Variant report

Variant	rs4304627
Chromosome Location	chr1:98187755-98187756
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10157611	1.00[CHB][hapmap]
rs1023245	1.00[CHB][hapmap]
rs1034215	1.00[CHB][hapmap]
rs1034216	1.00[CHB][hapmap]
rs1034217	1.00[CHB][hapmap]
rs10493894	1.00[CHB][hapmap]
rs10493895	1.00[CHB][hapmap]
rs10493896	1.00[CHB][hapmap]
rs10747485	1.00[CHB][hapmap]
rs10747486	1.00[CHB][hapmap]
rs10747487	1.00[CHB][hapmap]
rs10875105	1.00[CHB][hapmap]
rs11165897	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs11165908	1.00[CHB][hapmap]
rs12073839	1.00[CHB][hapmap]
rs12406000	1.00[CHB][hapmap]
rs12565244	1.00[CHB][hapmap]
rs12739159	1.00[CHB][hapmap]
rs1333717	1.00[CHB][hapmap]
rs13375275	0.81[EUR][1000 genomes]
rs13375516	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs17368985	1.00[CHD][hapmap]
rs17369919	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17378455	1.00[CHB][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs17378671	1.00[CHB][hapmap]
rs17379095	1.00[CHB][hapmap]
rs1931063	1.00[CHB][hapmap]
rs1931064	1.00[CHB][hapmap]
rs1931066	1.00[CHB][hapmap]
rs1974203	1.00[CHB][hapmap]
rs1974204	1.00[CHB][hapmap]
rs2151563	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs2248658	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2297595	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs2786490	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2786498	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2786500	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2786501	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap];1.00[ASN][1000 genomes]
rs2786503	1.00[CHB][hapmap];0.90[MEX][hapmap]
rs2786505	1.00[CHB][hapmap];0.90[MEX][hapmap]
rs2786509	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs2786543	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap]
rs2786544	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811194	1.00[CHB][hapmap]
rs2811195	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811196	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811198	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811199	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811200	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811202	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[MEX][hapmap]
rs2811214	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[MEX][hapmap]
rs2811215	1.00[CHB][hapmap]
rs3790387	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs3790389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs4246514	1.00[CHD][hapmap]
rs4329543	1.00[CHB][hapmap]
rs4537601	1.00[CHB][hapmap]
rs4970728	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55684412	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56012174	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58626076	1.00[ASN][1000 genomes]
rs61033129	1.00[ASN][1000 genomes]
rs61786599	1.00[ASN][1000 genomes]
rs61789253	0.87[EUR][1000 genomes]
rs61789255	0.87[EUR][1000 genomes]
rs61789258	0.88[EUR][1000 genomes]
rs61790060	0.87[EUR][1000 genomes]
rs61790063	0.91[EUR][1000 genomes]
rs61790066	1.00[ASN][1000 genomes]
rs6663670	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs6668296	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs6675325	1.00[CHB][hapmap]
rs6676451	1.00[CHB][hapmap]
rs6683957	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];0.86[LWK][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs6685266	1.00[CHB][hapmap]
rs6703307	1.00[CHB][hapmap]
rs67086927	0.81[EUR][1000 genomes]
rs72975761	0.81[EUR][1000 genomes]
rs72975763	0.82[EUR][1000 genomes]
rs72975765	0.81[EUR][1000 genomes]
rs72975785	0.81[EUR][1000 genomes]
rs72975790	0.81[EUR][1000 genomes]
rs72975796	0.86[EUR][1000 genomes]
rs72977720	0.91[EUR][1000 genomes]
rs72977723	0.91[EUR][1000 genomes]
rs74105295	1.00[ASN][1000 genomes]
rs74105298	1.00[ASN][1000 genomes]
rs74105299	1.00[ASN][1000 genomes]
rs74105301	1.00[ASN][1000 genomes]
rs74105302	1.00[ASN][1000 genomes]
rs74108303	1.00[ASN][1000 genomes]
rs74108304	1.00[ASN][1000 genomes]
rs74108305	1.00[ASN][1000 genomes]
rs7512910	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs7527085	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491816	chr1:97266403-98223619	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv533039	chr1:97665736-98343102	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv830714	chr1:98025090-98229416	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv871740	chr1:98165091-98322379	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv871472	chr1:98165091-98342417	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv870596	chr1:98165091-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
10	nsv546868	chr1:98175878-98194845	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region miRNA target site	1 gene(s)	inside rSNPs	diseases
11	nsv871050	chr1:98187755-98365310	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98136200-98188800	Weak transcription	Left Ventricle	heart
2	chr1:98148000-98192800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:98153400-98187800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:98176400-98188200	Weak transcription	Right Ventricle	heart
5	chr1:98177000-98188200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:98177200-98254600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:98179000-98188000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:98179000-98220800	Weak transcription	Psoas Muscle	Psoas
9	chr1:98181200-98188600	Weak transcription	Lung	lung
10	chr1:98181400-98204400	Weak transcription	Osteobl	bone
11	chr1:98181600-98188600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:98183600-98189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:98183600-98279600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:98183800-98189200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:98184000-98188400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:98184200-98188600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:98184400-98188600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:98185600-98187800	Weak transcription	HMEC	breast
19	chr1:98186200-98220200	Weak transcription	Primary T cells from cord blood	blood
20	chr1:98186600-98188800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:98186800-98188600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:98187000-98188400	Weak transcription	Adipose Nuclei	Adipose
23	chr1:98187000-98192800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:98187200-98187800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:98187200-98188800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:98187200-98189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:98187200-98189800	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:98187200-98189800	Weak transcription	Dnd41	blood
29	chr1:98187200-98190200	Weak transcription	HSMMtube	muscle
30	chr1:98187200-98203000	Weak transcription	Liver	Liver
31	chr1:98187200-98206000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr1:98187200-98207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:98187200-98208400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:98187200-98217200	Weak transcription	Primary B cells from cord blood	blood
35	chr1:98187200-98243400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:98187400-98188800	Weak transcription	HSMM	muscle
37	chr1:98187400-98193000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr1:98187400-98203800	Weak transcription	Primary monocytes fromperipheralblood	blood

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