Variant report

Variant	rs1807168
Chromosome Location	chr12:56293937-56293938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10128982	0.81[ASN][1000 genomes]
rs10876861	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12298127	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1681070	0.81[AMR][1000 genomes]
rs1681082	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1701698	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1701699	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6581087	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7135133	0.80[AMR][1000 genomes]
rs7312870	0.82[ASN][1000 genomes]
rs772462	0.80[ASN][1000 genomes]
rs772468	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9739192	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9739196	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56280000-56294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:56283000-56294800	Weak transcription	Thymus	Thymus
4	chr12:56284800-56294000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
6	chr12:56287200-56294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:56289200-56294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:56289400-56294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:56290000-56295200	Weak transcription	GM12878-XiMat	blood
11	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
12	chr12:56291200-56294200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:56291200-56295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:56291400-56294000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:56291400-56294000	Weak transcription	Liver	Liver
16	chr12:56291400-56294200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:56291400-56294200	Weak transcription	Lung	lung
18	chr12:56291400-56294800	Weak transcription	Hela-S3	cervix
19	chr12:56291400-56296800	Weak transcription	HUVEC	blood vessel
20	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:56291600-56294200	Weak transcription	Fetal Lung	lung
22	chr12:56292000-56298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:56292400-56294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:56292400-56294000	Weak transcription	Adipose Nuclei	Adipose
25	chr12:56292400-56294000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:56292400-56294000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:56292600-56294000	Weak transcription	Fetal Stomach	stomach
30	chr12:56292600-56294200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:56292600-56294200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:56292600-56294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:56292600-56294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:56292600-56294800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:56292600-56298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:56292800-56295000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:56292800-56295200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:56292800-56295400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:56292800-56295400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr12:56292800-56295400	Weak transcription	Dnd41	blood
41	chr12:56292800-56295400	Weak transcription	NHEK	skin
42	chr12:56292800-56295600	Weak transcription	Primary B cells from peripheral blood	blood
43	chr12:56292800-56295600	Weak transcription	Aorta	Aorta
44	chr12:56292800-56295600	Weak transcription	Gastric	stomach
45	chr12:56292800-56295600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:56292800-56295800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr12:56292800-56296800	Weak transcription	Colonic Mucosa	Colon
48	chr12:56292800-56297200	Strong transcription	Fetal Brain Female	brain
49	chr12:56292800-56297600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr12:56292800-56297600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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