Variant report

Variant	rs4601176
Chromosome Location	chr6:121496010-121496011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:121490346..121493740-chr6:121494679..121497011,3	K562	blood:
2	chr6:121495458..121497370-chr6:121499505..121502108,2	MCF-7	breast:
3	chr6:121490346..121492777-chr6:121495275..121497722,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10457412	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11154014	0.83[EUR][1000 genomes]
rs12527842	0.82[EUR][1000 genomes]
rs12527994	0.82[EUR][1000 genomes]
rs12528443	0.82[EUR][1000 genomes]
rs1273706	0.82[EUR][1000 genomes]
rs1273718	0.81[EUR][1000 genomes]
rs1273720	0.82[EUR][1000 genomes]
rs1273724	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1273728	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1273731	0.82[EUR][1000 genomes]
rs1273738	0.82[EUR][1000 genomes]
rs1273742	0.82[EUR][1000 genomes]
rs1273743	0.82[EUR][1000 genomes]
rs1273746	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1290678	0.87[EUR][1000 genomes]
rs1392863	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1604278	0.84[AFR][1000 genomes]
rs17083187	0.82[EUR][1000 genomes]
rs1846865	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1846866	0.87[AFR][1000 genomes]
rs1891646	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1995313	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2088832	0.82[AMR][1000 genomes]
rs218867	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2202066	0.84[AFR][1000 genomes]
rs391331	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3956400	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4027128	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs407586	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4321860	0.84[AFR][1000 genomes]
rs4412234	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4412244	0.83[EUR][1000 genomes]
rs443149	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4461766	0.83[EUR][1000 genomes]
rs4498397	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs450762	0.81[EUR][1000 genomes]
rs4946535	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4946547	0.87[AFR][1000 genomes]
rs59805136	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs624687	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6569174	0.92[AFR][1000 genomes]
rs6569178	0.83[AMR][1000 genomes]
rs6569197	0.83[EUR][1000 genomes]
rs6916050	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6919890	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6921681	0.82[EUR][1000 genomes]
rs6926502	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6928060	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6931402	0.82[EUR][1000 genomes]
rs6941235	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73536481	0.82[EUR][1000 genomes]
rs73536482	0.82[EUR][1000 genomes]
rs7450632	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7751291	0.82[EUR][1000 genomes]
rs7756848	0.81[EUR][1000 genomes]
rs7768058	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7771881	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs785395	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs884045	0.82[EUR][1000 genomes]
rs9320791	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9372641	0.94[AFR][1000 genomes]
rs9372642	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs9372645	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9375004	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9375007	0.87[AFR][1000 genomes]
rs9375013	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9375022	0.83[EUR][1000 genomes]
rs9385193	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9387920	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9387922	0.92[AFR][1000 genomes]
rs9387924	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9387929	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9387939	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9387942	0.83[EUR][1000 genomes]
rs9398622	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9401368	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9401372	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9401373	0.87[AFR][1000 genomes]
rs9401378	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9401380	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9401382	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9482118	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9482119	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs953616	0.82[EUR][1000 genomes]
rs976611	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][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	nsv604572	chr6:121465011-121544876	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121473400-121499000	Weak transcription	Right Ventricle	heart
2	chr6:121474600-121508600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:121475600-121508600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:121478800-121535400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr6:121479000-121505000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:121479200-121502600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr6:121479600-121501400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:121480200-121502400	Weak transcription	Left Ventricle	heart
9	chr6:121480200-121504600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:121480200-121535600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:121480400-121505400	Weak transcription	Adipose Nuclei	Adipose
12	chr6:121480600-121501000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:121480600-121502200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:121480800-121498600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:121480800-121499200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:121480800-121535400	Weak transcription	Fetal Intestine Large	intestine
17	chr6:121481000-121502600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr6:121481000-121535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:121482200-121499200	Weak transcription	Dnd41	blood
20	chr6:121482200-121499400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr6:121482800-121498400	Weak transcription	Ovary	ovary
22	chr6:121482800-121499200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:121483800-121498200	Weak transcription	Primary T cells from cord blood	blood
24	chr6:121487400-121556000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:121494600-121516600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:121495200-121502200	Weak transcription	Brain Substantia Nigra	brain
27	chr6:121495200-121529400	Weak transcription	Primary B cells from cord blood	blood
28	chr6:121495800-121496800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:121496000-121496200	Enhancers	Gastric	stomach

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