Variant report

Variant	rs2075921
Chromosome Location	chr22:33672894-33672895
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs16992036	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9609757	0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1067068	chr22:33452180-33851033	Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv933455	chr22:33532697-33915429	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1064192	chr22:33615699-33741836	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1059927	chr22:33615699-33904339	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv544682	chr22:33615699-33904339	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1060316	chr22:33644676-33737725	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1056097	chr22:33650328-33733456	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1061485	chr22:33670971-33885169	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33660000-33722800	Weak transcription	HSMMtube	muscle
2	chr22:33666000-33676800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:33666200-33676800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:33666800-33713600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr22:33667200-33678600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33667200-33697800	Weak transcription	Colon Smooth Muscle	Colon
7	chr22:33667600-33676400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:33667600-33678400	Weak transcription	Brain Germinal Matrix	brain
9	chr22:33667600-33724800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr22:33667800-33673000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr22:33667800-33678400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:33667800-33678600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr22:33667800-33678600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr22:33667800-33679000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr22:33668400-33674600	Weak transcription	Fetal Kidney	kidney
16	chr22:33668400-33678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:33668400-33697800	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:33668400-33712200	Weak transcription	Esophagus	oesophagus
19	chr22:33668800-33720400	Weak transcription	Psoas Muscle	Psoas
20	chr22:33669400-33678400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:33669600-33698200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:33670000-33676600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr22:33670200-33675800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:33670400-33673000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:33670400-33673800	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:33670400-33698200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr22:33670600-33673000	Weak transcription	Fetal Intestine Large	intestine
28	chr22:33670600-33678200	Weak transcription	Fetal Intestine Small	intestine
29	chr22:33670600-33678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:33670600-33685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:33670600-33699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:33671000-33678600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:33671400-33688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:33671600-33674200	Weak transcription	Fetal Heart	heart
35	chr22:33671600-33675800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:33671800-33673600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:33672200-33674000	Strong transcription	Right Ventricle	heart
38	chr22:33672400-33673000	Strong transcription	Fetal Lung	lung
39	chr22:33672400-33673200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:33672400-33673200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:33672400-33673400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:33672400-33674000	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr22:33672400-33674000	Strong transcription	Brain Anterior Caudate	brain
44	chr22:33672400-33674400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:33672400-33679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:33672600-33673200	Genic enhancers	Liver	Liver
47	chr22:33672600-33673200	Strong transcription	Brain Substantia Nigra	brain
48	chr22:33672600-33673200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr22:33672600-33673400	Genic enhancers	Gastric	stomach
50	chr22:33672600-33673400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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