Variant report

Variant	rs290198
Chromosome Location	chr11:85419667-85419668
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	POLR2A	chr11:85418921-85420518	K562	blood:	n/a	n/a

Variant related genes	Relation type
SYTL2	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1893163	0.87[MEX][hapmap]
rs290173	0.88[CHD][hapmap];0.81[ASN][1000 genomes]
rs290174	0.82[ASN][1000 genomes]
rs290179	0.87[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[YRI][hapmap];0.87[ASN][1000 genomes]
rs290180	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs290190	0.80[ASN][1000 genomes]
rs290191	0.80[ASN][1000 genomes]
rs290193	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs290195	0.82[ASN][1000 genomes]
rs290200	0.83[CHB][hapmap];0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs290201	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs290202	0.80[CHD][hapmap];0.80[ASN][1000 genomes]
rs431606	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs491867	0.80[CHD][hapmap]
rs496187	0.85[CHD][hapmap]
rs540063	0.83[CHD][hapmap]
rs570394	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs575013	0.92[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.96[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs575050	0.87[CHB][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs623120	0.82[EUR][1000 genomes]
rs647912	0.85[CHD][hapmap]
rs680498	0.85[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv468768	chr11:85395180-85436352	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv555632	chr11:85395180-85436352	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85394000-85427400	Weak transcription	Small Intestine	intestine
2	chr11:85396800-85429800	Weak transcription	Stomach Mucosa	stomach
3	chr11:85397000-85425400	Weak transcription	Lung	lung
4	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
5	chr11:85397600-85422000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:85397600-85428400	Weak transcription	Brain Angular Gyrus	brain
7	chr11:85397800-85421600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:85397800-85430000	Weak transcription	Ovary	ovary
9	chr11:85398000-85427600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:85406200-85429800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:85408600-85426600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:85409000-85421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:85409000-85425200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:85409400-85427200	Weak transcription	Fetal Lung	lung
15	chr11:85410600-85424400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:85411800-85424800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr11:85412000-85436800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:85412600-85427000	Weak transcription	Fetal Intestine Small	intestine
20	chr11:85413600-85427200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:85413600-85429600	Weak transcription	Fetal Stomach	stomach
22	chr11:85413800-85430000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:85417200-85421200	Weak transcription	A549	lung
24	chr11:85417600-85425200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:85417600-85427200	Weak transcription	NH-A	brain
26	chr11:85417600-85428600	Weak transcription	Osteobl	bone
27	chr11:85417600-85453000	Weak transcription	Gastric	stomach
28	chr11:85417800-85423400	Strong transcription	HSMMtube	muscle
29	chr11:85417800-85423800	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:85417800-85424000	Weak transcription	NHLF	lung
31	chr11:85417800-85424200	Weak transcription	Fetal Muscle Trunk	muscle
32	chr11:85417800-85424200	Strong transcription	HSMM	muscle
33	chr11:85418400-85436400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:85418600-85421200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:85418600-85424200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:85418600-85425800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:85418600-85427000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:85418800-85424000	Weak transcription	Primary T cells from cord blood	blood
39	chr11:85418800-85424200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:85418800-85424200	Weak transcription	NHDF-Ad	bronchial
41	chr11:85419200-85422200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:85419200-85423800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:85419600-85420600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:85419600-85421200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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