Variant report

Variant	rs10743091
Chromosome Location	chr11:8833359-8833360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr11:8833292-8833373	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:8833117-8833520	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:8830703..8833043-chr11:8833134..8835525,2	MCF-7	breast:
2	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
3	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166441	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10840135	0.82[EUR][1000 genomes]
rs10840137	0.84[EUR][1000 genomes]
rs11042097	0.92[EUR][1000 genomes]
rs11042098	0.92[EUR][1000 genomes]
rs11042104	0.84[EUR][1000 genomes]
rs12798322	0.86[EUR][1000 genomes]
rs1368017	0.86[EUR][1000 genomes]
rs16906256	0.84[EUR][1000 genomes]
rs2292049	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2568025	0.92[ASN][1000 genomes]
rs59025804	0.86[EUR][1000 genomes]
rs61876202	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127479	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10743091	TMEM9B-AS1	cis	lung	GTEx
rs10743091	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs10743091	TMEM9B	Cis_1M	lymphoblastoid	RTeQTL
rs10743091	TMEM9B-AS1	cis	Muscle Skeletal	GTEx

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8832200-8835000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:8832400-8834600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:8832400-8835000	Weak transcription	HUVEC	blood vessel
4	chr11:8832400-8836800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:8832600-8833600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:8832600-8833800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:8832600-8834200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:8832600-8834600	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr11:8832600-8835000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:8832600-8835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:8832600-8840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:8832800-8833400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:8832800-8834400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:8832800-8835000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr11:8832800-8835400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:8832800-8837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:8833000-8833400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr11:8833000-8833400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:8833000-8833400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:8833000-8833400	Enhancers	Brain Angular Gyrus	brain
21	chr11:8833000-8833400	Genic enhancers	Fetal Stomach	stomach
22	chr11:8833000-8833600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr11:8833000-8833800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:8833000-8834200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:8833000-8834200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:8833000-8834400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:8833000-8834800	Enhancers	Adipose Nuclei	Adipose
28	chr11:8833000-8834800	Enhancers	Hela-S3	cervix
29	chr11:8833000-8835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:8833000-8835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:8833000-8835000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:8833000-8835400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:8833000-8835400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:8833000-8835400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:8833000-8835400	Weak transcription	Left Ventricle	heart
36	chr11:8833000-8835400	Weak transcription	Psoas Muscle	Psoas
37	chr11:8833000-8835400	Weak transcription	Right Atrium	heart
38	chr11:8833000-8835400	Weak transcription	Right Ventricle	heart
39	chr11:8833000-8835400	Weak transcription	Small Intestine	intestine
40	chr11:8833000-8835400	Weak transcription	Spleen	Spleen
41	chr11:8833000-8836200	Enhancers	Stomach Mucosa	stomach
42	chr11:8833000-8836400	Enhancers	Colon Smooth Muscle	Colon
43	chr11:8833000-8837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:8833000-8837200	Enhancers	NHDF-Ad	bronchial
45	chr11:8833000-8837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:8833000-8837600	Enhancers	NHLF	lung
47	chr11:8833000-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:8833200-8833400	Enhancers	Brain Hippocampus Middle	brain
49	chr11:8833200-8833600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:8833200-8833600	Weak transcription	Liver	Liver

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