Variant report

Variant	rs66743695
Chromosome Location	chr17:46192857-46192858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12373126	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805364	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3805366	0.87[ASN][1000 genomes]
rs3805368	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56937221	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59493350	0.80[AMR][1000 genomes]
rs61197535	0.80[AMR][1000 genomes]
rs66479254	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66490008	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66652835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66727366	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66727715	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66753385	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66950931	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67162925	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67230974	0.86[EUR][1000 genomes]
rs67275838	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67307876	0.93[EUR][1000 genomes]
rs67412675	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67647500	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67847113	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67940055	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67991353	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68092669	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68144131	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72825550	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72825592	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73320817	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73320825	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73324737	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73327306	0.80[AMR][1000 genomes]
rs73332969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
4	esv1007058	chr17:46188741-46200367	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46185800-46193000	Weak transcription	Gastric	stomach
2	chr17:46185800-46195800	Weak transcription	Ovary	ovary
3	chr17:46186000-46195200	Weak transcription	Aorta	Aorta
4	chr17:46186000-46196200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr17:46186000-46198600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr17:46186200-46193800	Weak transcription	Fetal Lung	lung
7	chr17:46186200-46195000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:46186200-46195200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr17:46186200-46196200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:46186200-46198600	Weak transcription	Fetal Brain Male	brain
11	chr17:46186200-46203600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:46186400-46193000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr17:46186400-46193000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr17:46186400-46193400	Weak transcription	Osteobl	bone
15	chr17:46186400-46193600	Weak transcription	HSMMtube	muscle
16	chr17:46186400-46194800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr17:46186400-46195000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr17:46186400-46195000	Weak transcription	HSMM	muscle
19	chr17:46186400-46195000	Weak transcription	NHDF-Ad	bronchial
20	chr17:46186400-46195200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr17:46186400-46195400	Weak transcription	Brain Angular Gyrus	brain
22	chr17:46186400-46195400	Weak transcription	NH-A	brain
23	chr17:46186400-46196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr17:46186400-46196000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr17:46186400-46198600	Weak transcription	Small Intestine	intestine
26	chr17:46186400-46198800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr17:46186600-46195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:46186600-46195200	Weak transcription	Stomach Mucosa	stomach
29	chr17:46186600-46196000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr17:46187600-46198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:46188200-46195000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr17:46188200-46201200	Strong transcription	Fetal Intestine Small	intestine
33	chr17:46188200-46207400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr17:46188400-46195000	Weak transcription	Brain Substantia Nigra	brain
35	chr17:46188400-46201400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr17:46188600-46194800	Weak transcription	HUVEC	blood vessel
37	chr17:46188600-46195000	Weak transcription	Pancreas	Pancrea
38	chr17:46188600-46196200	Weak transcription	Psoas Muscle	Psoas
39	chr17:46189000-46202600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr17:46189200-46197800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:46189200-46199000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:46189400-46198600	Strong transcription	Brain Anterior Caudate	brain
43	chr17:46189400-46204200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:46189600-46198800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:46189600-46200600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:46189600-46201800	Strong transcription	Fetal Muscle Leg	muscle
47	chr17:46189800-46193600	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr17:46189800-46194200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:46189800-46202000	Strong transcription	Fetal Stomach	stomach
50	chr17:46190000-46193800	Strong transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links