Variant report

Variant	rs67275838
Chromosome Location	chr17:46233385-46233386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46224894..46227721-chr17:46229708..46233601,3	MCF-7	breast:

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];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805364	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3805366	0.93[ASN][1000 genomes]
rs3805368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56937221	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66479254	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66490008	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66652835	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66727366	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66727715	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66743695	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66753385	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66950931	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67162925	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67230974	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67307876	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67412675	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67647500	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67847113	0.81[ASN][1000 genomes]
rs67940055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67991353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68092669	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68144131	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72825550	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825592	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73320817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73320825	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73324737	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73332969	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[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:48 , 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	chr17:46227000-46233600	Weak transcription	Spleen	Spleen
10	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr17:46230800-46234200	Strong transcription	Thymus	Thymus
14	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
16	chr17:46231400-46234200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
17	chr17:46231600-46234400	Strong transcription	GM12878-XiMat	blood
18	chr17:46231800-46233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:46231800-46233600	Weak transcription	Fetal Kidney	kidney
20	chr17:46231800-46233800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr17:46231800-46233800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:46231800-46235200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:46232000-46233800	Weak transcription	K562	blood
25	chr17:46232000-46236600	Weak transcription	A549	lung
26	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
27	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:46232400-46237000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:46232600-46235400	Weak transcription	Fetal Intestine Large	intestine
31	chr17:46232800-46234600	Genic enhancers	Liver	Liver
32	chr17:46233000-46233400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
33	chr17:46233000-46234000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr17:46233000-46234600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr17:46233200-46233400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr17:46233200-46233400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr17:46233200-46233600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
38	chr17:46233200-46233800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:46233200-46234000	Enhancers	Primary hematopoietic stem cells	blood
40	chr17:46233200-46234000	Enhancers	HSMMtube	muscle
41	chr17:46233200-46234200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr17:46233200-46234200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:46233200-46234200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr17:46233200-46234200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:46233200-46234200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr17:46233200-46234200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr17:46233200-46234200	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr17:46233200-46234400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood

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