Variant report

Variant	rs12686023
Chromosome Location	chr9:116333408-116333409
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116330662..116332537-chr9:116332997..116335560,3	K562	blood:
2	chr9:116323155..116326442-chr9:116332944..116335753,3	MCF-7	breast:
3	chr9:116333088..116336019-chr9:116339931..116343019,3	MCF-7	breast:
4	chr9:116332920..116337518-chr9:116339204..116343938,8	MCF-7	breast:
5	chr9:116326448..116328415-chr9:116331017..116333721,2	MCF-7	breast:
6	chr9:116331552..116333481-chr9:116417834..116420426,2	K562	blood:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

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

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

rs_ID	r²[population]
rs10739393	0.92[JPT][hapmap]
rs12350531	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs12685417	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17187621	0.88[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs4979253	0.84[JPT][hapmap]
rs4979261	0.92[JPT][hapmap]
rs518636	0.88[CHB][hapmap];0.92[JPT][hapmap]
rs58449392	1.00[ASN][1000 genomes]
rs72763856	0.82[ASN][1000 genomes]
rs818714	0.92[JPT][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	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
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116323200-116334800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr9:116323200-116339000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:116323400-116336200	Weak transcription	Primary T cells from cord blood	blood
4	chr9:116323400-116339400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:116325800-116339800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:116326200-116339600	Weak transcription	HUVEC	blood vessel
7	chr9:116328400-116339800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:116328600-116336600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:116328600-116339600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr9:116328800-116334200	Weak transcription	K562	blood
11	chr9:116328800-116336600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:116328800-116337000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:116329000-116333800	Enhancers	Fetal Heart	heart
14	chr9:116329000-116339800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:116329200-116339800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:116329200-116341600	Weak transcription	Fetal Intestine Large	intestine
17	chr9:116329400-116335600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:116329400-116336400	Weak transcription	Osteobl	bone
19	chr9:116329400-116340800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:116330000-116334200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr9:116330400-116333600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:116330800-116335400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:116330800-116335600	Weak transcription	Colonic Mucosa	Colon
24	chr9:116331400-116334200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:116331400-116334600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:116331400-116335600	Enhancers	Stomach Mucosa	stomach
27	chr9:116331800-116334200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr9:116331800-116334400	Weak transcription	Brain Angular Gyrus	brain
29	chr9:116331800-116334400	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:116331800-116334400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr9:116331800-116334400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr9:116331800-116334400	Weak transcription	Ovary	ovary
33	chr9:116331800-116334400	Weak transcription	Pancreas	Pancrea
34	chr9:116331800-116334400	Weak transcription	HSMM	muscle
35	chr9:116331800-116334600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr9:116331800-116334600	Weak transcription	Spleen	Spleen
37	chr9:116331800-116336400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:116331800-116336600	Weak transcription	NHLF	lung
39	chr9:116331800-116340600	Weak transcription	Small Intestine	intestine
40	chr9:116332000-116340400	Weak transcription	Fetal Lung	lung
41	chr9:116332200-116334200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr9:116332200-116334400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:116332200-116334400	Weak transcription	Fetal Intestine Small	intestine
44	chr9:116332200-116334600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr9:116332400-116334200	Weak transcription	Right Atrium	heart
46	chr9:116332400-116335400	Weak transcription	Psoas Muscle	Psoas
47	chr9:116332400-116336800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:116332400-116339800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:116332600-116334000	Enhancers	NHEK	skin
50	chr9:116332600-116334200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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