Variant report

Variant	rs750940
Chromosome Location	chr11:36448823-36448824
allele	A/G
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	MAFF	chr11:36448587-36448898	K562	blood:	n/a	chr11:36448747-36448765
2	MAFK	chr11:36448573-36448930	HepG2	liver:	n/a	n/a
3	MAFK	chr11:36448595-36448911	HepG2	liver:	n/a	n/a
4	MAFK	chr11:36448272-36448932	IMR90	lung:	n/a	n/a
5	MAFF	chr11:36448594-36448929	HepG2	liver:	n/a	chr11:36448747-36448765
6	MAFK	chr11:36448654-36448911	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000255060	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10768210	0.82[AMR][1000 genomes]
rs10836559	0.94[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10836560	0.86[YRI][hapmap]
rs10836561	0.80[CHB][hapmap];0.86[YRI][hapmap];0.81[AMR][1000 genomes]
rs11033617	0.86[YRI][hapmap]
rs12223629	0.83[YRI][hapmap]
rs1863397	0.80[CHB][hapmap];0.87[YRI][hapmap]
rs2422251	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs331446	0.93[CEU][hapmap];0.91[EUR][1000 genomes]
rs577054	0.82[YRI][hapmap]
rs744895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs744896	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs746762	0.93[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs754005	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945831	0.80[CHB][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs7951020	0.86[YRI][hapmap]
rs7952013	1.00[CEU][hapmap];0.94[CHB][hapmap];0.96[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
3	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36431200-36453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:36432000-36467800	Weak transcription	Esophagus	oesophagus
7	chr11:36432600-36452200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:36433400-36452600	Weak transcription	Left Ventricle	heart
9	chr11:36433800-36471400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:36435200-36453400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:36435200-36463200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:36438000-36450200	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:36440800-36452200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:36441000-36449400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:36442200-36451800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:36442600-36449400	Weak transcription	Right Atrium	heart
17	chr11:36442600-36451200	Weak transcription	NHEK	skin
18	chr11:36442600-36462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:36443000-36453200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:36443600-36449200	Weak transcription	HMEC	breast
21	chr11:36443600-36451400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:36443600-36451800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:36443600-36452600	Weak transcription	NHDF-Ad	bronchial
24	chr11:36443600-36453200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:36443800-36450200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr11:36443800-36457400	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:36444000-36471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:36444200-36471400	Weak transcription	Small Intestine	intestine
29	chr11:36444400-36453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:36445400-36449600	Enhancers	Fetal Muscle Leg	muscle
31	chr11:36445600-36452400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:36446200-36449400	Enhancers	Fetal Lung	lung
33	chr11:36446800-36449600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:36446800-36449800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:36447000-36449400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:36447000-36449400	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:36447000-36449600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr11:36447000-36449800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:36447000-36450400	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr11:36447200-36449600	Strong transcription	Colonic Mucosa	Colon
41	chr11:36447200-36450000	Enhancers	Brain Hippocampus Middle	brain
42	chr11:36447400-36449200	Enhancers	Placenta	Placenta
43	chr11:36447400-36449800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:36447600-36450400	Enhancers	Brain Substantia Nigra	brain
45	chr11:36447600-36451200	Weak transcription	Psoas Muscle	Psoas
46	chr11:36447600-36453000	Weak transcription	Hela-S3	cervix
47	chr11:36447600-36471000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr11:36447800-36449400	Enhancers	NHLF	lung
49	chr11:36447800-36451000	Strong transcription	Fetal Intestine Large	intestine
50	chr11:36447800-36451200	Weak transcription	HSMM	muscle

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