Variant report

Variant	rs11042497
Chromosome Location	chr11:9815208-9815209
allele	C/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	POLR2A	chr11:9815127-9815255	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:9813400..9815495-chr11:9817241..9820398,3	K562	blood:
2	chr11:9814289..9816378-chr11:9820915..9822756,2	K562	blood:
3	chr11:9813836..9815501-chr11:9816668..9819213,3	K562	blood:

Variant related genes	Relation type
SBF2	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045634	0.81[EUR][1000 genomes]
rs10770061	0.80[EUR][1000 genomes]
rs10840302	0.80[EUR][1000 genomes]
rs10840304	0.87[EUR][1000 genomes]
rs10840307	0.90[EUR][1000 genomes]
rs11042494	0.80[EUR][1000 genomes]
rs11042495	0.80[EUR][1000 genomes]
rs11042496	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12786198	0.81[EUR][1000 genomes]
rs3829252	0.81[EUR][1000 genomes]
rs4910500	0.80[EUR][1000 genomes]
rs4910501	0.80[EUR][1000 genomes]
rs4910502	0.80[EUR][1000 genomes]
rs4910503	0.80[EUR][1000 genomes]
rs4910505	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7102804	0.81[EUR][1000 genomes]
rs7120754	0.80[EUR][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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9797400-9821800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr11:9799600-9823400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:9800200-9823800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:9801600-9823800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:9803000-9823400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:9803000-9823400	Weak transcription	Psoas Muscle	Psoas
7	chr11:9803200-9828600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:9803200-9828600	Weak transcription	Gastric	stomach
9	chr11:9803200-9828800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:9805000-9815600	Strong transcription	Fetal Intestine Large	intestine
11	chr11:9805200-9815600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:9806800-9821400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:9806800-9828600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:9807200-9823200	Weak transcription	Fetal Heart	heart
15	chr11:9808400-9828800	Weak transcription	Fetal Kidney	kidney
16	chr11:9809600-9823000	Weak transcription	HMEC	breast
17	chr11:9809600-9828600	Weak transcription	Esophagus	oesophagus
18	chr11:9809600-9832600	Weak transcription	Colonic Mucosa	Colon
19	chr11:9809800-9819800	Weak transcription	Pancreas	Pancrea
20	chr11:9809800-9823200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:9809800-9828000	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:9809800-9828600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:9810000-9818400	Weak transcription	Aorta	Aorta
24	chr11:9810000-9822400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:9810000-9823200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:9810000-9823200	Weak transcription	NH-A	brain
27	chr11:9810000-9829200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr11:9810200-9819800	Weak transcription	Hela-S3	cervix
29	chr11:9810200-9821000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:9810200-9822600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:9810200-9828400	Weak transcription	Primary T cells from cord blood	blood
32	chr11:9810200-9829200	Weak transcription	Fetal Brain Male	brain
33	chr11:9810600-9816000	Strong transcription	HSMMtube	muscle
34	chr11:9810800-9818200	Weak transcription	Spleen	Spleen
35	chr11:9810800-9820800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr11:9810800-9823200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr11:9810800-9828600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr11:9810800-9829000	Weak transcription	Right Ventricle	heart
39	chr11:9811000-9828600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr11:9811200-9824000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:9811600-9816800	Weak transcription	Fetal Brain Female	brain
42	chr11:9811600-9822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:9811600-9823000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:9811600-9823400	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:9811600-9824000	Weak transcription	Brain Substantia Nigra	brain
46	chr11:9811600-9828000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:9811600-9828600	Weak transcription	Dnd41	blood
48	chr11:9811600-9828600	Weak transcription	HUVEC	blood vessel
49	chr11:9811600-9828800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:9811600-9828800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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