Variant report

Variant	rs1273728
Chromosome Location	chr6:121451095-121451096
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	chr6:119886303..119888450-chr6:121450603..121452607,2	K562	blood:

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10457412	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11154014	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs11965633	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12524806	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12525761	0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12526242	0.85[CEU][hapmap];0.92[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12527636	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12527842	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12527994	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12528443	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12529782	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1273706	0.89[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273718	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs1273720	0.84[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1273731	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273732	0.85[CEU][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs1273738	0.83[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273742	0.85[CEU][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273743	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1290678	0.92[EUR][1000 genomes]
rs1392863	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17083187	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1776817	0.89[ASW][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs1846865	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1891646	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[EUR][1000 genomes]
rs1995313	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs2138504	0.84[EUR][1000 genomes]
rs2138505	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs218867	1.00[CEU][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2203588	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2203589	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2358137	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3905223	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs391331	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4027128	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs407586	1.00[CEU][hapmap];0.80[MEX][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4245508	0.87[MEX][hapmap]
rs4412234	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes]
rs443149	1.00[CEU][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4461766	1.00[CEU][hapmap];0.80[JPT][hapmap]
rs4498397	0.85[CEU][hapmap]
rs450762	0.86[EUR][1000 genomes]
rs4601176	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4946535	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4946562	0.85[CEU][hapmap]
rs56139973	0.86[EUR][1000 genomes]
rs59805136	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60378317	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs624687	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6916050	0.81[AMR][1000 genomes]
rs6921681	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6926502	1.00[CEU][hapmap];0.80[JPT][hapmap];0.80[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs6931402	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6941235	0.85[CEU][hapmap]
rs73536420	0.90[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73536422	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73536428	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73536481	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73536482	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7450632	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7452947	0.87[MEX][hapmap]
rs7748115	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7751291	0.94[ASW][hapmap];0.85[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7756848	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7768058	1.00[CEU][hapmap];0.81[AMR][1000 genomes]
rs7769564	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7769807	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7771881	0.83[AMR][1000 genomes]
rs785395	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785399	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs884045	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9320791	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9372642	0.82[EUR][1000 genomes]
rs9375004	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9375022	1.00[CEU][hapmap]
rs9387920	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9387924	1.00[CEU][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9387929	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes]
rs9387939	0.83[CEU][hapmap]
rs9387942	1.00[CEU][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs9398622	1.00[CEU][hapmap];0.84[JPT][hapmap];0.84[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9398631	0.85[CEU][hapmap]
rs9401368	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9401372	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9401380	0.81[AMR][1000 genomes]
rs9482118	0.85[CEU][hapmap];0.83[AMR][1000 genomes]
rs9482119	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs953616	0.85[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs976611	1.00[CEU][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023384	chr6:121235867-121683448	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv530527	chr6:121298528-121789855	ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1812259	chr6:121404112-121451095	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121429600-121455600	Weak transcription	Brain Substantia Nigra	brain
2	chr6:121446800-121464600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:121447000-121455600	Weak transcription	Aorta	Aorta
4	chr6:121447000-121463200	Weak transcription	Ovary	ovary
5	chr6:121447200-121451400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr6:121447200-121451400	Weak transcription	Fetal Kidney	kidney
7	chr6:121447200-121451600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:121447200-121451600	Weak transcription	Placenta	Placenta
9	chr6:121447200-121451800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:121447200-121452600	Weak transcription	Brain Angular Gyrus	brain
11	chr6:121447200-121455400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:121447200-121455400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:121447200-121463000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:121447200-121463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:121447200-121465000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:121447200-121473800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr6:121447200-121474200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:121447200-121475000	Weak transcription	Primary B cells from cord blood	blood
19	chr6:121447400-121451600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr6:121447400-121451800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:121447400-121474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:121447600-121453400	Weak transcription	Dnd41	blood
23	chr6:121447600-121473200	Weak transcription	Primary T cells from cord blood	blood
24	chr6:121447800-121465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:121448200-121454600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:121451000-121453600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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