Variant report

Variant	rs72700247
Chromosome Location	chr1:154747567-154747568
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154736362..154738572-chr1:154746811..154749808,2	K562	blood:
2	chr1:154741499..154743440-chr1:154745848..154747913,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10908439	0.83[EUR][1000 genomes]
rs11264256	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11589471	0.85[EUR][1000 genomes]
rs12047201	0.85[EUR][1000 genomes]
rs12123405	0.84[EUR][1000 genomes]
rs12129712	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12130204	0.85[EUR][1000 genomes]
rs1911289	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2131900	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55829123	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56995760	0.84[EUR][1000 genomes]
rs60161870	0.85[EUR][1000 genomes]
rs6666341	0.85[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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	esv3362664	chr1:154745128-154748426	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 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	chr1:154740400-154747600	Weak transcription	Fetal Brain Male	brain
2	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
3	chr1:154742200-154751400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:154744800-154749200	Enhancers	Brain Anterior Caudate	brain
5	chr1:154744800-154749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:154745000-154758200	Weak transcription	Colonic Mucosa	Colon
7	chr1:154745200-154748200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:154745200-154750600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:154745600-154747800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:154745600-154748200	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:154745600-154748600	Enhancers	Fetal Stomach	stomach
12	chr1:154745600-154749200	Enhancers	Fetal Muscle Leg	muscle
13	chr1:154745800-154747600	Weak transcription	Thymus	Thymus
14	chr1:154745800-154748800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:154745800-154749000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:154746000-154747800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:154746000-154747800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:154746000-154748200	Enhancers	Brain Germinal Matrix	brain
19	chr1:154746000-154748800	Enhancers	GM12878-XiMat	blood
20	chr1:154746200-154759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:154746600-154747600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:154746600-154748000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:154746600-154757400	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:154746800-154748400	Weak transcription	Brain Substantia Nigra	brain
26	chr1:154746800-154749400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:154747000-154747800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:154747000-154747800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:154747000-154748200	Weak transcription	Fetal Thymus	thymus
30	chr1:154747200-154748200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:154747200-154749200	Enhancers	Fetal Brain Female	brain
32	chr1:154747400-154757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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