Variant report

Variant	rs16908313
Chromosome Location	chr9:95112889-95112890
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	chr9:95111056..95113852-chr9:95145115..95147395,2	K562	blood:
2	chr9:95108255..95111304-chr9:95111404..95114657,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16908298	1.00[AMR][1000 genomes]
rs1868027	1.00[AMR][1000 genomes]
rs35161698	0.83[AFR][1000 genomes]
rs57050708	0.95[AFR][1000 genomes]
rs57507064	1.00[AMR][1000 genomes]
rs57537991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57720908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57829709	1.00[AFR][1000 genomes]
rs58545014	1.00[AMR][1000 genomes]
rs59203890	1.00[AMR][1000 genomes]
rs59274719	1.00[AMR][1000 genomes]
rs59491936	1.00[AMR][1000 genomes]
rs59541513	1.00[AMR][1000 genomes]
rs60502055	1.00[AMR][1000 genomes]
rs60556849	1.00[AMR][1000 genomes]
rs60863225	0.83[AFR][1000 genomes]
rs73516514	0.95[AFR][1000 genomes]
rs73516525	0.95[AFR][1000 genomes]
rs73516542	1.00[AFR][1000 genomes]
rs73516563	1.00[AFR][1000 genomes]
rs73516586	1.00[AMR][1000 genomes]
rs73516588	1.00[AMR][1000 genomes]
rs73516599	1.00[AMR][1000 genomes]
rs73518427	1.00[AMR][1000 genomes]
rs73518450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73518479	0.91[AFR][1000 genomes]
rs73518492	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73520521	0.92[AFR][1000 genomes]
rs73520537	0.90[AFR][1000 genomes]
rs73520599	0.83[AFR][1000 genomes]
rs7853817	1.00[AMR][1000 genomes]
rs7868362	1.00[AMR][1000 genomes]
rs7875329	0.85[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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95089400-95113200	Weak transcription	HUVEC	blood vessel
2	chr9:95089400-95116400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:95089600-95121800	Weak transcription	Fetal Heart	heart
4	chr9:95090400-95118200	Weak transcription	HepG2	liver
5	chr9:95091000-95120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:95100800-95116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:95101200-95113000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr9:95101600-95116600	Weak transcription	Brain Substantia Nigra	brain
9	chr9:95102000-95113200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:95102000-95114000	Weak transcription	Lung	lung
11	chr9:95102000-95116600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:95102000-95121000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:95102200-95117600	Weak transcription	Fetal Brain Female	brain
14	chr9:95102200-95121400	Weak transcription	A549	lung
15	chr9:95102400-95116200	Weak transcription	Aorta	Aorta
16	chr9:95102600-95113000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:95102600-95116200	Weak transcription	Primary T cells from cord blood	blood
18	chr9:95102600-95116400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:95102600-95116400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:95102600-95116600	Weak transcription	Thymus	Thymus
21	chr9:95102600-95120800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:95102800-95115000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr9:95102800-95115000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:95102800-95115200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:95102800-95116000	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr9:95104000-95116400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:95104200-95116400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:95104200-95118000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:95104200-95119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:95104200-95121200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:95104400-95114000	Weak transcription	K562	blood
32	chr9:95104600-95114200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr9:95104600-95115200	Weak transcription	Primary B cells from cord blood	blood
34	chr9:95104600-95115800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:95105200-95113000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:95106400-95113400	Weak transcription	Ovary	ovary
37	chr9:95109400-95114200	Strong transcription	Dnd41	blood
38	chr9:95109600-95115400	Weak transcription	Fetal Thymus	thymus
39	chr9:95110200-95115600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr9:95111000-95113800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr9:95111200-95116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr9:95111400-95115000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr9:95112000-95113000	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:95112000-95113200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr9:95112000-95113400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:95112000-95113400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr9:95112000-95113400	Enhancers	Rectal Smooth Muscle	rectum
48	chr9:95112000-95113400	Enhancers	NHLF	lung
49	chr9:95112200-95113200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:95112200-95113200	Enhancers	Fetal Kidney	kidney

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