Variant report

Variant	rs9357944
Chromosome Location	chr6:57199023-57199024
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	chr6:57197771..57200072-chr6:57204216..57205882,2	K562	blood:
2	chr6:57198328..57200503-chr6:57228180..57229836,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1013893	1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[ASN][1000 genomes]
rs1013894	0.84[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs1019210	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs1029872	0.82[CHB][hapmap]
rs10733187	0.87[CHB][hapmap]
rs1119375	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];0.87[LWK][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs12664535	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1618210	0.91[CHB][hapmap];0.91[CHD][hapmap];0.88[ASN][1000 genomes]
rs1741916	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs1755833	0.95[CHB][hapmap];0.91[CHD][hapmap];0.88[ASN][1000 genomes]
rs2013464	0.86[CHB][hapmap]
rs2013480	0.83[CHB][hapmap]
rs2098172	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2191651	0.95[CHB][hapmap];0.91[CHD][hapmap];0.80[LWK][hapmap];0.86[MEX][hapmap]
rs2215511	0.82[CHB][hapmap]
rs3800015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap]
rs4288209	0.82[CHB][hapmap]
rs4712144	0.87[CHB][hapmap]
rs4712154	0.85[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[LWK][hapmap];0.87[MEX][hapmap];0.85[YRI][hapmap]
rs4715653	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715654	0.87[CHB][hapmap]
rs4715655	0.95[CHB][hapmap];0.91[CHD][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs4715656	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715657	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[MEX][hapmap];0.88[ASN][1000 genomes]
rs4715668	0.86[CEU][hapmap]
rs6459193	0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[MEX][hapmap]
rs7738530	0.82[CHB][hapmap]
rs7754116	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7756422	0.91[CHB][hapmap]
rs7771738	0.85[CHB][hapmap]
rs9357943	0.91[CHB][hapmap];0.88[ASN][1000 genomes]
rs9357946	1.00[YRI][hapmap]
rs9382701	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382736	0.95[CHB][hapmap]
rs9396278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs980327	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9357944	GUSBL2	cis	parietal	SCAN

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
2	chr6:57183200-57199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:57184600-57199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:57184800-57199600	Strong transcription	HSMM	muscle
6	chr6:57190000-57199800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:57190000-57200000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:57191800-57199800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:57192000-57199600	ZNF genes & repeats	GM12878-XiMat	blood
10	chr6:57192000-57200000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:57192200-57199800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr6:57192200-57199800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr6:57192200-57199800	ZNF genes & repeats	Dnd41	blood
14	chr6:57192600-57199800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:57192600-57200000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:57193000-57199200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:57193000-57199400	Weak transcription	Placenta	Placenta
18	chr6:57193000-57201000	Weak transcription	Gastric	stomach
19	chr6:57193000-57203000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr6:57193600-57199400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr6:57193600-57207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:57194200-57199800	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr6:57194600-57199200	Weak transcription	Thymus	Thymus
24	chr6:57194600-57201200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:57194600-57202000	Weak transcription	Fetal Stomach	stomach
26	chr6:57194600-57214800	Weak transcription	Small Intestine	intestine
27	chr6:57194600-57215200	Weak transcription	Ovary	ovary
28	chr6:57194600-57226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
30	chr6:57194800-57199400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr6:57194800-57202000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr6:57194800-57202200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr6:57194800-57206000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:57194800-57211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:57195000-57199400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:57195000-57201400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:57195600-57199600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr6:57195600-57201400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:57195600-57202400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:57195600-57204600	Weak transcription	Colon Smooth Muscle	Colon
41	chr6:57195600-57212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:57195800-57199400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:57195800-57199400	Weak transcription	Psoas Muscle	Psoas
45	chr6:57195800-57199400	Weak transcription	HMEC	breast
46	chr6:57195800-57199600	Strong transcription	Fetal Thymus	thymus
47	chr6:57196000-57199200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:57196000-57199200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr6:57196000-57199800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
50	chr6:57196200-57199800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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