Variant report

Variant	rs785395
Chromosome Location	chr6:121448796-121448797
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	chr6:121447900..121449925-chr6:121452116..121453757,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10457412	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
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	0.92[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	0.98[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]
rs1273728	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	0.86[AFR][1000 genomes]
rs1273738	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273742	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273743	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1273746	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	0.91[AFR][1000 genomes]
rs1846865	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1891646	0.81[EUR][1000 genomes]
rs1995313	0.81[AMR][1000 genomes]
rs2138504	0.84[EUR][1000 genomes]
rs2138505	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs218867	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	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4412234	0.81[AMR][1000 genomes]
rs443149	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
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]
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	0.81[EUR][1000 genomes]
rs6931402	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
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	0.81[AMR][1000 genomes]
rs7748115	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7751291	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7756848	0.97[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7768058	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]
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]
rs9387920	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9387924	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9387929	0.81[AMR][1000 genomes]
rs9398622	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
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	0.83[AMR][1000 genomes]
rs9482119	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs953616	0.98[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs976611	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121429600-121455600	Weak transcription	Brain Substantia Nigra	brain
2	chr6:121446800-121449000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:121446800-121464600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:121447000-121448800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:121447000-121448800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:121447000-121450200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:121447000-121451000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:121447000-121455600	Weak transcription	Aorta	Aorta
9	chr6:121447000-121463200	Weak transcription	Ovary	ovary
10	chr6:121447200-121448800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:121447200-121448800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:121447200-121450600	Weak transcription	Fetal Stomach	stomach
13	chr6:121447200-121451400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:121447200-121451400	Weak transcription	Fetal Kidney	kidney
15	chr6:121447200-121451600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:121447200-121451600	Weak transcription	Placenta	Placenta
17	chr6:121447200-121451800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr6:121447200-121452600	Weak transcription	Brain Angular Gyrus	brain
19	chr6:121447200-121455400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr6:121447200-121455400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr6:121447200-121463000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:121447200-121463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:121447200-121465000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:121447200-121473800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:121447200-121474200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:121447200-121475000	Weak transcription	Primary B cells from cord blood	blood
27	chr6:121447400-121449200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:121447400-121449200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr6:121447400-121449400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:121447400-121449600	Weak transcription	Brain Anterior Caudate	brain
31	chr6:121447400-121451600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr6:121447400-121451800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:121447400-121474200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:121447600-121453400	Weak transcription	Dnd41	blood
35	chr6:121447600-121473200	Weak transcription	Primary T cells from cord blood	blood
36	chr6:121447800-121449400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr6:121447800-121449800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:121447800-121465000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:121448200-121450000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:121448200-121454600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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