Variant report

Variant	rs10792101
Chromosome Location	chr11:57296659-57296660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57296541..57298189-chr11:57320767..57323633,2	K562	blood:
2	chr11:57294684..57296803-chr11:57368353..57370314,2	K562	blood:
3	chr11:57082825..57084947-chr11:57296049..57298062,2	K562	blood:
4	chr11:57279697..57283964-chr11:57296063..57300992,5	K562	blood:
5	chr11:57279377..57284601-chr11:57296598..57300992,7	K562	blood:
6	chr11:57190585..57193869-chr11:57296385..57298665,4	K562	blood:
7	chr11:57280118..57282048-chr11:57295886..57298266,2	MCF-7	breast:
8	chr11:57294877..57297638-chr11:57477867..57480575,2	K562	blood:
9	chr11:57190585..57194081-chr11:57295965..57298665,6	K562	blood:
10	chr11:57296138..57298827-chr11:57479075..57481840,2	K562	blood:
11	chr11:57225517..57229165-chr11:57295790..57298188,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000186907	Chromatin interaction
ENSG00000156603	Chromatin interaction
ENSG00000254462	Chromatin interaction
ENSG00000254979	Chromatin interaction
ENSG00000213593	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000149131	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160419	0.88[JPT][hapmap]
rs10792104	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10792106	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10792107	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10896623	0.83[ASW][hapmap]
rs1115172	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap]
rs11229057	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12275916	0.88[JPT][hapmap]
rs2508443	0.82[CHB][hapmap]
rs35253626	0.82[ASN][1000 genomes]
rs3891975	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4938869	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938871	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4938873	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4939146	0.88[JPT][hapmap]
rs4939148	0.83[ASW][hapmap]
rs4939149	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939151	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4939152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4939153	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61886997	0.91[ASN][1000 genomes]
rs6591429	0.88[JPT][hapmap]
rs7101425	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7112126	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7123582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7124330	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7128015	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7131076	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7933797	0.88[JPT][hapmap]
rs7934626	0.88[JPT][hapmap]
rs7940223	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7950126	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10792101	OR5M10	cis	cerebellum	SCAN
rs10792101	SMTNL1	cis	lymphoblastoid	seeQTL
rs10792101	CLP1	cis	cerebellum	SCAN
rs10792101	TIMM10	cis	lung	GTEx
rs10792101	MS4A13	cis	cerebellum	SCAN
rs10792101	SMTNL1	cis	Adipose Subcutaneous	GTEx
rs10792101	TIMM10	cis	parietal	SCAN
rs10792101	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs10792101	LPXN	cis	parietal	SCAN
rs10792101	OR5J2	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57283400-57297400	Weak transcription	Gastric	stomach
2	chr11:57283800-57297000	Weak transcription	Brain Angular Gyrus	brain
3	chr11:57283800-57297200	Weak transcription	Fetal Lung	lung
4	chr11:57283800-57297200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:57283800-57297200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:57283800-57297200	Weak transcription	Right Atrium	heart
7	chr11:57283800-57297200	Weak transcription	NH-A	brain
8	chr11:57283800-57297400	Weak transcription	Colonic Mucosa	Colon
9	chr11:57283800-57297400	Weak transcription	HSMMtube	muscle
10	chr11:57284000-57297000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr11:57284000-57297000	Weak transcription	NHDF-Ad	bronchial
12	chr11:57284800-57297000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:57286600-57297200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:57287600-57297200	Weak transcription	Fetal Brain Male	brain
15	chr11:57290200-57297400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:57292600-57297400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:57292600-57297600	Weak transcription	Aorta	Aorta
18	chr11:57292800-57297000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:57292800-57297000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:57292800-57297200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:57293000-57297000	Weak transcription	Small Intestine	intestine
22	chr11:57293000-57297200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:57293000-57297200	Weak transcription	Brain Substantia Nigra	brain
24	chr11:57293200-57297200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr11:57293600-57297400	Weak transcription	Ovary	ovary
26	chr11:57294200-57297400	Weak transcription	Psoas Muscle	Psoas
27	chr11:57294800-57297000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:57294800-57297000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr11:57294800-57297200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:57294800-57297400	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:57295000-57296800	Strong transcription	Osteobl	bone
32	chr11:57295000-57297000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:57295000-57297000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:57295000-57297000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:57295000-57297000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr11:57295000-57297000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr11:57295000-57297000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr11:57295000-57297000	Weak transcription	Fetal Kidney	kidney
39	chr11:57295000-57297000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:57295000-57297200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:57295200-57296800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:57295200-57296800	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:57295200-57297000	Strong transcription	Placenta	Placenta
44	chr11:57295200-57297200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr11:57295400-57296800	Strong transcription	Fetal Thymus	thymus
46	chr11:57295600-57297200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:57295800-57296800	Strong transcription	Adipose Nuclei	Adipose
48	chr11:57295800-57296800	Strong transcription	Fetal Intestine Large	intestine
49	chr11:57295800-57297000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:57295800-57297000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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