Variant report

Variant	rs11812740
Chromosome Location	chr10:27532986-27532987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr10:27528804-27533681	SK-N-SH	brain:	n/a	n/a
2	ESR1	chr10:27532623-27533061	T-47D	breast:	n/a	n/a
3	POLR2A	chr10:27529181-27532999	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:27529100-27533158	GM12891	blood:	n/a	n/a
5	RELA	chr10:27531702-27533024	GM15510	blood:	n/a	n/a
6	ESR1	chr10:27532727-27533004	T-47D	breast:	n/a	n/a
7	ESR1	chr10:27532637-27533066	T-47D	breast:	n/a	n/a
8	ESR1	chr10:27532620-27533028	T-47D	breast:	n/a	n/a
9	POLR2A	chr10:27532717-27533080	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr10:27529128-27533001	GM12892	blood:	n/a	n/a
11	POLR2A	chr10:27529120-27533024	GM12892	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:27529521..27534854-chr10:27538591..27544292,11	K562	blood:
2	chr10:27442535..27445982-chr10:27528407..27534290,13	K562	blood:
3	chr10:27422273..27425391-chr10:27529619..27533685,5	MCF-7	breast:
4	chr10:27442176..27446829-chr10:27524472..27534671,19	K562	blood:

No data

Variant related genes	Relation type
ACBD5	TF binding region
ENSG00000120539	Chromatin interaction
ENSG00000136758	Chromatin interaction
ENSG00000230445	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10829217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11015619	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11015620	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11015624	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11015628	0.94[ASN][1000 genomes]
rs11812283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11818418	0.88[ASN][1000 genomes]
rs12260818	0.88[ASN][1000 genomes]
rs12262209	0.88[ASN][1000 genomes]
rs12264871	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12411672	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12415447	0.93[ASN][1000 genomes]
rs12774718	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12775195	0.83[ASN][1000 genomes]
rs12775838	0.88[ASN][1000 genomes]
rs16916444	0.93[ASN][1000 genomes]
rs17748862	0.88[ASN][1000 genomes]
rs1930960	0.88[ASN][1000 genomes]
rs2027538	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368220	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34983424	0.88[ASN][1000 genomes]
rs35053986	0.83[ASN][1000 genomes]
rs35931272	0.88[ASN][1000 genomes]
rs3818969	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4747592	1.00[ASN][1000 genomes]
rs4747594	1.00[ASN][1000 genomes]
rs55770293	0.88[ASN][1000 genomes]
rs56207199	0.88[ASN][1000 genomes]
rs56313380	0.88[ASN][1000 genomes]
rs56406502	0.88[ASN][1000 genomes]
rs61149145	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67395401	0.88[ASN][1000 genomes]
rs73598052	0.94[ASN][1000 genomes]
rs7918793	1.00[ASN][1000 genomes]
rs7919198	1.00[ASN][1000 genomes]
rs7919807	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7920681	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422253	chr10:27431366-27575370	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3337781	chr10:27472216-27666703	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv8614	chr10:27504487-27828406	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27528400-27533000	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr10:27528400-27533000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:27531800-27533000	Flanking Active TSS	HMEC	breast
4	chr10:27532000-27533000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:27532000-27533000	Flanking Active TSS	NH-A	brain
6	chr10:27532000-27533200	Flanking Active TSS	Dnd41	blood
7	chr10:27532200-27533000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr10:27532200-27533000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr10:27532200-27533000	Flanking Active TSS	A549	lung
10	chr10:27532200-27533000	Flanking Active TSS	HepG2	liver
11	chr10:27532200-27533000	Flanking Active TSS	NHDF-Ad	bronchial
12	chr10:27532200-27533200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:27532400-27533000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr10:27532400-27533000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:27532400-27533000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:27532400-27533000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:27532400-27533000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr10:27532400-27533000	Enhancers	Small Intestine	intestine
19	chr10:27532400-27533200	Enhancers	Fetal Heart	heart
20	chr10:27532600-27533000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr10:27532600-27533000	Enhancers	Primary B cells from cord blood	blood
22	chr10:27532600-27533000	Enhancers	Primary T cells from cord blood	blood
23	chr10:27532600-27533000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr10:27532600-27533000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:27532600-27533000	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr10:27532600-27533000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:27532600-27533000	Enhancers	Fetal Intestine Large	intestine
28	chr10:27532600-27533000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr10:27532600-27533000	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr10:27532600-27533200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr10:27532600-27533200	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr10:27532600-27533200	Enhancers	K562	blood
33	chr10:27532600-27534800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr10:27532600-27535400	Weak transcription	Left Ventricle	heart
35	chr10:27532600-27536400	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:27532600-27536400	Weak transcription	Right Atrium	heart
37	chr10:27532600-27540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:27532600-27541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:27532600-27541200	Weak transcription	Esophagus	oesophagus
40	chr10:27532600-27541200	Weak transcription	Pancreas	Pancrea
41	chr10:27532600-27541200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr10:27532800-27533000	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr10:27532800-27533000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr10:27532800-27533000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr10:27532800-27533000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr10:27532800-27533000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr10:27532800-27533000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:27532800-27533000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr10:27532800-27533000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr10:27532800-27533000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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