Variant report

Variant	rs56085838
Chromosome Location	chr1:192964830-192964831
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr1:192964718-192964893	K562	blood:	n/a	n/a
2	POLR2A	chr1:192962475-192967004	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:192964363..192967314-chr1:192975848..192978969,3	K562	blood:

Variant related genes	Relation type
ZNF101P2	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1339589	0.83[AMR][1000 genomes]
rs1612628	0.83[AMR][1000 genomes]
rs1618583	0.83[AMR][1000 genomes]
rs16835090	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1769068	0.83[AMR][1000 genomes]
rs1769070	0.83[AMR][1000 genomes]
rs1769071	0.83[AMR][1000 genomes]
rs2093603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2093604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2486494	0.83[AMR][1000 genomes]
rs2486495	0.83[AMR][1000 genomes]
rs55986802	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57466067	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58854175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59189492	0.83[AMR][1000 genomes]
rs6661948	0.83[AMR][1000 genomes]
rs6669547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6697204	0.89[AFR][1000 genomes]
rs6697396	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130905	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130906	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130907	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74133123	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546076	0.83[AMR][1000 genomes]
rs7553594	0.83[AMR][1000 genomes]
rs9427563	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427564	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427568	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427570	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427827	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427828	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427829	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427830	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427831	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9427833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv946551	chr1:192963235-192965650	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
2	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:192953600-192982400	Weak transcription	HSMMtube	muscle
5	chr1:192954200-192991200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:192954800-192978800	Weak transcription	Right Ventricle	heart
7	chr1:192955800-192972400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr1:192955800-192990600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:192956000-192965400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr1:192956000-192966600	Weak transcription	Dnd41	blood
11	chr1:192956000-192966800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:192956200-192972000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:192956200-192988400	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:192960400-192967400	Weak transcription	Gastric	stomach
15	chr1:192961200-192983600	Weak transcription	Hela-S3	cervix
16	chr1:192961400-192968200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:192961400-192976000	Weak transcription	HepG2	liver
18	chr1:192961600-192967600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:192961800-192976200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:192962600-192965000	Strong transcription	K562	blood
21	chr1:192962600-192986400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:192963000-192966200	Strong transcription	Primary T cells from cord blood	blood
23	chr1:192963000-192982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:192963200-192965000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:192963400-192965400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:192963600-192965400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr1:192963600-192967600	Weak transcription	Fetal Brain Female	brain
28	chr1:192963600-192967600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:192963600-192983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:192963800-192965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:192963800-192966000	Weak transcription	A549	lung
32	chr1:192963800-192966400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:192963800-192966800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:192963800-192966800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:192963800-192967000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:192963800-192967400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:192963800-192967800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:192963800-192968000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:192963800-192968200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:192963800-192968800	Weak transcription	Pancreas	Pancrea
41	chr1:192963800-192969400	Weak transcription	GM12878-XiMat	blood
42	chr1:192963800-192972000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:192963800-192972000	Weak transcription	Adipose Nuclei	Adipose
44	chr1:192963800-192972600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:192963800-192973200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr1:192963800-192974800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:192963800-192981400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:192963800-192981600	Weak transcription	NHLF	lung
49	chr1:192963800-192982000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:192963800-192982200	Weak transcription	Aorta	Aorta

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