Variant report

Variant	rs9915902
Chromosome Location	chr17:19691424-19691425
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	chr17:19685995..19688527-chr17:19689304..19691590,2	K562	blood:

Variant related genes	Relation type
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12103837	1.00[AMR][1000 genomes]
rs16960425	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28416178	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28491526	0.91[AFR][1000 genomes]
rs8064668	0.86[AFR][1000 genomes]
rs8064945	1.00[AMR][1000 genomes]
rs8072354	1.00[AMR][1000 genomes]
rs9889660	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9895806	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9897053	1.00[AMR][1000 genomes]
rs9905439	1.00[AMR][1000 genomes]
rs9905570	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9906047	0.96[AFR][1000 genomes]
rs9906125	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9906263	0.85[AFR][1000 genomes]
rs9910607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9912443	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9913673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9914597	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9914797	1.00[AMR][1000 genomes]
rs9915262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916309	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1061489	chr17:19654704-19705026	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19666000-19691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr17:19670200-19694200	Weak transcription	Right Ventricle	heart
3	chr17:19670200-19699400	Weak transcription	Psoas Muscle	Psoas
4	chr17:19673800-19769800	Weak transcription	NH-A	brain
5	chr17:19674000-19699200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:19674000-19699200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:19675200-19693000	Weak transcription	Small Intestine	intestine
8	chr17:19675200-19695600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr17:19675600-19693600	Strong transcription	Fetal Muscle Leg	muscle
10	chr17:19676800-19691800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:19676800-19697000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr17:19676800-19699400	Weak transcription	Thymus	Thymus
13	chr17:19677200-19691600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:19677400-19696200	Weak transcription	Fetal Heart	heart
15	chr17:19677600-19696200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr17:19677800-19700000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:19678000-19698400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr17:19678200-19698800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:19678200-19712000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:19678400-19692000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr17:19678800-19691800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:19678800-19698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:19678800-19699200	Weak transcription	Colonic Mucosa	Colon
24	chr17:19679200-19696400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:19679200-19699400	Strong transcription	Fetal Stomach	stomach
26	chr17:19679600-19700000	Weak transcription	HMEC	breast
27	chr17:19679600-19701000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:19680000-19697200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:19680000-19726800	Weak transcription	NHLF	lung
30	chr17:19680600-19696600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr17:19680600-19698800	Weak transcription	HUVEC	blood vessel
32	chr17:19682200-19699400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr17:19682400-19699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:19684000-19696800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:19684600-19693800	Weak transcription	Fetal Brain Male	brain
36	chr17:19685200-19695600	Weak transcription	NHDF-Ad	bronchial
37	chr17:19685400-19691800	Weak transcription	Aorta	Aorta
38	chr17:19685600-19691600	Weak transcription	NHEK	skin
39	chr17:19685600-19692000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:19686000-19691800	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr17:19686000-19696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr17:19686400-19692600	Weak transcription	Fetal Kidney	kidney
43	chr17:19687200-19691800	Weak transcription	Colon Smooth Muscle	Colon
44	chr17:19688400-19691800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:19689000-19698800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr17:19690000-19692800	Strong transcription	Fetal Intestine Small	intestine
47	chr17:19690200-19698800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:19690200-19709000	Strong transcription	Adipose Nuclei	Adipose
49	chr17:19690400-19693600	Strong transcription	Lung	lung
50	chr17:19690600-19691600	Genic enhancers	Fetal Muscle Trunk	muscle

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