Variant report

Variant	rs60403655
Chromosome Location	chr17:37628990-37628991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37617961..37620652-chr17:37628942..37630893,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12951142	0.80[EUR][1000 genomes]
rs16965115	0.88[EUR][1000 genomes]
rs34458385	0.87[ASN][1000 genomes]
rs35270682	0.87[ASN][1000 genomes]
rs35442489	0.87[ASN][1000 genomes]
rs36172452	0.87[ASN][1000 genomes]
rs4404103	0.87[ASN][1000 genomes]
rs4541107	0.87[ASN][1000 genomes]
rs4611492	0.81[AMR][1000 genomes]
rs55927957	0.88[EUR][1000 genomes]
rs55938401	0.85[EUR][1000 genomes]
rs55976670	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56161258	0.88[EUR][1000 genomes]
rs56236848	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56257093	0.88[EUR][1000 genomes]
rs57009492	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58195267	0.83[EUR][1000 genomes]
rs59085142	0.88[EUR][1000 genomes]
rs59110119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59636115	0.87[ASN][1000 genomes]
rs59837361	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59869016	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs59925505	0.85[EUR][1000 genomes]
rs60407362	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs67274822	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs67466585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67819651	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67966109	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7219814	0.85[EUR][1000 genomes]
rs72825116	0.85[EUR][1000 genomes]
rs72825188	0.81[AMR][1000 genomes]
rs72825189	0.81[AMR][1000 genomes]
rs72825194	0.81[AMR][1000 genomes]
rs72827114	0.87[ASN][1000 genomes]
rs72827138	0.87[ASN][1000 genomes]
rs72827139	0.87[ASN][1000 genomes]
rs72827140	0.87[ASN][1000 genomes]
rs8066698	0.82[EUR][1000 genomes]
rs8068497	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs8069438	0.86[EUR][1000 genomes]
rs8076041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8081144	0.87[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60403655	CRKRS	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 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	chr17:37621400-37630400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:37622200-37633400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr17:37622200-37647000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:37623000-37632800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr17:37623000-37641000	Strong transcription	Fetal Thymus	thymus
8	chr17:37623400-37632800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr17:37623600-37642000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:37623800-37631600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr17:37623800-37632400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr17:37624000-37641600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:37624000-37680400	Weak transcription	Fetal Brain Male	brain
14	chr17:37624000-37690600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr17:37624200-37639800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr17:37624800-37643000	Strong transcription	Fetal Stomach	stomach
17	chr17:37625200-37629200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr17:37625200-37632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:37625200-37632400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:37625200-37632600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr17:37625200-37633000	Strong transcription	A549	lung
22	chr17:37625200-37633400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr17:37625200-37634200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:37625200-37635600	Strong transcription	Dnd41	blood
25	chr17:37625200-37641000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr17:37625200-37641800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr17:37625400-37636000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr17:37625400-37639800	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr17:37625400-37639800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr17:37625400-37641000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr17:37625400-37641400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:37625600-37629400	Strong transcription	HepG2	liver
33	chr17:37625600-37632400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr17:37626000-37629600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr17:37626400-37629800	Strong transcription	Hela-S3	cervix
36	chr17:37626400-37631000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr17:37626400-37635400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:37626600-37631000	Strong transcription	K562	blood
39	chr17:37626600-37632400	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr17:37626600-37632600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:37626600-37632800	Strong transcription	Osteobl	bone
42	chr17:37626600-37637400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr17:37626600-37641000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr17:37626600-37690600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:37626800-37629200	Strong transcription	Primary B cells from cord blood	blood
46	chr17:37626800-37629400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:37626800-37629600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
48	chr17:37626800-37629600	Strong transcription	HSMM	muscle
49	chr17:37626800-37631000	Strong transcription	Primary hematopoietic stem cells	blood
50	chr17:37626800-37631000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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