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
3	chr4:48627200-48652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
5	chr4:48635200-48654000	Weak transcription	Fetal Intestine Large	intestine
6	chr4:48635200-48655000	Weak transcription	Dnd41	blood
7	chr4:48637600-48656400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:48637800-48652400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:48637800-48653400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:48638000-48651600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr4:48638000-48653800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:48638000-48655400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:48638000-48655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:48638000-48657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr4:48638600-48652400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:48638600-48655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
22	chr4:48639400-48653400	Weak transcription	HMEC	breast
23	chr4:48639600-48652200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:48642200-48654800	Weak transcription	Stomach Mucosa	stomach
25	chr4:48643000-48655200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:48643200-48655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:48643400-48652400	Weak transcription	Primary T cells from cord blood	blood
28	chr4:48644000-48655600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:48645000-48652600	Weak transcription	Aorta	Aorta
30	chr4:48645000-48653800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:48645200-48652400	Weak transcription	HSMM	muscle
32	chr4:48645200-48679400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr4:48645400-48649800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr4:48645400-48650400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:48645400-48651000	Weak transcription	Fetal Kidney	kidney
36	chr4:48645400-48651400	Weak transcription	Brain Anterior Caudate	brain
37	chr4:48645400-48651600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:48645400-48651600	Weak transcription	Fetal Lung	lung
39	chr4:48645400-48651600	Weak transcription	Pancreas	Pancrea
40	chr4:48645400-48652600	Weak transcription	Left Ventricle	heart
41	chr4:48645400-48652600	Weak transcription	Ovary	ovary
42	chr4:48645400-48652600	Weak transcription	Right Ventricle	heart
43	chr4:48645400-48652600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:48645400-48653600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr4:48645400-48654000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr4:48645400-48655200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:48645400-48655200	Weak transcription	NH-A	brain
48	chr4:48645400-48655400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr4:48645400-48655400	Weak transcription	NHLF	lung
50	chr4:48645400-48655800	Weak transcription	Lung	lung

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