Variant report

Variant	rs2878412
Chromosome Location	chr1:154828160-154828161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154827805..154830333-chr1:154834809..154836322,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs1061122	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10908443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264275	0.91[YRI][hapmap]
rs11582128	1.00[JPT][hapmap]
rs1218554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1218585	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1218587	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218588	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218589	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1218592	0.83[ASN][1000 genomes]
rs12760148	1.00[CHB][hapmap]
rs16836525	1.00[CHB][hapmap]
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	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660884	1.00[JPT][hapmap]
rs6682335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs906596	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs906597	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154819200-154828400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:154820800-154832600	Weak transcription	Right Atrium	heart
3	chr1:154821000-154832000	Weak transcription	HSMM	muscle
4	chr1:154821000-154837200	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154821200-154828400	Weak transcription	Psoas Muscle	Psoas
6	chr1:154821200-154828400	Weak transcription	Spleen	Spleen
7	chr1:154821200-154828800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:154822600-154838000	Weak transcription	Brain Angular Gyrus	brain
9	chr1:154822800-154828200	Weak transcription	HSMMtube	muscle
10	chr1:154822800-154832200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:154823000-154828600	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:154823000-154830600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:154823200-154828400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:154823400-154832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:154824200-154828200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:154824400-154834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:154826800-154828400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:154826800-154828400	Enhancers	Fetal Brain Female	brain
19	chr1:154827400-154828400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:154827600-154839400	Enhancers	Fetal Brain Male	brain
21	chr1:154827800-154828400	Active TSS	GM12878-XiMat	blood
22	chr1:154827800-154829400	Enhancers	Brain Germinal Matrix	brain
23	chr1:154827800-154831000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:154827800-154833600	Enhancers	Fetal Muscle Leg	muscle
25	chr1:154828000-154828400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr1:154828000-154828800	Enhancers	Fetal Lung	lung
27	chr1:154828000-154829000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:154828000-154829200	Enhancers	Brain Substantia Nigra	brain
29	chr1:154828000-154830400	Enhancers	Fetal Stomach	stomach
30	chr1:154828000-154833400	Enhancers	Brain Anterior Caudate	brain

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