Variant report

Variant	rs60171801
Chromosome Location	chr17:37462789-37462790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1046632	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12951142	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16965088	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16965115	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968705	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16968717	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16968720	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34249490	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35622913	0.89[EUR][1000 genomes]
rs4412996	1.00[ASN][1000 genomes]
rs55927957	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55938401	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55976670	0.83[EUR][1000 genomes]
rs56058902	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56102014	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56143149	1.00[ASN][1000 genomes]
rs56161258	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56236848	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56257093	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56315211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56387221	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57009492	0.83[EUR][1000 genomes]
rs58195267	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58225361	0.84[AFR][1000 genomes]
rs59085142	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59110119	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59585619	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59837361	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59869016	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59925505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61067673	0.82[AFR][1000 genomes]
rs67819651	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67966109	0.83[EUR][1000 genomes]
rs67971355	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68055032	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219814	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823393	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72825103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72825105	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72825116	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72825148	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72825164	1.00[ASN][1000 genomes]
rs72825178	1.00[ASN][1000 genomes]
rs72825188	0.87[ASN][1000 genomes]
rs72825189	0.87[ASN][1000 genomes]
rs72825194	0.87[ASN][1000 genomes]
rs755499	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8066698	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8069438	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8076041	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057470	chr17:37135183-37549816	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv543339	chr17:37135183-37549816	Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	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
4	nsv833441	chr17:37320807-37476796	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1061084	chr17:37333956-37501598	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	nsv1055612	chr17:37409865-37563236	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv510709	chr17:37438419-37508395	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
14	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
15	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60171801	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
2	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
4	chr17:37426800-37468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
6	chr17:37435600-37469400	Weak transcription	Gastric	stomach
7	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:37438800-37463000	Weak transcription	NHDF-Ad	bronchial
10	chr17:37439000-37462800	Weak transcription	NH-A	brain
11	chr17:37439200-37462800	Weak transcription	Fetal Heart	heart
12	chr17:37444000-37478400	Weak transcription	Psoas Muscle	Psoas
13	chr17:37453400-37463200	Weak transcription	NHLF	lung
14	chr17:37453400-37507800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr17:37454000-37511600	Weak transcription	Hela-S3	cervix
16	chr17:37454600-37473600	Weak transcription	Brain Substantia Nigra	brain
17	chr17:37454800-37464400	Weak transcription	Aorta	Aorta
18	chr17:37454800-37471800	Weak transcription	Left Ventricle	heart
19	chr17:37454800-37473800	Weak transcription	Spleen	Spleen
20	chr17:37454800-37474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:37455000-37463000	Weak transcription	Brain Angular Gyrus	brain
22	chr17:37455000-37463200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:37455000-37463200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr17:37455000-37464600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr17:37455200-37463200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:37455200-37499800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr17:37455400-37477400	Weak transcription	Ovary	ovary
28	chr17:37455400-37485200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:37455400-37495600	Weak transcription	Right Ventricle	heart
30	chr17:37455600-37484800	Weak transcription	Fetal Kidney	kidney
31	chr17:37455800-37463200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:37455800-37495600	Weak transcription	Brain Germinal Matrix	brain
33	chr17:37456200-37499400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:37456400-37479800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:37457400-37463000	Weak transcription	HSMM	muscle
36	chr17:37457400-37463600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr17:37457600-37462800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:37457600-37463000	Weak transcription	Fetal Lung	lung
39	chr17:37457600-37471800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr17:37457600-37497800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr17:37458000-37495000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr17:37458400-37472000	Weak transcription	Placenta	Placenta
43	chr17:37458800-37476200	Weak transcription	Fetal Brain Female	brain
44	chr17:37459400-37472200	Weak transcription	K562	blood
45	chr17:37459400-37474200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr17:37459400-37491000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:37459400-37495600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr17:37459600-37471800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:37459800-37462800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr17:37459800-37472400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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