Variant report

Variant	rs72847789
Chromosome Location	chr17:66513780-66513781
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66509415..66511474-chr17:66513629..66516121,3	K562	blood:

Variant related genes	Relation type
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10468444	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10491176	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16972996	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16973034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2015212	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302235	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785905	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55736761	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56112060	0.82[ASN][1000 genomes]
rs7221724	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847781	0.85[ASN][1000 genomes]
rs72847782	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72847784	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72847785	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847787	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72847790	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72847794	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847801	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74000753	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8067357	0.82[ASN][1000 genomes]
rs8072598	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8082254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932935	chr17:66511434-66518806	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv933839	chr17:66511434-66518903	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66509600-66525800	Weak transcription	Pancreas	Pancrea
2	chr17:66509800-66514200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:66511200-66514000	Strong transcription	K562	blood
4	chr17:66511200-66514200	Strong transcription	Placenta	Placenta
5	chr17:66511200-66515400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr17:66511200-66516800	Strong transcription	Fetal Thymus	thymus
7	chr17:66511400-66513800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr17:66511400-66514200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr17:66511400-66514200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr17:66511400-66514200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:66511400-66514600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr17:66511400-66514800	Strong transcription	Dnd41	blood
13	chr17:66511400-66515000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
14	chr17:66511400-66516200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:66511400-66516400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr17:66511400-66516600	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr17:66511600-66514200	Genic enhancers	HepG2	liver
18	chr17:66511600-66514600	Strong transcription	Primary B cells from cord blood	blood
19	chr17:66511600-66514800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:66511600-66515200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:66511600-66516400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:66511600-66516400	Strong transcription	A549	lung
23	chr17:66511600-66516800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:66511600-66537000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:66511800-66513800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:66511800-66513800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
28	chr17:66511800-66513800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr17:66511800-66514000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:66511800-66514000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr17:66511800-66514200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr17:66511800-66514400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr17:66511800-66514400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:66511800-66514400	Genic enhancers	Adipose Nuclei	Adipose
35	chr17:66511800-66514800	Strong transcription	Rectal Smooth Muscle	rectum
36	chr17:66511800-66514800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr17:66511800-66515200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:66511800-66515600	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr17:66511800-66516000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr17:66511800-66516000	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr17:66511800-66516000	Strong transcription	HSMMtube	muscle
42	chr17:66511800-66516200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr17:66511800-66516200	Strong transcription	Hela-S3	cervix
44	chr17:66511800-66516400	Strong transcription	NH-A	brain
45	chr17:66511800-66516600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:66511800-66516600	Strong transcription	NHEK	skin
47	chr17:66511800-66518800	Weak transcription	Small Intestine	intestine
48	chr17:66511800-66522200	Weak transcription	Fetal Brain Male	brain
49	chr17:66511800-66531600	Strong transcription	Fetal Intestine Large	intestine
50	chr17:66511800-66536600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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