Variant report

Variant	rs8076041
Chromosome Location	chr17:37604354-37604355
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	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
2	chr17:37604291..37611614-chr17:37614953..37621274,26	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1046632	0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs12951142	0.85[EUR][1000 genomes]
rs16965088	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16965115	0.84[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16968705	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs16968720	1.00[JPT][hapmap];0.82[MEX][hapmap]
rs16968748	0.84[ASW][hapmap];0.84[YRI][hapmap]
rs1877032	0.84[CEU][hapmap]
rs34249490	0.87[ASN][1000 genomes]
rs4404103	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs4412996	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4611492	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55927957	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs55938401	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55976670	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56058902	0.84[EUR][1000 genomes]
rs56102014	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56143149	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56161258	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56236848	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56257093	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56315211	0.89[EUR][1000 genomes]
rs56387221	0.86[EUR][1000 genomes]
rs57009492	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58195267	0.94[EUR][1000 genomes]
rs59085142	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59110119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59585619	0.86[EUR][1000 genomes]
rs59837361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59869016	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59925505	0.95[EUR][1000 genomes]
rs60171801	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60403655	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60407362	0.85[AFR][1000 genomes]
rs67274822	0.85[AFR][1000 genomes]
rs67466585	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67819651	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67966109	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67971355	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68055032	0.89[EUR][1000 genomes]
rs7219814	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.84[YRI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7226073	1.00[ASW][hapmap];0.94[LWK][hapmap];0.95[YRI][hapmap]
rs72825103	0.89[EUR][1000 genomes]
rs72825116	0.95[EUR][1000 genomes]
rs72825148	0.87[ASN][1000 genomes]
rs72825164	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72825178	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72825188	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825189	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72825194	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755499	0.83[EUR][1000 genomes]
rs8066698	0.92[EUR][1000 genomes]
rs8068497	0.85[AFR][1000 genomes]
rs8069438	0.91[EUR][1000 genomes]
rs8081144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs9889354	0.84[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs9907501	0.84[CEU][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8076041	CRKRS	Cis_1M	lymphoblastoid	RTeQTL
rs8076041	STAC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr17:37560800-37605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:37560800-37605400	Strong transcription	Fetal Thymus	thymus
4	chr17:37560800-37605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr17:37561000-37604800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr17:37561000-37604800	Strong transcription	Placenta	Placenta
7	chr17:37561000-37605200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr17:37561000-37605400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:37561200-37604400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:37561200-37604600	Strong transcription	Liver	Liver
11	chr17:37561200-37605000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:37561200-37605200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:37561400-37604800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr17:37561400-37604800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr17:37561400-37605000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:37561600-37604600	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr17:37561600-37605600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:37561800-37604400	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr17:37562000-37604400	Strong transcription	Adipose Nuclei	Adipose
20	chr17:37562000-37604600	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr17:37562000-37604600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr17:37562200-37604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:37562200-37604600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr17:37562400-37604600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr17:37562400-37604600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:37563000-37604600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
27	chr17:37563000-37604800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr17:37563800-37605600	Strong transcription	Fetal Stomach	stomach
29	chr17:37563800-37606000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:37564000-37604400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr17:37564000-37605200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr17:37564000-37605400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:37566800-37606400	Weak transcription	Stomach Mucosa	stomach
34	chr17:37569000-37605200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr17:37571600-37606600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr17:37577800-37604800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr17:37578600-37604600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:37579200-37604600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr17:37579200-37605000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:37579400-37605600	Strong transcription	Fetal Intestine Large	intestine
41	chr17:37584200-37606600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr17:37588200-37606400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:37589800-37604800	Strong transcription	Osteobl	bone
44	chr17:37589800-37605400	Strong transcription	Fetal Brain Female	brain
45	chr17:37590800-37606600	Weak transcription	Fetal Heart	heart
46	chr17:37591200-37605000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:37593800-37606600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr17:37594800-37604400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:37594800-37604600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr17:37594800-37606200	Weak transcription	Small Intestine	intestine

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