Variant report

Variant	rs235477
Chromosome Location	chr1:171522386-171522387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1055417	0.82[EUR][1000 genomes]
rs10913167	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12136576	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12137832	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12139715	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12142594	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12145045	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12734261	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2294292	0.83[EUR][1000 genomes]
rs2294293	0.83[EUR][1000 genomes]
rs235471	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235472	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235488	0.83[AMR][1000 genomes]
rs235495	0.83[AMR][1000 genomes]
rs235498	0.83[AMR][1000 genomes]
rs235502	0.83[AMR][1000 genomes]
rs235507	0.83[AMR][1000 genomes]
rs235886	0.83[AMR][1000 genomes]
rs235892	0.83[AMR][1000 genomes]
rs235910	0.83[AMR][1000 genomes]
rs235912	0.83[AMR][1000 genomes]
rs71637418	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71637419	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7534464	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7534557	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7538745	0.86[EUR][1000 genomes];0.80[ASN][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv465639	chr1:171459507-171545051	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv548190	chr1:171459507-171545051	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171475800-171524400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:171481000-171528000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:171481200-171522400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:171481400-171522800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:171495200-171524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:171501200-171525600	Weak transcription	Fetal Heart	heart
10	chr1:171505200-171525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:171511200-171525000	Weak transcription	Stomach Mucosa	stomach
12	chr1:171511600-171524800	Weak transcription	Spleen	Spleen
13	chr1:171511800-171524200	Weak transcription	Brain Substantia Nigra	brain
14	chr1:171511800-171525000	Weak transcription	Colonic Mucosa	Colon
15	chr1:171513000-171525200	Weak transcription	HSMMtube	muscle
16	chr1:171513400-171525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:171513400-171525000	Weak transcription	Right Ventricle	heart
18	chr1:171513600-171525800	Weak transcription	NHLF	lung
19	chr1:171515600-171524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:171516200-171526600	Weak transcription	Small Intestine	intestine
21	chr1:171517400-171524400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:171517400-171525000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:171517400-171525000	Weak transcription	Esophagus	oesophagus
24	chr1:171517600-171524800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:171517600-171524800	Weak transcription	Lung	lung
26	chr1:171517600-171524800	Weak transcription	Pancreas	Pancrea
27	chr1:171517800-171525200	Weak transcription	HUVEC	blood vessel
28	chr1:171518200-171524800	Weak transcription	Aorta	Aorta
29	chr1:171518200-171525000	Weak transcription	Gastric	stomach
30	chr1:171518600-171524400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:171518600-171525000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr1:171518800-171522600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:171518800-171525000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:171519000-171524800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:171519000-171524800	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:171519200-171524400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:171519200-171525000	Weak transcription	Fetal Brain Female	brain
38	chr1:171519400-171522600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:171519400-171525000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr1:171519400-171525800	Weak transcription	NH-A	brain
41	chr1:171519400-171526000	Weak transcription	A549	lung
42	chr1:171519600-171522800	Weak transcription	Dnd41	blood
43	chr1:171519600-171524800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:171519600-171525600	Weak transcription	HSMM	muscle
45	chr1:171519600-171525600	Weak transcription	NHDF-Ad	bronchial
46	chr1:171519600-171525800	Weak transcription	Hela-S3	cervix
47	chr1:171519600-171526200	Weak transcription	GM12878-XiMat	blood
48	chr1:171519600-171526200	Weak transcription	HepG2	liver
49	chr1:171519600-171526200	Weak transcription	K562	blood
50	chr1:171519600-171526400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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