Variant report

Variant	rs235471
Chromosome Location	chr1:171520252-171520253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1055417	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10913167	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12129856	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12131694	0.81[ASN][1000 genomes]
rs12136576	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137832	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12139715	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12142594	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12145045	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12145085	0.82[EUR][1000 genomes]
rs12146022	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12733939	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12734261	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12759907	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs171005	0.80[ASN][1000 genomes]
rs183533	0.80[ASN][1000 genomes]
rs190198	0.80[ASN][1000 genomes]
rs2294292	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2294293	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235472	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235477	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235498	0.80[ASN][1000 genomes]
rs235502	0.80[ASN][1000 genomes]
rs235507	0.80[ASN][1000 genomes]
rs235865	0.80[ASN][1000 genomes]
rs235886	0.80[ASN][1000 genomes]
rs235892	0.80[ASN][1000 genomes]
rs235893	0.80[ASN][1000 genomes]
rs235895	0.80[ASN][1000 genomes]
rs235898	0.80[ASN][1000 genomes]
rs235899	0.80[ASN][1000 genomes]
rs235900	0.80[ASN][1000 genomes]
rs235901	0.80[ASN][1000 genomes]
rs235902	0.80[ASN][1000 genomes]
rs235903	0.80[ASN][1000 genomes]
rs235904	0.80[ASN][1000 genomes]
rs235910	0.80[ASN][1000 genomes]
rs235911	0.80[ASN][1000 genomes]
rs235912	0.80[ASN][1000 genomes]
rs28661007	0.80[ASN][1000 genomes]
rs46407	0.80[ASN][1000 genomes]
rs536753	0.80[ASN][1000 genomes]
rs559739	0.80[ASN][1000 genomes]
rs56207586	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs591286	0.80[ASN][1000 genomes]
rs631259	0.80[ASN][1000 genomes]
rs67133611	0.80[ASN][1000 genomes]
rs71637410	0.81[EUR][1000 genomes]
rs71637418	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71637419	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74122850	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7534464	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7534557	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7538745	0.90[EUR][1000 genomes];0.95[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:125 , 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	chr1:171481600-171520600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr1:171481800-171520600	Strong transcription	Placenta	Placenta
7	chr1:171482000-171520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:171482000-171520400	Strong transcription	Rectal Mucosa Donor 31	rectum
9	chr1:171482000-171522000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:171482000-171523000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:171482000-171524400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:171482200-171520400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr1:171482200-171520600	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:171482200-171520600	Strong transcription	Fetal Thymus	thymus
15	chr1:171482200-171541800	Strong transcription	Primary B cells from peripheral blood	blood
16	chr1:171482400-171520400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:171482600-171520600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:171483200-171520400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:171483200-171520600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr1:171483600-171520400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:171495200-171524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:171497200-171520600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:171501200-171525600	Weak transcription	Fetal Heart	heart
24	chr1:171502600-171520400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:171504400-171520600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:171504600-171520400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:171505200-171525600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:171507000-171520400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:171508400-171520600	Strong transcription	Fetal Lung	lung
30	chr1:171508400-171521200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr1:171511200-171525000	Weak transcription	Stomach Mucosa	stomach
32	chr1:171511600-171524800	Weak transcription	Spleen	Spleen
33	chr1:171511800-171524200	Weak transcription	Brain Substantia Nigra	brain
34	chr1:171511800-171525000	Weak transcription	Colonic Mucosa	Colon
35	chr1:171513000-171525200	Weak transcription	HSMMtube	muscle
36	chr1:171513400-171525000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:171513400-171525000	Weak transcription	Right Ventricle	heart
38	chr1:171513600-171525800	Weak transcription	NHLF	lung
39	chr1:171515400-171520400	Strong transcription	Thymus	Thymus
40	chr1:171515400-171520600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:171515400-171520600	Strong transcription	Fetal Muscle Leg	muscle
42	chr1:171515600-171524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr1:171516200-171526600	Weak transcription	Small Intestine	intestine
44	chr1:171516400-171520400	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:171516800-171520400	Strong transcription	Left Ventricle	heart
46	chr1:171517000-171520400	Strong transcription	Brain Anterior Caudate	brain
47	chr1:171517400-171524400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:171517400-171525000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:171517400-171525000	Weak transcription	Esophagus	oesophagus
50	chr1:171517600-171524800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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