Variant report

Variant	rs12942352
Chromosome Location	chr17:37648140-37648141
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37616678..37619383-chr17:37647432..37649877,2	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10445306	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10445307	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10491128	0.85[ASN][1000 genomes]
rs10775391	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1077715	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10852933	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11078898	0.81[ASN][1000 genomes]
rs11078900	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11078901	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11078902	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078903	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078904	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11078905	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11078906	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078907	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078910	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078911	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078912	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078913	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11078915	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11650081	0.82[ASN][1000 genomes]
rs11650146	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11654018	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11655531	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11657899	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11658219	0.81[ASN][1000 genomes]
rs11658678	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11659010	0.80[EUR][1000 genomes]
rs11867312	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11868029	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11868030	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11868133	0.82[ASN][1000 genomes]
rs11869323	0.81[ASN][1000 genomes]
rs11870631	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12150047	0.83[ASN][1000 genomes]
rs12150493	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12449852	0.81[ASN][1000 genomes]
rs12450559	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12451586	0.85[AMR][1000 genomes]
rs12452509	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12452682	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12452880	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12453397	0.81[AMR][1000 genomes]
rs12600625	0.83[ASN][1000 genomes]
rs12600751	0.85[ASN][1000 genomes]
rs12936646	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12936996	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12937703	0.85[ASN][1000 genomes]
rs12938099	0.83[ASN][1000 genomes]
rs12938268	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12939831	0.80[ASN][1000 genomes]
rs12942360	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12943928	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12947281	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12947620	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12948906	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12950666	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12952384	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13341996	0.81[ASN][1000 genomes]
rs2018026	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303316	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2338797	0.85[ASN][1000 genomes]
rs2338798	0.83[ASN][1000 genomes]
rs34363096	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34432983	0.85[ASN][1000 genomes]
rs34597616	0.84[ASN][1000 genomes]
rs34957982	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35112839	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35285898	0.85[ASN][1000 genomes]
rs35335692	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35497503	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35546703	0.81[ASN][1000 genomes]
rs35667594	0.84[EUR][1000 genomes]
rs36064019	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3889368	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4239222	0.82[ASN][1000 genomes]
rs4286140	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4357971	0.81[EUR][1000 genomes]
rs4390625	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4410117	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4462633	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4511574	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4794807	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4794810	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4794813	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4794814	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4795356	0.81[ASN][1000 genomes]
rs4795357	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4795359	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795364	0.87[ASN][1000 genomes]
rs4795367	0.83[ASN][1000 genomes]
rs4795369	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4795371	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4795376	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795377	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4795381	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4795382	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4795384	0.81[ASN][1000 genomes]
rs55660616	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55722796	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57399933	0.83[ASN][1000 genomes]
rs57448077	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61161659	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62075056	0.81[ASN][1000 genomes]
rs62077463	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62077464	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6503506	0.81[ASN][1000 genomes]
rs6503507	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6503513	0.86[ASN][1000 genomes]
rs6503515	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6503517	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6503518	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6503519	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68178216	0.81[ASN][1000 genomes]
rs7208714	0.82[ASN][1000 genomes]
rs7210488	0.82[ASN][1000 genomes]
rs7216086	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7218074	0.82[ASN][1000 genomes]
rs7219014	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7219294	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7221875	0.82[ASN][1000 genomes]
rs7223438	0.81[ASN][1000 genomes]
rs7223896	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225096	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7405667	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7405770	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7406928	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7501488	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7503069	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7503514	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7503705	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8065879	0.81[ASN][1000 genomes]
rs8065963	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8067511	0.82[ASN][1000 genomes]
rs8067884	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8072351	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8074276	0.84[ASN][1000 genomes]
rs8074855	0.83[ASN][1000 genomes]
rs8076494	0.81[ASN][1000 genomes]
rs8076546	0.85[ASN][1000 genomes]
rs8077104	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8079303	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8081780	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9646419	0.83[ASN][1000 genomes]
rs9892675	0.85[ASN][1000 genomes]
rs9894500	0.81[ASN][1000 genomes]
rs9896913	0.81[ASN][1000 genomes]
rs9898773	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9901219	0.86[ASN][1000 genomes]
rs9904919	0.86[ASN][1000 genomes]
rs9905432	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
10	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12942352	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs12942352	PGAP3	cis	Heart Left Ventricle	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
2	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:37624000-37680400	Weak transcription	Fetal Brain Male	brain
4	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr17:37627000-37661600	Strong transcription	Fetal Intestine Small	intestine
7	chr17:37628400-37682200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:37628600-37649000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:37628800-37649200	Weak transcription	Aorta	Aorta
10	chr17:37629000-37649000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr17:37629200-37649600	Weak transcription	Gastric	stomach
12	chr17:37629200-37655400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr17:37629400-37649000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr17:37630800-37657200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:37631000-37650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr17:37631600-37649200	Weak transcription	Pancreas	Pancrea
17	chr17:37631800-37649000	Weak transcription	Brain Anterior Caudate	brain
18	chr17:37634200-37688600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr17:37635000-37659200	Weak transcription	Stomach Mucosa	stomach
20	chr17:37635200-37680600	Weak transcription	Fetal Heart	heart
21	chr17:37636200-37685800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr17:37638400-37649000	Weak transcription	Brain Germinal Matrix	brain
23	chr17:37640400-37691000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:37641200-37649000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr17:37642000-37689600	Strong transcription	Fetal Thymus	thymus
26	chr17:37642600-37680400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr17:37643200-37659800	Weak transcription	Psoas Muscle	Psoas
28	chr17:37643200-37688600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr17:37643400-37689000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr17:37643800-37668800	Strong transcription	Fetal Stomach	stomach
31	chr17:37644000-37685200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:37644400-37648800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:37644400-37688200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr17:37644600-37651200	Weak transcription	NHEK	skin
35	chr17:37645000-37663200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr17:37645000-37663400	Strong transcription	Thymus	Thymus
37	chr17:37645000-37669200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr17:37645000-37689000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:37645000-37689600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr17:37645400-37685600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:37645600-37689200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr17:37645800-37654600	Strong transcription	Osteobl	bone
43	chr17:37646000-37661000	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr17:37646000-37684800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr17:37646000-37688400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr17:37646400-37653000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr17:37646400-37654400	Strong transcription	Primary T cells from cord blood	blood
48	chr17:37646400-37662400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:37646400-37664400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:37646400-37668800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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