Variant report

Variant	rs73881449
Chromosome Location	chr22:30775117-30775118
allele	A/G
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	POLR2A	chr22:30775113-30775162	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30767734..30769854-chr22:30772138..30775755,4	K562	blood:
2	chr22:30772557..30775674-chr22:30775726..30779748,4	K562	blood:

Variant related genes	Relation type
ENSG00000241528	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12157860	1.00[AMR][1000 genomes]
rs57907583	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997621	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997635	0.88[AFR][1000 genomes]
rs7287885	1.00[AMR][1000 genomes]
rs7291572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881407	1.00[AMR][1000 genomes]
rs73881419	1.00[AMR][1000 genomes]
rs73881429	1.00[AMR][1000 genomes]
rs73881440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137033	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8142835	0.88[AFR][1000 genomes];1.00[AMR][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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753400-30775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:30753400-30776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
5	chr22:30753600-30775400	Weak transcription	Colon Smooth Muscle	Colon
6	chr22:30753600-30775400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:30753600-30776200	Weak transcription	Thymus	Thymus
8	chr22:30753600-30779200	Weak transcription	Left Ventricle	heart
9	chr22:30753600-30779400	Weak transcription	NHEK	skin
10	chr22:30753600-30779600	Weak transcription	NH-A	brain
11	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
12	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
15	chr22:30753800-30775400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr22:30754200-30775400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:30754200-30779200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:30754200-30782000	Weak transcription	Fetal Brain Male	brain
19	chr22:30755200-30775200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr22:30759400-30775400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr22:30759400-30775600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:30759600-30782200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr22:30762000-30782400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr22:30764000-30782200	Weak transcription	Right Atrium	heart
25	chr22:30766400-30782200	Weak transcription	Fetal Kidney	kidney
26	chr22:30767200-30779400	Weak transcription	HSMM	muscle
27	chr22:30767400-30779600	Weak transcription	HSMMtube	muscle
28	chr22:30768600-30781800	Strong transcription	Fetal Stomach	stomach
29	chr22:30769000-30775400	Weak transcription	Fetal Thymus	thymus
30	chr22:30769200-30782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr22:30769200-30782200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr22:30769600-30775400	Weak transcription	Ovary	ovary
33	chr22:30769600-30775400	Weak transcription	Pancreas	Pancrea
34	chr22:30769600-30775600	Weak transcription	Primary B cells from cord blood	blood
35	chr22:30769600-30780400	Strong transcription	Fetal Brain Female	brain
36	chr22:30770000-30775400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr22:30770000-30779200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr22:30770200-30781200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:30770400-30779600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:30770400-30780600	Strong transcription	Fetal Intestine Small	intestine
41	chr22:30770400-30780800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:30771200-30780400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr22:30771200-30780600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr22:30771200-30780600	Strong transcription	Brain Germinal Matrix	brain
45	chr22:30771200-30781000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr22:30771400-30777400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr22:30771400-30780800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr22:30771600-30780600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:30771600-30780800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:30772000-30780800	Strong transcription	Fetal Muscle Trunk	muscle

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