Variant report

Variant	rs60544326
Chromosome Location	chr4:99338148-99338149
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10001137	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10003496	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10006734	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10010260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10013248	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10015953	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017075	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017827	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10022073	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10025311	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10026222	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027925	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10029895	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10032785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10034649	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10050289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10212883	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1024127	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10470953	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12331722	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13353633	0.83[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]
rs17027393	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027526	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027538	0.83[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	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17027617	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28373747	1.00[EUR][1000 genomes]
rs28374939	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28407050	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28438716	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28446845	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28451188	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455818	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28459325	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28464398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472340	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28478192	0.83[AMR][1000 genomes]
rs28494643	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28503871	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28529663	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28558542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28564255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28589745	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28647503	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28649922	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28651612	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28664868	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28731135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786730	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28806635	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28807427	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28840158	0.83[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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275691	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41275693	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41525749	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55993060	0.87[EUR][1000 genomes]
rs56805018	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59725407	0.83[AMR][1000 genomes]
rs60281573	0.87[EUR][1000 genomes]
rs60638903	0.87[EUR][1000 genomes]
rs61485715	0.87[EUR][1000 genomes]
rs6831386	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6834495	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858042	0.83[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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834404	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834429	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834444	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834475	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834479	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73834489	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7656868	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7658383	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9307226	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991668	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9994467	0.83[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	0.94[AFR][1000 genomes];1.00[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:5 , 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	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
3	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
4	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
5	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99264200-99338200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:99288400-99342400	Weak transcription	A549	lung
3	chr4:99290600-99346000	Weak transcription	Fetal Lung	lung
4	chr4:99299400-99350800	Weak transcription	NHLF	lung
5	chr4:99299600-99338200	Weak transcription	NHDF-Ad	bronchial
6	chr4:99307000-99366200	Weak transcription	Fetal Brain Male	brain
7	chr4:99308600-99363200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:99312000-99355400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:99317600-99342200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:99317800-99342800	Weak transcription	HSMMtube	muscle
11	chr4:99319200-99341800	Weak transcription	HMEC	breast
12	chr4:99325800-99367000	Weak transcription	Right Ventricle	heart
13	chr4:99326400-99342200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:99327800-99355400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:99330800-99342200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:99333400-99342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:99333800-99342200	Weak transcription	Brain Anterior Caudate	brain
18	chr4:99334000-99339000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr4:99334000-99339800	Weak transcription	Fetal Stomach	stomach
20	chr4:99334000-99342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:99334000-99355000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr4:99334200-99338400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:99334200-99338800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:99334200-99339200	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:99334200-99339800	Weak transcription	Ovary	ovary
26	chr4:99334200-99339800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:99334200-99340000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:99334200-99342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:99334200-99342000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:99334200-99342200	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:99334200-99342200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:99334200-99342400	Weak transcription	Pancreas	Pancrea
33	chr4:99334200-99342400	Weak transcription	GM12878-XiMat	blood
34	chr4:99334200-99345000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr4:99334200-99350800	Weak transcription	NHEK	skin
36	chr4:99334200-99355200	Weak transcription	Fetal Kidney	kidney
37	chr4:99334200-99355800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:99334400-99338200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:99334400-99338200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:99334400-99338200	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:99334400-99338600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr4:99334400-99338800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:99334400-99338800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:99334400-99339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:99334400-99340000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:99334400-99340000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:99334400-99340000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr4:99334400-99340200	Weak transcription	Left Ventricle	heart
49	chr4:99334400-99341200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr4:99334400-99341600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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