Variant report

Variant	rs543854
Chromosome Location	chr1:155675043-155675044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10752610	1.00[ASN][1000 genomes]
rs10908468	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094462	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11803678	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12077729	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374129	0.90[EUR][1000 genomes]
rs1624846	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16837037	0.90[EUR][1000 genomes]
rs171167	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17377506	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1749417	0.82[AMR][1000 genomes]
rs1749421	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1765284	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1962247	0.95[EUR][1000 genomes]
rs2477541	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2686255	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28574887	0.90[EUR][1000 genomes]
rs2985708	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs348206	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35044707	0.90[EUR][1000 genomes]
rs41264969	0.95[EUR][1000 genomes]
rs4253908	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4612618	0.90[EUR][1000 genomes]
rs4933	0.95[EUR][1000 genomes]
rs4971086	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971087	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548809	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs552778	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56758819	0.90[EUR][1000 genomes]
rs59706606	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59791187	0.90[EUR][1000 genomes]
rs61258690	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs621181	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs682020	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs708612	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73001021	0.90[EUR][1000 genomes]
rs7525057	1.00[EUR][1000 genomes]
rs7535158	1.00[EUR][1000 genomes]
rs822016	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822018	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822019	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822020	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822022	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs822026	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs822497	0.91[AMR][1000 genomes]
rs822523	0.96[AMR][1000 genomes]
rs9426929	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9427223	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660200-155698800	Weak transcription	NHLF	lung
2	chr1:155660400-155682800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:155660400-155688800	Weak transcription	Lung	lung
4	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
5	chr1:155660600-155679000	Weak transcription	Fetal Brain Female	brain
6	chr1:155660600-155680200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:155660800-155682600	Weak transcription	Spleen	Spleen
8	chr1:155661600-155688600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
10	chr1:155662200-155682000	Weak transcription	HSMMtube	muscle
11	chr1:155662400-155682800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:155662400-155685600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:155663000-155679400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:155663000-155681200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:155663200-155675800	Weak transcription	HSMM	muscle
16	chr1:155663200-155679200	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:155663400-155682600	Weak transcription	Primary B cells from cord blood	blood
19	chr1:155664400-155678800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:155664400-155679000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:155665000-155678600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:155665200-155676000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:155665200-155685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:155665400-155675800	Weak transcription	NHDF-Ad	bronchial
26	chr1:155665400-155678800	Weak transcription	Thymus	Thymus
27	chr1:155665400-155678800	Weak transcription	Dnd41	blood
28	chr1:155665400-155679000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:155665400-155682000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:155665400-155695000	Weak transcription	Pancreas	Pancrea
31	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
32	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
33	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
34	chr1:155666000-155675800	Weak transcription	Hela-S3	cervix
35	chr1:155666200-155677400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr1:155666200-155677400	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr1:155666600-155679000	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:155666800-155675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:155666800-155680600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:155666800-155682600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:155667000-155686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:155667200-155678800	Weak transcription	A549	lung
43	chr1:155667200-155681800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:155667200-155683000	Weak transcription	Brain Germinal Matrix	brain
45	chr1:155667200-155687000	Weak transcription	Brain Angular Gyrus	brain
46	chr1:155667400-155675800	Weak transcription	Left Ventricle	heart
47	chr1:155667400-155678800	Weak transcription	Fetal Stomach	stomach
48	chr1:155667400-155679000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:155667600-155689600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:155667800-155678800	Weak transcription	Fetal Intestine Small	intestine

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