Variant report

Variant	rs2599999
Chromosome Location	chr12:57951795-57951796
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57951614..57954558-chr12:58128271..58131020,2	K562	blood:
2	chr12:57949367..57951860-chr12:57963761..57965939,2	K562	blood:
3	chr12:57942905..57945199-chr12:57951619..57953236,2	MCF-7	breast:
4	chr12:57915598..57918321-chr12:57950368..57953110,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166987	Chromatin interaction
ENSG00000155980	Chromatin interaction

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

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

rs_ID	r²[population]
rs1148551	0.89[EUR][1000 genomes]
rs1284185	1.00[CEU][hapmap]
rs28382838	1.00[AFR][1000 genomes]
rs774894	1.00[CEU][hapmap]
rs775238	0.89[EUR][1000 genomes]
rs775242	1.00[CEU][hapmap]
rs810205	1.00[CEU][hapmap]
rs813516	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
7	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	nsv1053930	chr12:57921188-57969659	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57944600-57957400	Weak transcription	Aorta	Aorta
2	chr12:57944800-57957400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:57946000-57956800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:57946400-57956600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:57947000-57962000	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:57947200-57957200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:57947400-57955000	Weak transcription	NH-A	brain
8	chr12:57947400-57960800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:57947600-57957400	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:57947600-57957800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:57947800-57957400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:57947800-57957800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:57948000-57957000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:57948000-57957200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:57948200-57955600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:57948200-57957200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:57948200-57957200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:57948200-57957400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:57949000-57957000	Weak transcription	Fetal Brain Female	brain
20	chr12:57950400-57957200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:57950600-57957400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:57950600-57957400	Weak transcription	Fetal Brain Male	brain
23	chr12:57950600-57962600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:57950800-57957200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:57950800-57957400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:57950800-57960600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr12:57950800-57961000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr12:57950800-57962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:57951400-57956600	Weak transcription	Brain Germinal Matrix	brain
30	chr12:57951600-57953600	Enhancers	K562	blood

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