Variant report

Variant	rs2040435
Chromosome Location	chr22:33263431-33263432
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31936958-31958600..22:33262063-33266567	K562	blood:
2	22:32846948-32860159..22:33262063-33266567	Hela-S3	cervix:
3	chr22:33255086..33257693-chr22:33262193..33264201,2	K562	blood:

Variant related genes	Relation type
ENSG00000183531	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000214093	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1065314	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1427378	0.80[GIH][hapmap];0.83[MEX][hapmap];0.85[AMR][1000 genomes]
rs1427379	0.85[AMR][1000 genomes]
rs1427383	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]
rs1427384	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1543803	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][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]
rs2040436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2040437	0.86[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2040438	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2267184	0.86[GIH][hapmap];0.83[MEX][hapmap];0.82[TSI][hapmap];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];0.84[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5749531	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.89[GIH][hapmap];0.94[MEX][hapmap];0.85[TSI][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[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.85[TSI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5754322	0.89[MEX][hapmap]
rs933255	0.84[GIH][hapmap];0.94[MEX][hapmap];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:31 , 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	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:33245800-33264800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:33255200-33263800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:33256000-33263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr22:33256000-33265200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:33256200-33264800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:33256400-33264400	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:33256400-33269400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr22:33256800-33264800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr22:33257800-33264200	Weak transcription	NHDF-Ad	bronchial
13	chr22:33257800-33269600	Weak transcription	Fetal Intestine Small	intestine
14	chr22:33257800-33270000	Weak transcription	Fetal Intestine Large	intestine
15	chr22:33257800-33282000	Weak transcription	HepG2	liver
16	chr22:33258200-33266600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:33258400-33266800	Weak transcription	Aorta	Aorta
18	chr22:33258400-33267200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:33259000-33265800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:33259000-33270800	Weak transcription	Fetal Lung	lung
21	chr22:33259400-33270200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr22:33260400-33264800	Weak transcription	Fetal Stomach	stomach
23	chr22:33260800-33264800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:33261200-33270400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr22:33261400-33264800	Weak transcription	Placenta	Placenta
26	chr22:33262000-33265800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:33262200-33264400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:33262200-33266600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:33262600-33266600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:33263200-33268600	Weak transcription	K562	blood
31	chr22:33263400-33267200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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