Variant report

Variant	rs16965644
Chromosome Location	chr17:38264197-38264198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38263117..38266703-chr17:38295355..38298359,3	K562	blood:
2	chr17:38188851..38191376-chr17:38262046..38264469,2	K562	blood:
3	chr17:38241415..38245258-chr17:38262802..38266509,3	K562	blood:

Variant related genes	Relation type
ENSG00000108349	Chromatin interaction
ENSG00000008838	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17678928	1.00[GIH][hapmap];0.95[TSI][hapmap]
rs9898129	0.81[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv520636	chr17:38254689-38264197	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16965644	RAPGEFL1	cis	lymphoblastoid	seeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38256800-38269800	Weak transcription	Aorta	Aorta
2	chr17:38257400-38267200	Enhancers	Fetal Muscle Trunk	muscle
3	chr17:38257400-38267200	Enhancers	Fetal Muscle Leg	muscle
4	chr17:38257400-38267400	Enhancers	Fetal Intestine Small	intestine
5	chr17:38257400-38267800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr17:38257400-38269600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:38257400-38269600	Enhancers	Fetal Thymus	thymus
8	chr17:38257600-38264600	Enhancers	Psoas Muscle	Psoas
9	chr17:38257600-38265800	Enhancers	Thymus	Thymus
10	chr17:38257600-38267200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:38257600-38267400	Enhancers	Primary T cells from cord blood	blood
12	chr17:38257600-38267600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:38257600-38269600	Enhancers	Fetal Intestine Large	intestine
14	chr17:38257600-38269600	Enhancers	Placenta	Placenta
15	chr17:38257800-38266000	Enhancers	Stomach Mucosa	stomach
16	chr17:38259000-38264400	Enhancers	K562	blood
17	chr17:38259000-38265000	Enhancers	Fetal Kidney	kidney
18	chr17:38259000-38266000	Enhancers	Esophagus	oesophagus
19	chr17:38259000-38267400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:38259000-38267600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr17:38259000-38267600	Enhancers	HSMM	muscle
22	chr17:38259000-38269600	Enhancers	Fetal Stomach	stomach
23	chr17:38259200-38266000	Enhancers	Lung	lung
24	chr17:38259400-38265000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:38259400-38265200	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr17:38259400-38269600	Enhancers	Primary hematopoietic stem cells	blood
27	chr17:38259800-38267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:38260600-38264800	Enhancers	Liver	Liver
29	chr17:38260800-38265800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr17:38260800-38269600	Enhancers	Left Ventricle	heart
31	chr17:38261000-38264800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
32	chr17:38261000-38267400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr17:38261000-38267400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr17:38261200-38264600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:38261400-38264200	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr17:38261400-38264400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr17:38261400-38265400	Enhancers	Spleen	Spleen
38	chr17:38261600-38264800	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr17:38261800-38264600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:38261800-38266000	Weak transcription	Hela-S3	cervix
41	chr17:38261800-38269600	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr17:38262000-38264400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr17:38262000-38264600	Enhancers	Brain Substantia Nigra	brain
44	chr17:38262000-38267800	Enhancers	Small Intestine	intestine
45	chr17:38262200-38264400	Enhancers	Primary B cells from peripheral blood	blood
46	chr17:38262200-38264400	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr17:38262200-38264400	Enhancers	Right Atrium	heart
48	chr17:38262200-38264800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
49	chr17:38262200-38265000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:38262200-38265800	Enhancers	Right Ventricle	heart

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