Variant report

Variant	rs12833344
Chromosome Location	chr12:107142307-107142308
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12827304	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34956441	1.00[ASN][1000 genomes]
rs34998821	1.00[ASN][1000 genomes]
rs61941956	1.00[ASN][1000 genomes]
rs71452919	1.00[ASN][1000 genomes]
rs71452921	1.00[ASN][1000 genomes]
rs71452928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7316434	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560090	chr12:106935136-107223969	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv9005	chr12:107019233-107367130	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv899505	chr12:107042891-107240432	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:107134000-107143200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:107134600-107144200	Weak transcription	Brain Substantia Nigra	brain
3	chr12:107137400-107153400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:107139000-107145000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:107139400-107145000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:107139400-107146200	Weak transcription	Brain Germinal Matrix	brain
7	chr12:107139600-107153200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:107140200-107142800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:107140200-107143800	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr12:107140200-107143800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:107140200-107144000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr12:107140200-107144000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:107140200-107145000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:107140400-107142800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:107140400-107144000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:107140400-107144400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:107140600-107142400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr12:107140600-107143600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:107140600-107144000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr12:107141000-107142800	Enhancers	Fetal Thymus	thymus
21	chr12:107141200-107142600	Enhancers	GM12878-XiMat	blood
22	chr12:107141400-107142400	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:107141400-107142600	Enhancers	Primary B cells from cord blood	blood
24	chr12:107141400-107147000	Weak transcription	Brain Anterior Caudate	brain
25	chr12:107142000-107142400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:107142200-107143800	Enhancers	Primary T cells from cord blood	blood
27	chr12:107142200-107144600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:107142200-107146400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:107142200-107146800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:107142200-107147200	Weak transcription	Thymus	Thymus

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