Variant report

Variant	rs10840205
Chromosome Location	chr11:9334322-9334323
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:9334291-9334565	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
2	chr11:9334169..9339249-chr11:9404487..9409469,24	K562	blood:
3	chr11:9333302..9335667-chr11:9353221..9354766,2	K562	blood:
4	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
5	chr11:9334187..9337944-chr11:9481178..9484496,6	K562	blood:
6	chr11:9333668..9337804-chr11:9478729..9484496,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	TF binding region
ENSG00000184014	Chromatin interaction
ENSG00000268403	Chromatin interaction
ENSG00000205339	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10743104	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10743105	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10770002	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770003	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770004	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10770006	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770008	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770009	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770010	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10770013	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770016	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10840196	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10840199	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840200	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10840204	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840207	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840208	0.86[ASN][1000 genomes]
rs11042252	0.83[ASN][1000 genomes]
rs11042256	0.86[ASN][1000 genomes]
rs11042262	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042264	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042265	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042266	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11042267	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042269	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042274	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042278	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11500788	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11602591	0.86[ASN][1000 genomes]
rs12796666	0.81[ASN][1000 genomes]
rs12801814	0.85[ASN][1000 genomes]
rs2133216	0.83[ASN][1000 genomes]
rs34446443	0.85[ASN][1000 genomes]
rs34716494	0.83[ASN][1000 genomes]
rs35381016	0.83[ASN][1000 genomes]
rs35686957	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4325312	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4343026	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4369406	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4447178	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4570580	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4601779	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4641476	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5014247	0.85[ASN][1000 genomes]
rs61875672	0.85[ASN][1000 genomes]
rs61875673	0.86[ASN][1000 genomes]
rs61877916	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7101432	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7121013	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123342	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71476818	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358313	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7358392	0.83[ASN][1000 genomes]
rs7952508	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv916534	chr11:9188436-9516241	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1053045	chr11:9208881-9363488	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv540947	chr11:9208881-9363488	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1055078	chr11:9252857-9538877	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
6	nsv515891	chr11:9275898-9334961	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv7669	chr11:9290376-9335028	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv508617	chr11:9314027-9408562	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
9	esv1810183	chr11:9323886-9334961	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv553464	chr11:9323886-9334961	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
2	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:9302800-9334600	Weak transcription	NH-A	brain
5	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
6	chr11:9312600-9334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:9317000-9334800	Weak transcription	Placenta	Placenta
8	chr11:9319800-9334800	Weak transcription	Fetal Intestine Large	intestine
9	chr11:9320600-9334600	Weak transcription	HSMMtube	muscle
10	chr11:9320600-9334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:9321200-9334800	Weak transcription	Fetal Muscle Leg	muscle
12	chr11:9321200-9335200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr11:9321400-9334600	Weak transcription	Osteobl	bone
14	chr11:9321400-9335000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:9321400-9335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:9321600-9334600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:9321600-9334800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:9321800-9334800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:9322000-9334600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:9323600-9334600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:9324400-9334600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:9328800-9334600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:9331600-9334400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:9331800-9334800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr11:9332400-9334800	Enhancers	Fetal Heart	heart
26	chr11:9332400-9335200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:9332600-9334400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:9332600-9334400	Enhancers	Primary T cells fromperipheralblood	blood
29	chr11:9332600-9334400	Enhancers	Thymus	Thymus
30	chr11:9332600-9334600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr11:9332600-9334600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr11:9332600-9334600	Enhancers	Liver	Liver
33	chr11:9332600-9334800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr11:9332600-9334800	Enhancers	Right Ventricle	heart
35	chr11:9332800-9334600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:9332800-9335000	Enhancers	Brain Angular Gyrus	brain
37	chr11:9332800-9336800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:9333000-9334600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:9333000-9334600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr11:9333000-9334600	Enhancers	Fetal Brain Male	brain
41	chr11:9333000-9334800	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr11:9333000-9335200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:9333000-9336800	Active TSS	Psoas Muscle	Psoas
44	chr11:9333200-9334400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:9333200-9334600	Weak transcription	Fetal Intestine Small	intestine
46	chr11:9333200-9334800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:9333200-9334800	Enhancers	Duodenum Mucosa	Duodenum
48	chr11:9333200-9335000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:9333400-9334600	Enhancers	Primary T cells from cord blood	blood
50	chr11:9333400-9334600	Active TSS	Muscle Satellite Cultured Cells	--

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