Variant report

Variant	rs1108683
Chromosome Location	chr17:66455904-66455905
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr17:66454374-66455921	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66286038..66290193-chr17:66450658..66456945,10	MCF-7	breast:
2	chr17:66268439..66270614-chr17:66454450..66456016,2	MCF-7	breast:
3	chr17:66242276..66246117-chr17:66451301..66455927,10	MCF-7	breast:
4	chr17:66451996..66456192-chr17:66506725..66511948,5	MCF-7	breast:
5	chr17:66247345..66250484-chr17:66454151..66455912,3	MCF-7	breast:
6	chr17:66455236..66457061-chr17:66507735..66510656,2	K562	blood:
7	chr17:66430901..66433765-chr17:66455627..66457195,2	K562	blood:
8	chr17:66452513..66457853-chr17:66506674..66510981,7	MCF-7	breast:

No data

Variant related genes	Relation type
WIPI1	TF binding region
ENSG00000108932	Chromatin interaction
ENSG00000196704	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000265100	Chromatin interaction
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153240	0.83[EUR][1000 genomes]
rs2909208	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2909210	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952293	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67556103	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs883622	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs888298	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.93[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	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1108683	WIPI1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66453600-66462000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:66454400-66457800	Weak transcription	Esophagus	oesophagus
3	chr17:66454400-66458400	Weak transcription	Gastric	stomach
4	chr17:66454400-66458800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:66454400-66458800	Weak transcription	Lung	lung
6	chr17:66454600-66456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr17:66454600-66456400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr17:66454600-66456400	Weak transcription	Left Ventricle	heart
9	chr17:66454600-66457000	Enhancers	Fetal Heart	heart
10	chr17:66454600-66457200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:66454600-66457600	Weak transcription	Spleen	Spleen
12	chr17:66454600-66457800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr17:66454600-66458800	Weak transcription	Pancreas	Pancrea
14	chr17:66454600-66459200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:66454600-66459400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr17:66454600-66459400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr17:66454600-66459400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr17:66454600-66459400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr17:66454600-66459400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:66454600-66464000	Weak transcription	Aorta	Aorta
21	chr17:66454600-66465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:66454600-66470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:66454800-66456000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:66454800-66456000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr17:66454800-66456000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:66454800-66456000	Weak transcription	Colonic Mucosa	Colon
27	chr17:66454800-66456000	Weak transcription	Fetal Thymus	thymus
28	chr17:66454800-66456200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr17:66454800-66456200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:66454800-66456200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:66454800-66456200	Weak transcription	Psoas Muscle	Psoas
32	chr17:66454800-66456400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:66454800-66456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:66454800-66456400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:66454800-66456400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr17:66454800-66456400	Weak transcription	Fetal Muscle Leg	muscle
37	chr17:66454800-66456400	Weak transcription	Right Ventricle	heart
38	chr17:66454800-66456400	Enhancers	Dnd41	blood
39	chr17:66454800-66456600	Weak transcription	Hela-S3	cervix
40	chr17:66454800-66456800	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:66454800-66456800	Weak transcription	HSMMtube	muscle
42	chr17:66454800-66457000	Weak transcription	Adipose Nuclei	Adipose
43	chr17:66454800-66457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr17:66454800-66457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr17:66454800-66457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr17:66454800-66457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:66454800-66457800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:66454800-66457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:66454800-66458600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr17:66454800-66458800	Weak transcription	H1 Cell Line	embryonic stem cell

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