Variant report

Variant	rs7974523
Chromosome Location	chr12:24708778-24708779
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:24698828..24700700-chr12:24707231..24709312,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10743516	1.00[ASN][1000 genomes]
rs11047587	1.00[ASN][1000 genomes]
rs1154753	1.00[ASN][1000 genomes]
rs1155525	1.00[ASN][1000 genomes]
rs1386644	1.00[ASN][1000 genomes]
rs1466585	1.00[ASN][1000 genomes]
rs1466586	1.00[ASN][1000 genomes]
rs1466587	1.00[ASN][1000 genomes]
rs1565121	1.00[ASN][1000 genomes]
rs1601765	1.00[ASN][1000 genomes]
rs1872648	1.00[ASN][1000 genomes]
rs1982780	1.00[ASN][1000 genomes]
rs1994434	1.00[ASN][1000 genomes]
rs2029169	1.00[ASN][1000 genomes]
rs2101371	1.00[ASN][1000 genomes]
rs4963588	1.00[ASN][1000 genomes]
rs4963786	1.00[ASN][1000 genomes]
rs6487413	1.00[ASN][1000 genomes]
rs7306537	1.00[ASN][1000 genomes]
rs7965973	1.00[ASN][1000 genomes]
rs7970094	1.00[ASN][1000 genomes]
rs7979271	1.00[ASN][1000 genomes]
rs7980180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs901710	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv832352	chr12:24534823-24736540	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv645	chr12:24683914-24723421	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24696400-24713800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:24697800-24713800	Weak transcription	Placenta	Placenta
3	chr12:24704000-24713200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:24704200-24711000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:24704200-24711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:24704200-24711000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:24704200-24711200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:24704600-24713200	Weak transcription	Right Atrium	heart
9	chr12:24704800-24710600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:24704800-24712400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:24704800-24712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:24704800-24713200	Weak transcription	Brain Angular Gyrus	brain
13	chr12:24704800-24713600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:24705000-24711200	Weak transcription	Fetal Lung	lung
15	chr12:24705000-24712000	Weak transcription	Fetal Brain Female	brain
16	chr12:24705000-24713600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:24705600-24711200	Weak transcription	Fetal Brain Male	brain
18	chr12:24705800-24709000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:24705800-24711000	Weak transcription	Liver	Liver
20	chr12:24706800-24709800	Enhancers	NHLF	lung
21	chr12:24707000-24709000	Enhancers	Fetal Heart	heart
22	chr12:24707400-24712600	Weak transcription	Colon Smooth Muscle	Colon
23	chr12:24708000-24708800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:24708000-24708800	Weak transcription	Adipose Nuclei	Adipose
25	chr12:24708000-24708800	Enhancers	Brain Anterior Caudate	brain
26	chr12:24708000-24709000	Enhancers	Ovary	ovary
27	chr12:24708000-24709000	Enhancers	Spleen	Spleen
28	chr12:24708000-24710800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:24708000-24713200	Weak transcription	Brain Germinal Matrix	brain
30	chr12:24708200-24708800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:24708200-24711200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:24708200-24712200	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:24708200-24713200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:24708200-24713600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr12:24708400-24708800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:24708600-24709000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:24708600-24709000	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:24708600-24709200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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