Variant report

Variant	rs2470889
Chromosome Location	chr12:83156648-83156649
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11115442	1.00[EUR][1000 genomes]
rs12321752	1.00[EUR][1000 genomes]
rs2470367	1.00[EUR][1000 genomes]
rs2470368	1.00[EUR][1000 genomes]
rs2470886	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2470888	1.00[EUR][1000 genomes]
rs58307450	1.00[EUR][1000 genomes]
rs7297682	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv469491	chr12:83108395-83203742	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv559543	chr12:83108395-83203742	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv2754509	chr12:83133090-83203742	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv999149	chr12:83137872-83206342	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83147000-83160400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:83149200-83159600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83149400-83157400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr12:83150000-83158000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:83150600-83174400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:83150800-83158400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:83151600-83168600	Weak transcription	Gastric	stomach
8	chr12:83151600-83173200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:83153200-83168400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:83153200-83198600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:83154200-83158400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:83154200-83164600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:83154400-83161400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:83154400-83162200	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:83155000-83158600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr12:83155000-83161800	Weak transcription	Fetal Lung	lung
17	chr12:83155200-83161400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:83155200-83177200	Weak transcription	Fetal Kidney	kidney
19	chr12:83155400-83157200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:83155400-83161800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:83155400-83169800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:83155600-83157400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr12:83155600-83159200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:83155600-83162000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:83156400-83158400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr12:83156400-83158800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:83156400-83161200	Weak transcription	Fetal Stomach	stomach
28	chr12:83156600-83157000	Weak transcription	Brain Angular Gyrus	brain

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