Variant report

Variant	rs28807427
Chromosome Location	chr4:99220820-99220821
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10001137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003061	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003496	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10006734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10013248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10015953	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017827	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10022073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025311	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026222	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10032785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10034649	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10212883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1024127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10470953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12331722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13353633	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16996571	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027340	0.87[EUR][1000 genomes]
rs17027388	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs17027393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027538	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027559	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027596	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027597	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027617	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373747	1.00[EUR][1000 genomes]
rs28374939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28407050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28446845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455818	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464398	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478192	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28494643	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28497963	0.91[AMR][1000 genomes]
rs28503871	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529663	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28558542	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564255	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589745	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647503	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28649922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651612	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28664868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28705201	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs28731135	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786730	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28806635	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28840158	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28882140	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28883979	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28893208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275691	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525749	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55993060	0.87[EUR][1000 genomes]
rs56805018	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59725407	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60281573	0.87[EUR][1000 genomes]
rs60544326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60638903	0.87[EUR][1000 genomes]
rs61485715	0.87[EUR][1000 genomes]
rs6831386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858042	1.00[AMR][1000 genomes]
rs73832142	0.87[EUR][1000 genomes]
rs73832145	0.87[EUR][1000 genomes]
rs73832149	0.87[EUR][1000 genomes]
rs73832156	0.87[EUR][1000 genomes]
rs73832317	1.00[EUR][1000 genomes]
rs73834403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834404	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834429	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834475	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834479	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7655622	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7656868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9307226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9994467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995184	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997337	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9997973	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9998801	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9999779	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1001570	chr4:98976239-99239838	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv528127	chr4:99146436-99229839	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv879653	chr4:99152631-99260423	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:99184000-99239600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr4:99184200-99242200	Weak transcription	A549	lung
3	chr4:99185400-99239400	Weak transcription	NHEK	skin
4	chr4:99204800-99226600	Weak transcription	Colon Smooth Muscle	Colon
5	chr4:99206000-99234800	Weak transcription	Pancreas	Pancrea
6	chr4:99206200-99229000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:99206200-99232800	Weak transcription	Gastric	stomach
8	chr4:99206200-99234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr4:99206200-99239800	Weak transcription	Aorta	Aorta
10	chr4:99206800-99223600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:99208800-99222800	Weak transcription	Adipose Nuclei	Adipose
12	chr4:99210200-99250800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:99210600-99222200	Weak transcription	Fetal Intestine Small	intestine
14	chr4:99210600-99222600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:99210600-99223600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr4:99210800-99222800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:99211200-99226600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:99211400-99223400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr4:99211400-99226000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:99211800-99222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:99212400-99239800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
23	chr4:99212800-99221400	Weak transcription	Fetal Intestine Large	intestine
24	chr4:99213000-99221400	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:99213200-99222200	Weak transcription	Fetal Lung	lung
26	chr4:99213400-99229200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:99213600-99221200	Weak transcription	Ovary	ovary
28	chr4:99214200-99240800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr4:99214400-99222000	Strong transcription	Dnd41	blood
30	chr4:99214600-99221400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:99214800-99222800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:99215000-99221200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:99215000-99222600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr4:99215000-99223200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:99215000-99235400	Weak transcription	HSMMtube	muscle
36	chr4:99215000-99235600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
38	chr4:99215400-99222400	Weak transcription	Primary B cells from cord blood	blood
39	chr4:99215400-99222400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr4:99216000-99224800	Weak transcription	Brain Anterior Caudate	brain
41	chr4:99216200-99226600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:99216600-99226800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr4:99216800-99222000	Weak transcription	Hela-S3	cervix
44	chr4:99216800-99222400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:99216800-99223200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:99216800-99223600	Weak transcription	Liver	Liver
47	chr4:99216800-99227800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr4:99216800-99236000	Weak transcription	HUVEC	blood vessel
49	chr4:99216800-99236000	Weak transcription	NH-A	brain
50	chr4:99216800-99236000	Weak transcription	NHDF-Ad	bronchial

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