Variant report

Variant	rs12343684
Chromosome Location	chr9:116782451-116782452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10982045	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12335772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2025391	0.87[EUR][1000 genomes]
rs3827675	0.93[CEU][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4979328	0.93[CEU][hapmap];0.94[EUR][1000 genomes]
rs4979334	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7023899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7023951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116733400-116800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:116736400-116783000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:116756800-116783800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:116757000-116783400	Weak transcription	Small Intestine	intestine
5	chr9:116764600-116797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:116765000-116783200	Weak transcription	NHEK	skin
7	chr9:116765800-116784400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:116766000-116784800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr9:116766000-116792600	Weak transcription	Stomach Mucosa	stomach
10	chr9:116766000-116798000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr9:116766200-116799000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr9:116766600-116811200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:116767200-116785800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:116768400-116794600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr9:116768800-116784800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:116769400-116790400	Weak transcription	Right Ventricle	heart
17	chr9:116773600-116809200	Weak transcription	Fetal Heart	heart
18	chr9:116774000-116791200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:116774000-116791200	Weak transcription	Fetal Brain Male	brain
20	chr9:116774200-116783800	Weak transcription	HMEC	breast
21	chr9:116774200-116798400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:116774600-116790400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr9:116775200-116783400	Weak transcription	NH-A	brain
24	chr9:116775400-116784800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr9:116775600-116783000	Strong transcription	Fetal Lung	lung
26	chr9:116776200-116789800	Strong transcription	HUVEC	blood vessel
27	chr9:116777800-116785000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr9:116778000-116785200	Strong transcription	NHDF-Ad	bronchial
29	chr9:116778400-116783000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:116778400-116783000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:116778400-116785000	Strong transcription	Primary hematopoietic stem cells	blood
32	chr9:116778400-116785400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:116778600-116782800	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr9:116778600-116783400	Strong transcription	Adipose Nuclei	Adipose
35	chr9:116778800-116782600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:116778800-116782600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:116778800-116782800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:116779000-116782600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:116779000-116783000	Strong transcription	Liver	Liver
40	chr9:116780000-116782800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr9:116780200-116798600	Weak transcription	Colonic Mucosa	Colon
42	chr9:116780400-116782600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr9:116780400-116783800	Weak transcription	Colon Smooth Muscle	Colon
44	chr9:116780600-116796800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:116780800-116784800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr9:116780800-116786800	Weak transcription	Left Ventricle	heart
47	chr9:116780800-116788000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:116780800-116788000	Weak transcription	Spleen	Spleen
49	chr9:116780800-116791000	Weak transcription	Gastric	stomach
50	chr9:116780800-116791000	Weak transcription	Pancreas	Pancrea

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