Variant report

Variant	rs9607038
Chromosome Location	chr22:33776882-33776883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11705225	0.82[JPT][hapmap]
rs12152123	0.90[ASN][1000 genomes]
rs16992213	0.92[CHB][hapmap]
rs2267195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2267199	0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2413181	0.92[CHB][hapmap]
rs2413182	0.92[CHB][hapmap]
rs28711648	0.93[ASN][1000 genomes]
rs7291480	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8142296	0.92[CHB][hapmap]
rs9607036	0.80[ASN][1000 genomes]
rs9607037	0.82[CHB][hapmap]
rs9607041	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9609772	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9609775	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1062127	chr22:33755479-34085278	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
10	nsv544683	chr22:33755479-34085278	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
11	esv1835065	chr22:33758698-33798116	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1064026	chr22:33767185-33902059	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv531588	chr22:33776857-34150188	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
3	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
4	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
5	chr22:33765800-33777800	Weak transcription	Gastric	stomach
6	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
7	chr22:33769200-33777800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:33773000-33778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:33773200-33777200	Weak transcription	Fetal Intestine Large	intestine
10	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
11	chr22:33774000-33777000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:33774000-33777200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
14	chr22:33774400-33777800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:33774800-33777000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr22:33774800-33777000	Weak transcription	Aorta	Aorta
17	chr22:33774800-33777400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:33774800-33779800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:33775000-33777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:33775000-33777800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:33775000-33777800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr22:33775200-33780000	Weak transcription	Colon Smooth Muscle	Colon
25	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
28	chr22:33775400-33777000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr22:33775600-33778200	Weak transcription	Psoas Muscle	Psoas
31	chr22:33775600-33779800	Enhancers	Liver	Liver
32	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:33775800-33778000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:33776000-33777000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr22:33776000-33777200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr22:33776000-33778200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr22:33776000-33778400	Enhancers	HMEC	breast
38	chr22:33776000-33780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:33776000-33781200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:33776000-33781600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:33776200-33777600	Enhancers	Osteobl	bone
43	chr22:33776200-33777800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:33776200-33778000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:33776200-33780200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr22:33776200-33781000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr22:33776200-33782200	Weak transcription	HepG2	liver
48	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr22:33776400-33777400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr22:33776400-33777600	Enhancers	NH-A	brain

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