Variant report

Variant	rs72825550
Chromosome Location	chr17:46234053-46234054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12373126	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805364	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805366	0.93[ASN][1000 genomes]
rs3805368	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56937221	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66479254	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66490008	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66652835	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66727366	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66727715	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66743695	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66753385	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66950931	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67162925	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67230974	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67275838	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67307876	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67412675	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67647500	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67847113	0.81[ASN][1000 genomes]
rs67940055	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67991353	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68092669	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68144131	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72825592	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73320817	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73320825	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73324737	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73332969	0.80[AMR][1000 genomes];0.96[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
7	chr17:46222800-46234600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr17:46226400-46234600	Strong transcription	Primary T cells from cord blood	blood
9	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr17:46230800-46234200	Strong transcription	Thymus	Thymus
13	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
15	chr17:46231400-46234200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
16	chr17:46231600-46234400	Strong transcription	GM12878-XiMat	blood
17	chr17:46231800-46235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr17:46232000-46236600	Weak transcription	A549	lung
20	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
21	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr17:46232400-46237000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr17:46232600-46235400	Weak transcription	Fetal Intestine Large	intestine
25	chr17:46232800-46234600	Genic enhancers	Liver	Liver
26	chr17:46233000-46234600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr17:46233200-46234200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr17:46233200-46234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr17:46233200-46234200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:46233200-46234200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:46233200-46234200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:46233200-46234200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr17:46233200-46234200	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr17:46233200-46234400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:46233400-46234200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:46233400-46234200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:46233400-46234200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:46233400-46234400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr17:46233400-46234400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr17:46233400-46234400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
41	chr17:46233400-46238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr17:46233600-46234200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr17:46233600-46234200	Enhancers	Fetal Kidney	kidney
44	chr17:46233800-46234200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr17:46233800-46234200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:46233800-46234400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
47	chr17:46234000-46234200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr17:46234000-46234200	Enhancers	K562	blood
49	chr17:46234000-46237000	Weak transcription	HSMMtube	muscle
50	chr17:46234000-46240600	Weak transcription	Primary hematopoietic stem cells	blood

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