Variant report

Variant	rs10817453
Chromosome Location	chr9:115943003-115943004
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115935810..115938271-chr9:115941276..115943911,2	K562	blood:
2	chr9:115942350..115944024-chr9:115948967..115951918,2	K562	blood:

Variant related genes	Relation type
ENSG00000119321	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10981666	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10981669	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10981670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10981671	0.91[YRI][hapmap]
rs10981673	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs34493639	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810909	0.91[YRI][hapmap]
rs3810911	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827673	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866724	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1035406	chr9:115883978-116003980	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540201	chr9:115883978-116003980	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1042663	chr9:115920158-116167140	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv893744	chr9:115934852-116170227	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115917800-115949400	Strong transcription	Placenta	Placenta
2	chr9:115918400-115947200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:115919200-115950800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr9:115919400-115950800	Strong transcription	Primary T cells from cord blood	blood
5	chr9:115919400-115954200	Strong transcription	Fetal Intestine Large	intestine
6	chr9:115920000-115950200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr9:115920000-115951400	Strong transcription	Fetal Muscle Trunk	muscle
8	chr9:115920000-115970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:115920000-115973400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr9:115920200-115956600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:115920400-115973400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:115920800-115966400	Strong transcription	Dnd41	blood
13	chr9:115920800-115975000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:115921800-115951000	Strong transcription	Fetal Thymus	thymus
15	chr9:115922800-115956400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:115923000-115956200	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr9:115923400-115976400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr9:115923600-115953600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr9:115923800-115950600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr9:115923800-115951600	Strong transcription	HepG2	liver
21	chr9:115924000-115965800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:115924200-115969600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:115926000-115956200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:115926600-115951000	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:115927200-115953600	Strong transcription	Fetal Lung	lung
26	chr9:115927600-115949400	Strong transcription	Adipose Nuclei	Adipose
27	chr9:115927600-115973400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:115927800-115951000	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr9:115929400-115951400	Strong transcription	Liver	Liver
30	chr9:115929800-115950000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr9:115931800-115946600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:115932000-115945000	Weak transcription	Stomach Mucosa	stomach
33	chr9:115932200-115945000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:115933400-115944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr9:115936000-115950000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:115936800-115944400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:115936800-115982400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr9:115937200-115949400	Strong transcription	Primary B cells from cord blood	blood
39	chr9:115938000-115947200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:115938000-115949600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:115938000-115953000	Strong transcription	Stomach Smooth Muscle	stomach
42	chr9:115938200-115947400	Strong transcription	Brain Cingulate Gyrus	brain
43	chr9:115938200-115951000	Strong transcription	Rectal Smooth Muscle	rectum
44	chr9:115938400-115951000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:115938400-115951000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr9:115938400-115953200	Strong transcription	K562	blood
47	chr9:115938800-115947200	Strong transcription	Brain Hippocampus Middle	brain
48	chr9:115938800-115949400	Strong transcription	Brain Anterior Caudate	brain
49	chr9:115938800-115950200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr9:115938800-115950200	Strong transcription	Left Ventricle	heart

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