Variant report

Variant	rs12373126
Chromosome Location	chr17:46236309-46236310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr17:46236227-46236414	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46227948..46230342-chr17:46234460..46237346,3	K562	blood:

Variant related genes	Relation type
MIR1203	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs3805364	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805366	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3805368	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56937221	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66479254	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66490008	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66652835	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66727366	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66727715	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66743695	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66753385	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66950931	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67162925	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67230974	0.81[ASN][1000 genomes]
rs67275838	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67307876	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67412675	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67647500	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67940055	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67991353	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68092669	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68144131	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72825550	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72825592	0.91[AMR][1000 genomes]
rs73320817	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73320825	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73324737	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73332969	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[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:38 , 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	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
5	chr17:46228400-46236600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr17:46230200-46237400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:46230600-46245000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr17:46231000-46236600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:46231000-46243800	Weak transcription	Primary B cells from cord blood	blood
10	chr17:46231800-46238200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr17:46232000-46236600	Weak transcription	A549	lung
12	chr17:46232000-46238000	Weak transcription	Pancreas	Pancrea
13	chr17:46232000-46239000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr17:46232000-46239800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:46232400-46237000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:46233400-46238200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr17:46234000-46237000	Weak transcription	HSMMtube	muscle
18	chr17:46234000-46240600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr17:46234200-46236400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:46234200-46236400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr17:46234200-46236400	Weak transcription	Fetal Kidney	kidney
22	chr17:46234200-46236600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:46234200-46236800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr17:46234200-46238000	Weak transcription	Thymus	Thymus
25	chr17:46234400-46237600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr17:46234400-46238400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:46234400-46239600	Weak transcription	GM12878-XiMat	blood
28	chr17:46234400-46240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:46234600-46236400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:46234600-46236600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr17:46234600-46236800	Weak transcription	Primary T cells from cord blood	blood
32	chr17:46234800-46236400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:46235200-46236600	Weak transcription	Liver	Liver
34	chr17:46235600-46240600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:46236000-46241200	Enhancers	Fetal Intestine Large	intestine
36	chr17:46236000-46250200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr17:46236200-46236600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr17:46236200-46244200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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