Variant report

Variant	rs2297595
Chromosome Location	chr1:98165091-98165092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 117 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1013810	1.00[ASN][1000 genomes]
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];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs11165908	1.00[CHB][hapmap]
rs12070513	1.00[ASN][1000 genomes]
rs12073839	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12406000	1.00[CHB][hapmap]
rs12565244	1.00[CHB][hapmap]
rs12739159	1.00[CHB][hapmap]
rs1333717	1.00[CHB][hapmap]
rs13375275	1.00[ASN][1000 genomes]
rs13375516	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs17368985	1.00[CHD][hapmap]
rs17369919	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs17378455	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap]
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	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2248658	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2485437	1.00[ASN][1000 genomes]
rs2786490	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2786498	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2786500	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs2786501	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs2786503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2786504	1.00[ASN][1000 genomes]
rs2786505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2786509	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786543	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs2786544	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811194	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811195	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811196	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs2811197	1.00[ASN][1000 genomes]
rs2811198	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811199	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811200	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811201	1.00[ASN][1000 genomes]
rs2811202	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811203	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811209	1.00[ASN][1000 genomes]
rs2811210	1.00[ASN][1000 genomes]
rs2811214	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs2811215	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3790386	1.00[ASN][1000 genomes]
rs3790387	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4246514	1.00[CHD][hapmap]
rs4304627	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap]
rs4329543	1.00[CHB][hapmap]
rs4537601	1.00[CHB][hapmap]
rs4970728	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap]
rs56293913	1.00[ASN][1000 genomes]
rs61789253	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61789254	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61789255	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61789256	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61789257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789258	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790060	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61790061	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61790063	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790064	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790065	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790066	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6663670	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6668296	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675325	1.00[CHB][hapmap]
rs6676451	1.00[CHB][hapmap]
rs6683957	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap]
rs6685266	1.00[CHB][hapmap]
rs6703307	1.00[CHB][hapmap]
rs67086927	1.00[ASN][1000 genomes]
rs72732387	1.00[ASN][1000 genomes]
rs72732395	1.00[ASN][1000 genomes]
rs72732396	1.00[ASN][1000 genomes]
rs72732398	1.00[ASN][1000 genomes]
rs72975761	1.00[ASN][1000 genomes]
rs72975763	1.00[ASN][1000 genomes]
rs72975765	1.00[ASN][1000 genomes]
rs72975785	1.00[ASN][1000 genomes]
rs72975790	1.00[ASN][1000 genomes]
rs72975796	1.00[ASN][1000 genomes]
rs72977714	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977716	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977720	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72977723	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7512910	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7527085	1.00[CHB][hapmap]

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	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	nsv2010	chr1:98123116-98167426	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	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
8	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
9	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
10	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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98130800-98171800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:98136200-98188800	Weak transcription	Left Ventricle	heart
3	chr1:98141600-98165800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:98141800-98166000	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:98141800-98185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:98143600-98165800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:98144000-98165400	Weak transcription	Brain Substantia Nigra	brain
8	chr1:98144000-98176600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:98144200-98165800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:98144200-98166800	Weak transcription	Osteobl	bone
11	chr1:98146000-98165400	Weak transcription	HMEC	breast
12	chr1:98146400-98166800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:98146800-98166000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:98148000-98192800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:98152400-98166000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:98152600-98165800	Weak transcription	NHLF	lung
17	chr1:98153400-98187800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:98153600-98165200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:98153600-98165200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:98153600-98165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:98153600-98167000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:98153600-98167600	Weak transcription	Ovary	ovary
23	chr1:98155200-98167400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:98157200-98175800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:98157400-98168600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:98157600-98165200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:98159800-98165200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:98160000-98167000	Weak transcription	NHDF-Ad	bronchial
29	chr1:98160200-98183200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:98160400-98182800	Weak transcription	Primary B cells from cord blood	blood
31	chr1:98163200-98185400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:98164400-98166000	Strong transcription	Liver	Liver
33	chr1:98164800-98165200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:98164800-98165600	Strong transcription	Dnd41	blood
35	chr1:98164800-98165800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:98165000-98166200	Strong transcription	HSMM	muscle

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