Variant report

Variant	rs1427383
Chromosome Location	chr22:33261808-33261809
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
2	chr22:33257978..33261996-chr22:33266633..33269916,3	K562	blood:
3	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:
4	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
5	22:31961151-31976153..22:33253287-33262063	K562	blood:
6	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:
7	chr22:33196558..33199719-chr22:33257750..33262273,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271093	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100234	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000205856	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1065314	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1427378	0.85[AMR][1000 genomes]
rs1427379	0.85[AMR][1000 genomes]
rs1427384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1543803	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1543804	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2040435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040436	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2040437	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2040438	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2267184	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28456229	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2899196	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5749529	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5749531	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5749532	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754315	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs933255	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9621584	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3599	chr22:33230106-33274789	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1059368	chr22:33249121-33268782	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
3	chr22:33244200-33262000	Weak transcription	Brain Germinal Matrix	brain
4	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr22:33245800-33264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:33249800-33262800	Weak transcription	Brain Angular Gyrus	brain
7	chr22:33255200-33263800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:33255800-33262000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr22:33256000-33262200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr22:33256000-33263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:33256000-33265200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:33256200-33264800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr22:33256400-33264400	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:33256400-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:33256800-33264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:33257200-33262200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:33257800-33264200	Weak transcription	NHDF-Ad	bronchial
18	chr22:33257800-33269600	Weak transcription	Fetal Intestine Small	intestine
19	chr22:33257800-33270000	Weak transcription	Fetal Intestine Large	intestine
20	chr22:33257800-33282000	Weak transcription	HepG2	liver
21	chr22:33258000-33262400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:33258200-33266600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr22:33258400-33262800	Weak transcription	Spleen	Spleen
24	chr22:33258400-33266800	Weak transcription	Aorta	Aorta
25	chr22:33258400-33267200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:33258800-33262200	Weak transcription	Osteobl	bone
27	chr22:33259000-33265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:33259000-33270800	Weak transcription	Fetal Lung	lung
29	chr22:33259400-33262000	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr22:33259400-33263400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr22:33259400-33270200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr22:33260200-33263000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr22:33260400-33262000	Weak transcription	Fetal Heart	heart
34	chr22:33260400-33264800	Weak transcription	Fetal Stomach	stomach
35	chr22:33260800-33264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:33261200-33262600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr22:33261200-33270400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:33261400-33264800	Weak transcription	Placenta	Placenta

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