Variant report

Variant	rs1218589
Chromosome Location	chr1:154830219-154830220
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154830014..154831577-chr6:31809567..31811071,2	K562	blood:
2	chr1:154829274..154831457-chr1:154833879..154837058,3	K562	blood:
3	chr1:154827805..154830333-chr1:154834809..154836322,2	MCF-7	breast:
4	chr1:154829152..154831379-chr1:154835811..154838261,2	K562	blood:
5	chr1:154823084..154826737-chr1:154829485..154832130,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1061122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10908443	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264302	1.00[JPT][hapmap]
rs11582128	1.00[JPT][hapmap]
rs1218554	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218584	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1218585	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1218587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218588	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218592	0.83[ASN][1000 genomes]
rs12760148	1.00[CHB][hapmap]
rs16836525	1.00[CHB][hapmap]
rs2878412	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845396	1.00[CHB][hapmap]
rs4845397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4845402	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4845675	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660884	1.00[JPT][hapmap]
rs6682335	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906596	0.86[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs906597	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154820800-154832600	Weak transcription	Right Atrium	heart
2	chr1:154821000-154832000	Weak transcription	HSMM	muscle
3	chr1:154821000-154837200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:154822600-154838000	Weak transcription	Brain Angular Gyrus	brain
5	chr1:154822800-154832200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:154823000-154830600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:154823400-154832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:154824400-154834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:154827600-154839400	Enhancers	Fetal Brain Male	brain
10	chr1:154827800-154831000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:154827800-154833600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:154828000-154830400	Enhancers	Fetal Stomach	stomach
13	chr1:154828000-154833400	Enhancers	Brain Anterior Caudate	brain
14	chr1:154828400-154833400	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:154828800-154831800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:154828800-154832200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:154828800-154832600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:154829000-154830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:154829000-154832000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:154829000-154832600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:154829200-154832000	Enhancers	Fetal Brain Female	brain
22	chr1:154829200-154832000	Weak transcription	HSMMtube	muscle
23	chr1:154829200-154833000	Weak transcription	Brain Substantia Nigra	brain
24	chr1:154829400-154830600	Weak transcription	Psoas Muscle	Psoas
25	chr1:154829400-154831400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:154829400-154831600	Weak transcription	Brain Germinal Matrix	brain
27	chr1:154829400-154832000	Weak transcription	Spleen	Spleen
28	chr1:154829400-154832400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:154829600-154830600	Weak transcription	Colonic Mucosa	Colon
30	chr1:154829600-154830600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:154829600-154831800	Weak transcription	Fetal Thymus	thymus
32	chr1:154830000-154831800	Enhancers	Fetal Muscle Trunk	muscle

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