Variant report

Variant	rs9795878
Chromosome Location	chr12:20922390-20922391
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10505869	0.81[EUR][1000 genomes]
rs10841617	0.81[EUR][1000 genomes]
rs10841627	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11045446	0.81[AFR][1000 genomes]
rs11045455	0.82[EUR][1000 genomes]
rs11045458	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11045459	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11045460	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11045477	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11519245	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11525531	0.84[EUR][1000 genomes]
rs1588918	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1588919	0.81[EUR][1000 genomes]
rs2090272	0.82[EUR][1000 genomes]
rs2090274	0.81[EUR][1000 genomes]
rs2090275	0.80[EUR][1000 genomes]
rs2090276	0.81[EUR][1000 genomes]
rs2102737	0.82[EUR][1000 genomes]
rs2417859	0.82[EUR][1000 genomes]
rs2900456	0.80[EUR][1000 genomes]
rs4340099	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4360745	0.85[AFR][1000 genomes]
rs4379890	0.81[EUR][1000 genomes]
rs4387400	0.83[AFR][1000 genomes]
rs4411320	0.85[AFR][1000 genomes]
rs4762776	0.81[EUR][1000 genomes]
rs4762778	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4762779	0.83[EUR][1000 genomes]
rs4762780	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4762781	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6487139	0.88[AFR][1000 genomes]
rs7297868	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7300887	0.81[EUR][1000 genomes]
rs7311295	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7315732	0.82[EUR][1000 genomes]
rs7964850	0.81[EUR][1000 genomes]
rs7968058	0.81[EUR][1000 genomes]
rs7980844	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1039951	chr12:20880417-20941238	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20921400-20922400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:20921600-20922400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr12:20921800-20922400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
4	chr12:20922000-20922400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr12:20922200-20922400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr12:20922200-20922400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
7	chr12:20922200-20922400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:20922200-20922400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:20922200-20922400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:20922200-20922400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:20922200-20922400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:20922200-20922400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr12:20922200-20922400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
15	chr12:20922200-20922400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:20922200-20922400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:20922200-20922400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:20922200-20922400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
21	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
24	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:20922200-20922400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
26	chr12:20922200-20922400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
27	chr12:20922200-20922400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:20922200-20922400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
30	chr12:20922200-20922400	ZNF genes & repeats	Adipose Nuclei	Adipose
31	chr12:20922200-20922400	Enhancers	Aorta	Aorta
32	chr12:20922200-20922400	ZNF genes & repeats	Liver	Liver
33	chr12:20922200-20922400	ZNF genes & repeats	Brain Hippocampus Middle	brain
34	chr12:20922200-20922400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:20922200-20922400	ZNF genes & repeats	Colonic Mucosa	Colon
36	chr12:20922200-20922400	ZNF genes & repeats	Colon Smooth Muscle	Colon
37	chr12:20922200-20922400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
38	chr12:20922200-20922400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
39	chr12:20922200-20922400	ZNF genes & repeats	Esophagus	oesophagus
40	chr12:20922200-20922400	ZNF genes & repeats	Fetal Kidney	kidney
41	chr12:20922200-20922400	ZNF genes & repeats	Gastric	stomach
42	chr12:20922200-20922400	Enhancers	Lung	lung
43	chr12:20922200-20922400	ZNF genes & repeats	Pancreas	Pancrea
44	chr12:20922200-20922400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
45	chr12:20922200-20922400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
46	chr12:20922200-20922400	Enhancers	Right Atrium	heart
47	chr12:20922200-20922400	Active TSS	Right Ventricle	heart
48	chr12:20922200-20922400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
49	chr12:20922200-20922400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
50	chr12:20922200-20922400	Active TSS	Small Intestine	intestine

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