Variant report

Variant	rs7291198
Chromosome Location	chr22:33108058-33108059
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32211896-32215168..22:33105668-33108370	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000236132	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10854627	0.95[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10854628	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11089591	0.86[ASN][1000 genomes]
rs11913403	0.89[ASN][1000 genomes]
rs13054529	0.84[CHD][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13058500	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs1475978	0.86[JPT][hapmap];1.00[MEX][hapmap]
rs1475979	0.86[JPT][hapmap];0.82[MEX][hapmap]
rs16991028	0.86[JPT][hapmap];1.00[MEX][hapmap];0.80[ASN][1000 genomes]
rs16991084	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.86[ASN][1000 genomes]
rs2899193	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3827339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4821089	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs5754222	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs5754226	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs5754227	0.86[CHB][hapmap]
rs7286819	0.90[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs7291090	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7291871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731933	0.87[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs743741	0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.86[ASN][1000 genomes]
rs743742	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.99[ASN][1000 genomes]
rs743744	0.83[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs743745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs8136470	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs9619301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs997120	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1064719	chr22:33028891-33159636	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv979672	chr22:33105500-33109433	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33103000-33113600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:33104400-33117000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:33105000-33108400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr22:33105000-33108400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr22:33105000-33108400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr22:33105200-33108400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:33105200-33110000	Weak transcription	Fetal Lung	lung
8	chr22:33105200-33110800	Weak transcription	HSMMtube	muscle
9	chr22:33105200-33113400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:33105200-33113800	Weak transcription	NH-A	brain
11	chr22:33105400-33108600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:33105400-33108600	Weak transcription	Fetal Muscle Leg	muscle
13	chr22:33105400-33110000	Weak transcription	Fetal Stomach	stomach
14	chr22:33105600-33108400	Weak transcription	Adipose Nuclei	Adipose
15	chr22:33105800-33108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:33105800-33108800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr22:33106200-33108200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:33106400-33109000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:33107600-33109400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr22:33107600-33110400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr22:33107800-33108200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr22:33107800-33109000	Enhancers	Spleen	Spleen
23	chr22:33107800-33110600	Enhancers	Placenta	Placenta
24	chr22:33107800-33111200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:33108000-33108800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:33108000-33110400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:33108000-33110400	Enhancers	NHDF-Ad	bronchial
28	chr22:33108000-33111400	Enhancers	Osteobl	bone

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