Variant report

Variant	rs1338122
Chromosome Location	chr9:102966311-102966312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102963787..102966660-chr9:102967225..102969263,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1529194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs16918894	1.00[AMR][1000 genomes]
rs55773628	1.00[AMR][1000 genomes]
rs55813162	1.00[AMR][1000 genomes]
rs56265710	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57518655	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59679784	1.00[AMR][1000 genomes]
rs59700543	1.00[AMR][1000 genomes]
rs59730136	0.96[AFR][1000 genomes]
rs60045005	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61521457	1.00[AMR][1000 genomes]
rs61636243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6479012	1.00[ASW][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap]
rs73655135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73655139	0.96[AFR][1000 genomes]
rs73655140	0.88[AFR][1000 genomes]
rs73656926	1.00[AMR][1000 genomes]
rs73656927	1.00[AMR][1000 genomes]
rs73656929	1.00[AMR][1000 genomes]
rs73656930	1.00[AMR][1000 genomes]
rs73656932	1.00[AMR][1000 genomes]
rs73656933	1.00[AMR][1000 genomes]
rs73656934	1.00[AMR][1000 genomes]
rs73656935	1.00[AMR][1000 genomes]
rs73656937	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656938	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656939	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656951	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656954	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656955	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73656957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7847283	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7848856	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs7867381	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529618	chr9:102227922-103044018	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv1048674	chr9:102752236-103038259	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1052007	chr9:102766948-103033937	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv3366028	chr9:102947446-102973079	Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102940400-102978000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:102953000-102976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr9:102953800-102977600	Weak transcription	Fetal Stomach	stomach
4	chr9:102954600-102966600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:102954600-102967400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr9:102954600-102972200	Weak transcription	Primary B cells from cord blood	blood
7	chr9:102954600-102978000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr9:102954800-102967400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr9:102954800-102968600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:102954800-102972000	Weak transcription	Left Ventricle	heart
11	chr9:102955000-102988400	Weak transcription	Dnd41	blood
12	chr9:102955200-102999600	Weak transcription	Lung	lung
13	chr9:102956000-102972000	Weak transcription	GM12878-XiMat	blood
14	chr9:102956200-102983400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:102957200-102973200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:102957400-102977800	Weak transcription	Aorta	Aorta
17	chr9:102958800-103014400	Weak transcription	Hela-S3	cervix
18	chr9:102959000-102984400	Weak transcription	HepG2	liver
19	chr9:102959400-102967200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:102959800-102977600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:102959800-102977600	Weak transcription	Ovary	ovary
22	chr9:102959800-102994600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:102960000-102967200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:102960800-102978000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:102961400-102972000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:102962000-102989200	Weak transcription	Fetal Lung	lung
27	chr9:102964800-102988400	Weak transcription	Fetal Intestine Large	intestine
28	chr9:102965400-102976400	Weak transcription	Fetal Heart	heart

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