Variant report

Variant	rs12231439
Chromosome Location	chr12:106647842-106647843
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	chr12:106644967..106648309-chr12:106659700..106662827,5	MCF-7	breast:
2	chr12:106647187..106649805-chr12:106683824..106686258,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11112908	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112915	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1215753	0.85[ASN][1000 genomes]
rs12227822	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320181	0.87[ASN][1000 genomes]
rs2649705	0.87[ASN][1000 genomes]
rs2704895	0.88[ASN][1000 genomes]
rs2704896	0.87[ASN][1000 genomes]
rs2704898	0.87[ASN][1000 genomes]
rs2936701	0.87[ASN][1000 genomes]
rs3088113	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3741882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782699	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61942136	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799917	chr12:106637876-106649988	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1834434	chr12:106637876-106649988	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3423758	chr12:106646369-106649583	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv6114	chr12:106646456-106649695	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106642800-106648400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:106643200-106648800	Weak transcription	Right Atrium	heart
3	chr12:106643400-106648400	Weak transcription	Fetal Lung	lung
4	chr12:106643400-106648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:106644000-106648200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:106644200-106649800	Weak transcription	Fetal Heart	heart
7	chr12:106644400-106649400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:106645800-106648000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:106645800-106648000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:106645800-106648200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:106646200-106658800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:106647600-106648800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:106647600-106649000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:106647600-106649000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:106647800-106648000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:106647800-106648000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr12:106647800-106648200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:106647800-106648600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr12:106647800-106648600	Enhancers	Fetal Muscle Leg	muscle
20	chr12:106647800-106648800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:106647800-106649000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:106647800-106649000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:106647800-106649200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr12:106647800-106649600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr12:106647800-106649800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr12:106647800-106649800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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