Variant report

Variant	rs7512910
Chromosome Location	chr1:98106812-98106813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

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]
rs10783069	0.89[CEU][hapmap]
rs10783070	0.82[EUR][1000 genomes]
rs10875098	0.88[CEU][hapmap]
rs10875099	0.89[CEU][hapmap]
rs10875100	0.82[EUR][1000 genomes]
rs10875105	1.00[CHB][hapmap]
rs11165895	0.89[CEU][hapmap]
rs11165897	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122032	0.89[CEU][hapmap]
rs12406000	1.00[CHB][hapmap]
rs12565244	1.00[CHB][hapmap]
rs12739159	1.00[CHB][hapmap]
rs1333717	1.00[CHB][hapmap]
rs1337521	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs1337522	0.82[EUR][1000 genomes]
rs1337523	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs13375275	0.89[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13375516	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376084	1.00[CHB][hapmap]
rs17369919	1.00[CHB][hapmap]
rs17378455	1.00[CHB][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]
rs2065943	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs2151563	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2248658	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2297595	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2485437	1.00[ASN][1000 genomes]
rs2786490	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2786498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786500	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2786501	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2786503	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786504	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2786505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2786509	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2786543	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2786544	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811193	0.83[EUR][1000 genomes]
rs2811194	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811195	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811196	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2811197	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811198	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811200	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811201	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811202	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811203	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811209	1.00[ASN][1000 genomes]
rs2811210	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811214	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2811215	1.00[CHB][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3790386	1.00[ASN][1000 genomes]
rs3790387	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3790389	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304627	1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs4329543	1.00[CHB][hapmap]
rs4537601	1.00[CHB][hapmap]
rs4949958	0.88[CEU][hapmap]
rs4970728	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs55684412	0.84[EUR][1000 genomes]
rs56293913	1.00[ASN][1000 genomes]
rs61789253	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789254	1.00[ASN][1000 genomes]
rs61789255	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789256	1.00[ASN][1000 genomes]
rs61789257	1.00[ASN][1000 genomes]
rs61789258	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61789259	1.00[ASN][1000 genomes]
rs61790060	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790061	1.00[ASN][1000 genomes]
rs61790063	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61790064	1.00[ASN][1000 genomes]
rs61790065	1.00[ASN][1000 genomes]
rs6663670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675325	1.00[CHB][hapmap]
rs6676451	1.00[CHB][hapmap]
rs6683957	1.00[CHB][hapmap]
rs6685266	1.00[CHB][hapmap]
rs6703307	1.00[CHB][hapmap]
rs67086927	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];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	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975763	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975765	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975785	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975790	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72975796	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977714	1.00[ASN][1000 genomes]
rs72977716	1.00[ASN][1000 genomes]
rs72977720	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72977723	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527085	1.00[CHB][hapmap]
rs7537165	0.89[CEU][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv546867	chr1:98084369-98111930	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv3353832	chr1:98106370-98106924	Weak transcription Enhancers Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98009800-98112200	Weak transcription	HSMM	muscle
2	chr1:98063000-98111400	Weak transcription	Liver	Liver
3	chr1:98087400-98111400	Weak transcription	Dnd41	blood
4	chr1:98087800-98143600	Weak transcription	Ovary	ovary
5	chr1:98088800-98109600	Weak transcription	Psoas Muscle	Psoas
6	chr1:98095800-98112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr1:98097000-98110200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:98097000-98111800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:98097000-98115600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:98097000-98119200	Weak transcription	Left Ventricle	heart
11	chr1:98098400-98113200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:98098400-98113400	Weak transcription	Osteobl	bone
13	chr1:98098400-98114000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:98099600-98112200	Weak transcription	Primary B cells from cord blood	blood
15	chr1:98101000-98112200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:98101200-98112200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:98101800-98112200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:98103800-98112200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:98104600-98110000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:98104600-98111200	Weak transcription	Primary T cells from cord blood	blood
21	chr1:98106000-98107000	Enhancers	Hela-S3	cervix
22	chr1:98106400-98111000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:98106800-98110800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:98106800-98113400	Weak transcription	NHDF-Ad	bronchial

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