Variant report

Variant	rs56387221
Chromosome Location	chr17:37437147-37437148
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1046632	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12951142	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965115	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16968705	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968717	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968720	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34249490	0.92[EUR][1000 genomes]
rs35622913	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55927957	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55938401	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56058902	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161258	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56236848	0.87[EUR][1000 genomes]
rs56257093	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56315211	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195267	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58225361	0.82[AFR][1000 genomes]
rs59085142	0.87[EUR][1000 genomes]
rs59110119	0.86[EUR][1000 genomes]
rs59585619	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59837361	0.86[EUR][1000 genomes]
rs59869016	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59925505	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171801	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61067673	0.84[AFR][1000 genomes]
rs67819651	0.86[EUR][1000 genomes]
rs67971355	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs68055032	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219814	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72823393	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825103	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825105	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825116	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755499	0.97[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066698	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8069438	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076041	0.86[EUR][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56387221	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37401400-37437400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:37407200-37439200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:37408000-37440200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:37408000-37441600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:37408000-37463000	Weak transcription	Small Intestine	intestine
6	chr17:37408200-37442400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:37408400-37437400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr17:37409000-37438800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr17:37409400-37437400	Weak transcription	HUVEC	blood vessel
10	chr17:37409800-37437400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr17:37409800-37464000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:37410000-37437200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:37411600-37437400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr17:37415000-37443600	Weak transcription	Psoas Muscle	Psoas
15	chr17:37417400-37458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr17:37417600-37437400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:37417600-37460800	Weak transcription	Fetal Brain Male	brain
18	chr17:37418000-37437200	Weak transcription	Stomach Mucosa	stomach
19	chr17:37418400-37440800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
21	chr17:37426200-37453800	Weak transcription	Aorta	Aorta
22	chr17:37426600-37437400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:37426600-37460800	Weak transcription	Colonic Mucosa	Colon
24	chr17:37426800-37468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:37429200-37439400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr17:37430800-37462600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr17:37431000-37443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr17:37431200-37450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:37431200-37453200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:37431200-37453200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:37431200-37453200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr17:37431200-37462600	Weak transcription	Colon Smooth Muscle	Colon
33	chr17:37431400-37438600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:37431400-37443600	Weak transcription	Left Ventricle	heart
35	chr17:37431400-37452800	Weak transcription	Dnd41	blood
36	chr17:37431400-37453000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr17:37431400-37453200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:37431400-37453200	Weak transcription	Brain Substantia Nigra	brain
39	chr17:37431400-37453600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr17:37431400-37453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
42	chr17:37431600-37442000	Weak transcription	Brain Germinal Matrix	brain
43	chr17:37431600-37453000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:37431600-37453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr17:37431600-37453800	Weak transcription	Right Ventricle	heart
46	chr17:37432800-37437600	Strong transcription	Fetal Muscle Trunk	muscle
47	chr17:37433000-37438400	Strong transcription	Liver	Liver
48	chr17:37433000-37439200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:37433000-37439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr17:37433000-37441600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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