Variant report

Variant	rs3888295
Chromosome Location	chr12:259205-259206
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11061676	0.80[EUR][1000 genomes]
rs11829493	0.80[EUR][1000 genomes]
rs12301140	0.83[EUR][1000 genomes]
rs12306762	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12423787	0.80[EUR][1000 genomes]
rs12424229	0.80[EUR][1000 genomes]
rs12424581	0.80[EUR][1000 genomes]
rs216237	1.00[CEU][hapmap]
rs57097854	0.80[EUR][1000 genomes]
rs74055590	0.89[EUR][1000 genomes];0.81[ASN][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	nsv983433	chr12:145740-400932	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv427901	chr12:146333-344299	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv428269	chr12:146333-344299	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1041243	chr12:150430-310571	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1038621	chr12:150430-324923	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv898552	chr12:154752-303320	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:249000-284200	Weak transcription	Right Atrium	heart
2	chr12:253800-285600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:254200-260600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:255000-262000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:255200-260600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:255400-259600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:255400-259800	Weak transcription	Fetal Kidney	kidney
8	chr12:255400-262200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:255800-260600	Weak transcription	Fetal Intestine Large	intestine
10	chr12:258000-259400	Enhancers	HMEC	breast
11	chr12:258200-259400	Enhancers	Esophagus	oesophagus
12	chr12:258600-262000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:258800-259400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:258800-261200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:258800-262200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:259000-261600	Weak transcription	Adipose Nuclei	Adipose
17	chr12:259200-259400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr12:259200-259400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:259200-260600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:259200-261800	Weak transcription	Fetal Thymus	thymus

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