Variant report

Variant	rs3803008
Chromosome Location	chr12:26147825-26147826
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:26146925-26148004	SK-N-SH	brain:	n/a	n/a
2	JUND	chr12:26147819-26147999	H1-hESC	embryonic stem cell:	n/a	n/a
3	NFIC	chr12:26146986-26147959	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr12:26147016-26147896	SK-N-SH	brain:	n/a	n/a
5	TCF12	chr12:26146906-26147858	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
RASSF8	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10505987	0.84[AFR][1000 genomes]
rs10842652	0.88[ASN][1000 genomes]
rs10842654	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11494759	0.87[ASN][1000 genomes]
rs12304002	0.90[AFR][1000 genomes]
rs12317401	0.91[AFR][1000 genomes]
rs1355707	0.88[ASN][1000 genomes]
rs1495649	0.84[AMR][1000 genomes]
rs1533244	0.84[AMR][1000 genomes]
rs16929780	0.84[AMR][1000 genomes]
rs16929815	0.84[AMR][1000 genomes]
rs16929857	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16929860	0.84[AMR][1000 genomes]
rs1797943	0.88[ASN][1000 genomes]
rs2343200	0.81[AMR][1000 genomes]
rs2643934	0.91[ASN][1000 genomes]
rs2729633	0.87[ASN][1000 genomes]
rs2729653	0.88[ASN][1000 genomes]
rs2729654	0.91[ASN][1000 genomes]
rs4963643	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4963644	0.84[AMR][1000 genomes]
rs4963947	0.84[AMR][1000 genomes]
rs73074898	0.84[AMR][1000 genomes]
rs73077103	0.84[AMR][1000 genomes]
rs73077131	0.84[AMR][1000 genomes]
rs73077152	0.84[AMR][1000 genomes]
rs73077161	0.81[AMR][1000 genomes]
rs73077176	0.81[AMR][1000 genomes]
rs73077179	0.81[AMR][1000 genomes]
rs73079021	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs924049	0.88[ASN][1000 genomes]
rs924052	0.88[ASN][1000 genomes]
rs949849	0.88[ASN][1000 genomes]
rs9804876	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv522351	chr12:26127230-26149703	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
2	chr12:26134200-26148000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26139400-26150600	Weak transcription	Brain Angular Gyrus	brain
4	chr12:26139600-26160000	Weak transcription	Pancreas	Pancrea
5	chr12:26142000-26149000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:26142200-26155600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:26143800-26151200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr12:26143800-26151200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:26144000-26151200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:26144000-26151600	Enhancers	Colon Smooth Muscle	Colon
11	chr12:26144400-26148000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr12:26144400-26148200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:26144400-26152200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr12:26144600-26148000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:26145000-26151400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr12:26145200-26148200	Enhancers	Fetal Lung	lung
17	chr12:26145200-26149600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr12:26145200-26151200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:26145200-26151400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:26145200-26152600	Enhancers	Osteobl	bone
21	chr12:26145400-26148200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:26145400-26150400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr12:26145400-26150400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr12:26145400-26150600	Weak transcription	Fetal Heart	heart
25	chr12:26145400-26151000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:26145600-26151800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:26145600-26163000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:26145800-26148400	Enhancers	Brain Substantia Nigra	brain
29	chr12:26145800-26150200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:26145800-26150600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:26145800-26152400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr12:26145800-26153400	Weak transcription	Right Atrium	heart
33	chr12:26146000-26150200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:26146000-26150200	Weak transcription	NHEK	skin
35	chr12:26146200-26148000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:26146200-26148200	Enhancers	Psoas Muscle	Psoas
37	chr12:26146200-26151200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:26146200-26152200	Enhancers	HSMM	muscle
39	chr12:26146200-26163000	Weak transcription	Lung	lung
40	chr12:26146400-26148200	Enhancers	Brain Cingulate Gyrus	brain
41	chr12:26146400-26148200	Enhancers	Fetal Stomach	stomach
42	chr12:26146400-26149200	Enhancers	Stomach Smooth Muscle	stomach
43	chr12:26146600-26148000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:26146600-26150200	Weak transcription	HMEC	breast
45	chr12:26146600-26150600	Weak transcription	Right Ventricle	heart
46	chr12:26146600-26155600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:26146800-26148000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:26146800-26150800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:26146800-26150800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:26146800-26151000	Enhancers	HSMMtube	muscle

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