Variant report

Variant	rs776597
Chromosome Location	chr4:48643392-48643393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48641539..48643469-chr4:48646667..48648214,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10517225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10938540	0.86[ASW][hapmap];1.00[MKK][hapmap]
rs11727472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12498166	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12505376	0.81[ASN][1000 genomes]
rs12506770	1.00[ASN][1000 genomes]
rs12508327	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12509766	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[ASN][1000 genomes]
rs13110719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13134960	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1517675	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs1565218	0.91[ASN][1000 genomes]
rs16861344	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16861347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1702795	0.93[AMR][1000 genomes]
rs1702800	1.00[ASW][hapmap];0.90[LWK][hapmap];0.92[MKK][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1712762	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17609740	1.00[ASN][1000 genomes]
rs17609761	1.00[ASN][1000 genomes]
rs17656189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17656212	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17656255	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1814784	0.90[AMR][1000 genomes]
rs1850520	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304387	1.00[CHB][hapmap];1.00[GIH][hapmap];0.85[TSI][hapmap]
rs28581223	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2945331	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3107023	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4235156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4610307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4695388	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4695389	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55730515	0.91[ASN][1000 genomes]
rs55884608	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55986500	0.91[ASN][1000 genomes]
rs57893769	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6447646	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6447648	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6825104	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6852840	0.91[ASN][1000 genomes]
rs707719	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73814762	0.91[ASN][1000 genomes]
rs73814763	0.91[ASN][1000 genomes]
rs73814782	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73814798	1.00[ASN][1000 genomes]
rs73817807	1.00[ASN][1000 genomes]
rs73817808	1.00[ASN][1000 genomes]
rs73817809	1.00[ASN][1000 genomes]
rs73817826	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73817827	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7436127	0.86[ASW][hapmap];1.00[MKK][hapmap]
rs7667909	0.85[MKK][hapmap]
rs7690681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7693468	0.91[ASN][1000 genomes]
rs7695730	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7695813	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs776581	0.84[ASW][hapmap]
rs776582	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs776586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776593	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776594	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776596	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs776598	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs776599	0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs938790	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48588400-48644600	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:48597800-48644600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:48606800-48645000	Weak transcription	Gastric	stomach
4	chr4:48620200-48644800	Weak transcription	Fetal Stomach	stomach
5	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
6	chr4:48621800-48645000	Weak transcription	Lung	lung
7	chr4:48621800-48655800	Weak transcription	Colonic Mucosa	Colon
8	chr4:48622800-48644800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:48622800-48648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr4:48623400-48644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:48627200-48645000	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:48627200-48652400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:48627200-48656400	Weak transcription	Fetal Intestine Small	intestine
14	chr4:48632200-48644800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:48635200-48644800	Weak transcription	Aorta	Aorta
16	chr4:48635200-48654000	Weak transcription	Fetal Intestine Large	intestine
17	chr4:48635200-48655000	Weak transcription	Dnd41	blood
18	chr4:48637600-48656400	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:48637800-48643400	Weak transcription	Psoas Muscle	Psoas
20	chr4:48637800-48643600	Weak transcription	HSMM	muscle
21	chr4:48637800-48644800	Weak transcription	Small Intestine	intestine
22	chr4:48637800-48644800	Weak transcription	NHLF	lung
23	chr4:48637800-48645000	Weak transcription	Left Ventricle	heart
24	chr4:48637800-48652400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:48637800-48653400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:48637800-48664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr4:48638000-48647200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:48638000-48651600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr4:48638000-48653800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:48638000-48655400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:48638000-48655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:48638000-48657200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr4:48638000-48663000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr4:48638000-48664600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr4:48638400-48645000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:48638600-48652400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:48638600-48655400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:48638600-48666000	Weak transcription	Primary B cells from cord blood	blood
40	chr4:48639400-48653400	Weak transcription	HMEC	breast
41	chr4:48639600-48647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:48639600-48652200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:48641200-48643600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr4:48641400-48643800	Enhancers	Brain Angular Gyrus	brain
45	chr4:48641600-48645400	Enhancers	Brain Cingulate Gyrus	brain
46	chr4:48641800-48643800	Enhancers	Brain Anterior Caudate	brain
47	chr4:48642000-48643800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:48642000-48643800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:48642000-48643800	Enhancers	Ovary	ovary
50	chr4:48642000-48644400	Enhancers	Brain Hippocampus Middle	brain

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