Variant report

Variant	rs12951142
Chromosome Location	chr17:37442928-37442929
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37440390..37443077-chr17:37445532..37447421,2	K562	blood:
2	chr17:37442218..37445626-chr17:37557595..37560949,3	MCF-7	breast:
3	chr17:37441688..37444603-chr17:37616423..37619369,2	K562	blood:

Variant related genes	Relation type
ENSG00000108306	Chromatin interaction
ENSG00000167258	Chromatin interaction
ENSG00000266469	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1046632	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965115	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16968705	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968717	1.00[ASN][1000 genomes]
rs16968720	1.00[ASN][1000 genomes]
rs34249490	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35622913	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55927957	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55938401	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56058902	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161258	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56236848	0.86[EUR][1000 genomes]
rs56257093	0.86[EUR][1000 genomes]
rs56315211	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56387221	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195267	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59085142	0.86[EUR][1000 genomes]
rs59110119	0.85[EUR][1000 genomes]
rs59585619	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59837361	0.85[EUR][1000 genomes]
rs59869016	0.86[EUR][1000 genomes]
rs59925505	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60171801	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60403655	0.80[EUR][1000 genomes]
rs67466585	0.80[EUR][1000 genomes]
rs67819651	0.85[EUR][1000 genomes]
rs67971355	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs68055032	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219814	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72823393	1.00[ASN][1000 genomes]
rs72825103	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72825105	1.00[ASN][1000 genomes]
rs72825116	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755499	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8066698	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8069438	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076041	0.85[EUR][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
rs12951142	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:108 , 50 per page) page: 1 2 3

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	chr17:37415000-37443600	Weak transcription	Psoas Muscle	Psoas
4	chr17:37417400-37458600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr17:37417600-37460800	Weak transcription	Fetal Brain Male	brain
6	chr17:37425000-37473000	Weak transcription	Pancreas	Pancrea
7	chr17:37426200-37453800	Weak transcription	Aorta	Aorta
8	chr17:37426600-37460800	Weak transcription	Colonic Mucosa	Colon
9	chr17:37426800-37468600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:37430800-37462600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:37431000-37443600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:37431200-37450800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr17:37431200-37453200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr17:37431200-37453200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr17:37431200-37453200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr17:37431200-37462600	Weak transcription	Colon Smooth Muscle	Colon
17	chr17:37431400-37443600	Weak transcription	Left Ventricle	heart
18	chr17:37431400-37452800	Weak transcription	Dnd41	blood
19	chr17:37431400-37453000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr17:37431400-37453200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr17:37431400-37453200	Weak transcription	Brain Substantia Nigra	brain
22	chr17:37431400-37453600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr17:37431400-37453600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:37431400-37473400	Weak transcription	Esophagus	oesophagus
25	chr17:37431600-37453000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:37431600-37453800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:37431600-37453800	Weak transcription	Right Ventricle	heart
28	chr17:37433400-37444400	Strong transcription	Fetal Thymus	thymus
29	chr17:37433800-37457000	Weak transcription	GM12878-XiMat	blood
30	chr17:37434000-37452400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr17:37434200-37453200	Weak transcription	Primary B cells from cord blood	blood
32	chr17:37434800-37450200	Weak transcription	Lung	lung
33	chr17:37435200-37453400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr17:37435600-37469400	Weak transcription	Gastric	stomach
35	chr17:37435800-37453800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:37435800-37455600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr17:37436000-37446400	Weak transcription	Fetal Brain Female	brain
38	chr17:37436000-37448400	Weak transcription	Brain Hippocampus Middle	brain
39	chr17:37436000-37455200	Weak transcription	Fetal Kidney	kidney
40	chr17:37436000-37496200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr17:37436200-37448800	Weak transcription	Fetal Muscle Leg	muscle
42	chr17:37436200-37451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:37436200-37453600	Weak transcription	Spleen	Spleen
44	chr17:37436800-37443600	Weak transcription	Fetal Lung	lung
45	chr17:37436800-37446400	Weak transcription	Stomach Smooth Muscle	stomach
46	chr17:37436800-37453800	Weak transcription	Ovary	ovary
47	chr17:37436800-37497800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:37437000-37446600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:37437200-37453000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr17:37437400-37451200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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