Variant report

Variant	rs10197121
Chromosome Location	chr2:10293689-10293690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10292318..10295172-chr2:10445381..10448141,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10172702	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10179663	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10179866	0.83[AMR][1000 genomes]
rs10192090	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10202672	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10209383	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10754955	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1130609	0.81[JPT][hapmap]
rs11896140	0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12692399	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12987867	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13009708	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13010608	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13028656	0.83[ASN][1000 genomes]
rs13398833	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13420725	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16855510	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2110641	0.85[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2110642	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2160190	0.94[CEU][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2241113	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357465	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357466	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2357467	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4668664	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs4669531	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432064	0.81[JPT][hapmap]
rs6432066	0.94[CEU][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432067	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432068	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432069	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6432070	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706570	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6707144	0.89[CEU][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6707406	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6709408	0.89[ASN][1000 genomes]
rs6715077	0.91[ASN][1000 genomes]
rs6749325	0.91[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6758411	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6759180	0.81[JPT][hapmap]
rs717886	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs718215	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs729917	0.81[CEU][hapmap];0.81[JPT][hapmap]
rs7420698	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7566175	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7605457	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10269600-10299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:10271400-10303800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:10273800-10330400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:10274000-10299200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:10276400-10307400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:10276600-10301800	Weak transcription	Osteobl	bone
7	chr2:10277600-10321600	Weak transcription	K562	blood
8	chr2:10277800-10295400	Weak transcription	Hela-S3	cervix
9	chr2:10278000-10302200	Weak transcription	HSMM	muscle
10	chr2:10278000-10311800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:10279600-10295600	Weak transcription	Fetal Brain Female	brain
12	chr2:10281000-10294200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:10282200-10316600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:10284400-10299400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:10284600-10295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:10285000-10299400	Weak transcription	Fetal Lung	lung
17	chr2:10285200-10299800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:10285400-10302000	Weak transcription	HMEC	breast
19	chr2:10285600-10307400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:10285800-10310400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:10286200-10299600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:10286400-10296000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:10286400-10301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:10286400-10331400	Weak transcription	Spleen	Spleen
25	chr2:10286600-10304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:10286800-10295800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:10286800-10296000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:10286800-10299400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:10286800-10312400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:10287000-10295600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:10287000-10298200	Weak transcription	GM12878-XiMat	blood
32	chr2:10287000-10301800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:10287000-10303800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:10287000-10312000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:10287800-10295600	Weak transcription	Fetal Intestine Small	intestine
36	chr2:10287800-10295800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:10288400-10307600	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:10290000-10295200	Weak transcription	HepG2	liver
39	chr2:10290200-10295400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:10290200-10295400	Weak transcription	Fetal Stomach	stomach
41	chr2:10290200-10295600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:10290200-10295800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:10290200-10296600	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:10290200-10298400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:10290200-10299200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:10290200-10299600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:10290200-10300400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:10290200-10351400	Strong transcription	Dnd41	blood
49	chr2:10290400-10295400	Weak transcription	Thymus	Thymus
50	chr2:10291400-10293800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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