Variant report

Variant	rs6692805
Chromosome Location	chr1:192974728-192974729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192973548..192977447-chr1:192979869..192983384,3	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10733078	0.90[ASN][1000 genomes]
rs10737620	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10737621	0.81[ASN][1000 genomes]
rs10754047	0.80[ASN][1000 genomes]
rs10801167	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10801173	0.93[ASN][1000 genomes]
rs10801174	0.91[ASN][1000 genomes]
rs10801175	0.88[ASN][1000 genomes]
rs10921304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10921305	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10921308	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10921310	0.91[ASN][1000 genomes]
rs10921312	0.91[ASN][1000 genomes]
rs10921313	0.91[ASN][1000 genomes]
rs11583763	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12086884	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12126529	0.81[ASN][1000 genomes]
rs12141392	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12735445	0.99[ASN][1000 genomes]
rs1555555	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1890660	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2181408	0.91[ASN][1000 genomes]
rs2275444	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2370079	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2370081	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3753948	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3806351	0.82[ASN][1000 genomes]
rs3818865	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3820417	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3945872	0.96[ASN][1000 genomes]
rs4657840	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657842	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4657843	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4657845	0.91[ASN][1000 genomes]
rs4657846	0.82[ASN][1000 genomes]
rs4657847	0.82[ASN][1000 genomes]
rs4658079	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663431	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6665069	0.90[ASN][1000 genomes]
rs6671237	0.90[ASN][1000 genomes]
rs6672649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676322	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6676416	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6692342	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6703727	0.90[ASN][1000 genomes]
rs7534257	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7542466	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7547615	0.91[ASN][1000 genomes]
rs7553247	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs912070	0.91[ASN][1000 genomes]
rs912071	0.90[ASN][1000 genomes]
rs9427838	0.94[ASN][1000 genomes]
rs9783104	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998429	chr1:192961698-193050515	Strong transcription Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv498699	chr1:192970436-192993624	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
2	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
4	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
7	chr1:192961400-192976000	Weak transcription	HepG2	liver
8	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:192963800-192974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:192963800-192981600	Weak transcription	NHLF	lung
15	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:192963800-192982200	Weak transcription	Aorta	Aorta
17	chr1:192963800-192983000	Weak transcription	NH-A	brain
18	chr1:192963800-192990000	Weak transcription	HMEC	breast
19	chr1:192963800-192994400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:192963800-192996200	Weak transcription	Fetal Lung	lung
21	chr1:192963800-193012400	Weak transcription	NHEK	skin
22	chr1:192963800-193019600	Weak transcription	Ovary	ovary
23	chr1:192964000-192975000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:192964000-192977200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:192964000-192981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:192964000-192981800	Weak transcription	HSMM	muscle
27	chr1:192964000-192983000	Weak transcription	Fetal Thymus	thymus
28	chr1:192964000-192984600	Weak transcription	Primary B cells from cord blood	blood
29	chr1:192964000-192990400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:192964000-192994400	Weak transcription	Left Ventricle	heart
31	chr1:192965000-192990800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:192966200-192994200	Weak transcription	Primary T cells from cord blood	blood
33	chr1:192966400-192976800	Weak transcription	A549	lung
34	chr1:192966400-192985200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:192967200-192983600	Weak transcription	HUVEC	blood vessel
36	chr1:192967600-192982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:192967600-192993000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:192968000-192978000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:192968000-192981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:192968000-192984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:192968000-192992000	Weak transcription	Placenta	Placenta
42	chr1:192968000-193009400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:192968000-193012400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:192968000-193019400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:192970800-192975200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:192972400-192976400	Weak transcription	Liver	Liver
47	chr1:192972400-192982000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:192972600-192975400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:192972800-192981800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:192972800-192983200	Weak transcription	K562	blood

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