Variant report

Variant	rs12228674
Chromosome Location	chr12:31508939-31508940
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:31477383..31479445-chr12:31506370..31509991,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139146	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10843918	1.00[EUR][1000 genomes]
rs11051394	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051395	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11051396	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051399	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11051402	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051403	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11051409	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12226982	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12581740	1.00[EUR][1000 genomes]
rs17576073	1.00[EUR][1000 genomes]
rs17576094	1.00[EUR][1000 genomes]
rs17576143	1.00[EUR][1000 genomes]
rs17603906	1.00[EUR][1000 genomes]
rs2293039	1.00[EUR][1000 genomes]
rs2293040	1.00[EUR][1000 genomes]
rs3741872	1.00[EUR][1000 genomes]
rs3741873	1.00[EUR][1000 genomes]
rs3782688	1.00[EUR][1000 genomes]
rs57061710	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60022875	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7301494	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2751054	chr12:31225710-31513718	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv430477	chr12:31239600-31513718	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31500200-31513600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:31500600-31515400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:31506400-31509200	Enhancers	Fetal Intestine Large	intestine
5	chr12:31506400-31509200	Enhancers	Fetal Intestine Small	intestine
6	chr12:31506600-31509400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr12:31507200-31509200	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr12:31507200-31512000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:31507400-31513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:31507400-31514800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:31507400-31514800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:31507400-31514800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:31507400-31515000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr12:31507400-31515000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:31507600-31512000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:31507600-31514800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:31507800-31512000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:31507800-31515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:31508200-31509000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:31508400-31509000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:31508400-31509000	Enhancers	Brain Hippocampus Middle	brain
22	chr12:31508400-31509000	Enhancers	A549	lung
23	chr12:31508400-31509000	Flanking Active TSS	HepG2	liver
24	chr12:31508400-31509200	Enhancers	Duodenum Mucosa	Duodenum
25	chr12:31508600-31509000	Enhancers	Fetal Kidney	kidney
26	chr12:31508800-31509000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:31508800-31509000	Enhancers	Colonic Mucosa	Colon
28	chr12:31508800-31509000	Flanking Active TSS	Stomach Mucosa	stomach
29	chr12:31508800-31515000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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