Variant report

Variant	rs13302469
Chromosome Location	chr9:102929942-102929943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:102928719..102931387-chr9:102934032..102935585,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11998985	0.91[EUR][1000 genomes]
rs13284374	0.91[EUR][1000 genomes]
rs13286077	0.91[EUR][1000 genomes]
rs13287099	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13290328	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13290330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13290800	0.91[EUR][1000 genomes]
rs13293829	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13294600	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs13296977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13297769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13298673	0.91[EUR][1000 genomes]
rs13300128	0.91[EUR][1000 genomes]
rs13301192	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13302253	0.91[EUR][1000 genomes]
rs34069247	0.91[EUR][1000 genomes]
rs34089428	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34092424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34104764	0.91[EUR][1000 genomes]
rs34179958	0.91[EUR][1000 genomes]
rs34314753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34332248	0.91[EUR][1000 genomes]
rs34407044	0.91[EUR][1000 genomes]
rs34553251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34622900	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34696628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34727324	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34821647	0.91[EUR][1000 genomes]
rs34831686	0.82[EUR][1000 genomes]
rs34872449	0.91[EUR][1000 genomes]
rs34919065	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35051712	0.82[EUR][1000 genomes]
rs35123004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35166393	0.91[EUR][1000 genomes]
rs35415036	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35427402	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35439180	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35550115	0.91[EUR][1000 genomes]
rs35563956	0.91[EUR][1000 genomes]
rs35575118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35747178	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35747546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35801424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35970442	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35982519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35998454	0.91[EUR][1000 genomes]
rs36068962	0.91[EUR][1000 genomes]
rs36082352	0.91[EUR][1000 genomes]
rs36148968	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71507670	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71507673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71507674	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71507676	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs71507677	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs71507679	0.91[EUR][1000 genomes]
rs71507680	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:102874200-102937600	Weak transcription	Aorta	Aorta
2	chr9:102879800-102935000	Weak transcription	Ovary	ovary
3	chr9:102883000-102937600	Weak transcription	Fetal Intestine Large	intestine
4	chr9:102885200-102932600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:102886000-102931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:102889200-102936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:102889600-102934600	Weak transcription	Fetal Intestine Small	intestine
8	chr9:102891800-102935200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr9:102893000-102934600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:102893800-102936200	Weak transcription	Primary B cells from cord blood	blood
11	chr9:102912400-102937800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:102912800-102936200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:102913200-102935400	Weak transcription	Fetal Lung	lung
14	chr9:102913400-102930000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:102914400-102932000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:102914600-102940600	Weak transcription	HSMMtube	muscle
17	chr9:102915200-102934800	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:102915200-102935400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:102916200-102935400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:102916200-102941400	Weak transcription	HepG2	liver
21	chr9:102916400-102932400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:102916400-102934800	Weak transcription	Left Ventricle	heart
23	chr9:102916400-102938200	Weak transcription	Adipose Nuclei	Adipose
24	chr9:102917400-102935000	Weak transcription	Liver	Liver
25	chr9:102917400-102936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr9:102918200-102930800	Weak transcription	Gastric	stomach
27	chr9:102919400-102936000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:102920600-102936000	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:102921200-102934800	Weak transcription	Psoas Muscle	Psoas
30	chr9:102921200-102938800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:102922600-102935200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:102922800-102935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:102922800-102936000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:102923000-102930400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:102924200-102930200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:102924200-102935400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr9:102928600-102934800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr9:102929000-102935000	Weak transcription	Primary T cells from cord blood	blood
39	chr9:102929200-102930400	Enhancers	Muscle Satellite Cultured Cells	--
40	chr9:102929200-102930600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:102929600-102930800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:102929600-102938000	Weak transcription	Thymus	Thymus
43	chr9:102929800-102932200	Weak transcription	HUVEC	blood vessel

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