Variant report

Variant	rs56257093
Chromosome Location	chr17:37575705-37575706
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	chr17:37575226..37577120-chr17:37579542..37581626,2	K562	blood:
2	chr17:37573618..37576333-chr17:37605022..37607708,2	K562	blood:

Variant related genes	Relation type
ENSG00000125686	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1046632	0.84[EUR][1000 genomes]
rs12951142	0.86[EUR][1000 genomes]
rs16965088	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965115	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968705	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34249490	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622913	0.80[EUR][1000 genomes]
rs4412996	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4611492	0.82[EUR][1000 genomes]
rs55927957	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55938401	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55976670	0.86[EUR][1000 genomes]
rs56058902	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56102014	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56143149	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161258	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56236848	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56315211	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56387221	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57009492	0.92[EUR][1000 genomes]
rs58195267	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59085142	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59110119	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59585619	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59837361	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59869016	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59925505	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60171801	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60403655	0.88[EUR][1000 genomes]
rs67466585	0.88[EUR][1000 genomes]
rs67819651	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67966109	0.86[EUR][1000 genomes]
rs67971355	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68055032	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7219814	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825103	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72825116	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72825148	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825164	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825178	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825188	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72825189	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72825194	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs755499	0.84[EUR][1000 genomes]
rs8066698	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8069438	0.92[EUR][1000 genomes]
rs8076041	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56257093	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37558400-37583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:37560800-37605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:37560800-37605400	Strong transcription	Fetal Thymus	thymus
5	chr17:37560800-37605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr17:37561000-37578400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:37561000-37585200	Strong transcription	Brain Germinal Matrix	brain
8	chr17:37561000-37604800	Strong transcription	Fetal Muscle Trunk	muscle
9	chr17:37561000-37604800	Strong transcription	Placenta	Placenta
10	chr17:37561000-37605200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:37561000-37605400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr17:37561200-37576600	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:37561200-37578400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:37561200-37578400	Strong transcription	Fetal Muscle Leg	muscle
15	chr17:37561200-37604400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:37561200-37604600	Strong transcription	Liver	Liver
17	chr17:37561200-37605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:37561200-37605200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr17:37561400-37588200	Strong transcription	HepG2	liver
20	chr17:37561400-37595400	Strong transcription	Thymus	Thymus
21	chr17:37561400-37604800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:37561400-37604800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr17:37561400-37605000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr17:37561600-37604600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr17:37561600-37605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:37561800-37577000	Strong transcription	Dnd41	blood
27	chr17:37561800-37587600	Strong transcription	Primary T cells from cord blood	blood
28	chr17:37561800-37604400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:37562000-37604400	Strong transcription	Adipose Nuclei	Adipose
30	chr17:37562000-37604600	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr17:37562000-37604600	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr17:37562200-37576200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:37562200-37604200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:37562200-37604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr17:37562200-37604600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr17:37562400-37576400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr17:37562400-37604200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr17:37562400-37604600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr17:37562400-37604600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:37562600-37584000	Strong transcription	Osteobl	bone
41	chr17:37562600-37604200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr17:37562800-37600400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:37563000-37586200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr17:37563000-37604600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr17:37563000-37604800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr17:37563600-37578000	Strong transcription	Fetal Intestine Large	intestine
47	chr17:37563800-37578400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:37563800-37605600	Strong transcription	Fetal Stomach	stomach
49	chr17:37563800-37606000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:37564000-37590000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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