Variant report

Variant	rs490224
Chromosome Location	chr11:68232319-68232320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68212103..68215938-chr11:68228494..68232397,5	K562	blood:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1193701	1.00[AMR][1000 genomes]
rs584118	1.00[AMR][1000 genomes]
rs642476	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS 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	12 gene(s)	inside rSNPs	diseases
7	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1796394	chr11:68227792-68236389	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68229400-68233400	Enhancers	Spleen	Spleen
2	chr11:68229600-68232600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:68230400-68232600	Weak transcription	Stomach Mucosa	stomach
4	chr11:68230400-68234000	Enhancers	Liver	Liver
5	chr11:68230400-68235000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:68230400-68236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:68230400-68237600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:68230400-68238200	Enhancers	HepG2	liver
9	chr11:68230400-68238800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:68230600-68232600	Weak transcription	Aorta	Aorta
11	chr11:68230600-68233000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr11:68230600-68233000	Weak transcription	NHDF-Ad	bronchial
13	chr11:68230600-68233400	Active TSS	GM12878-XiMat	blood
14	chr11:68230600-68233400	Weak transcription	HSMM	muscle
15	chr11:68230600-68233800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:68230600-68234000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:68230600-68234000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:68230600-68234000	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:68230600-68234000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr11:68230600-68234600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:68230600-68234800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:68230600-68234800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:68230600-68235600	Weak transcription	HMEC	breast
24	chr11:68230600-68237400	Enhancers	Brain Hippocampus Middle	brain
25	chr11:68230600-68239000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:68230600-68239000	Enhancers	Adipose Nuclei	Adipose
27	chr11:68230600-68239000	Weak transcription	Fetal Kidney	kidney
28	chr11:68230600-68239200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr11:68230600-68241800	Enhancers	Psoas Muscle	Psoas
30	chr11:68230800-68232800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:68230800-68233000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:68230800-68233000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:68230800-68233000	Enhancers	Left Ventricle	heart
34	chr11:68230800-68233200	Enhancers	Rectal Smooth Muscle	rectum
35	chr11:68230800-68234000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:68230800-68234200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:68230800-68236800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr11:68230800-68237600	Weak transcription	Colonic Mucosa	Colon
39	chr11:68230800-68239000	Genic enhancers	Dnd41	blood
40	chr11:68230800-68239200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:68231000-68232800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:68231000-68235400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:68231000-68236000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr11:68231200-68232400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:68231200-68232800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr11:68231200-68232800	Weak transcription	Osteobl	bone
47	chr11:68231200-68233800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:68231200-68235400	Weak transcription	Small Intestine	intestine
49	chr11:68231200-68235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:68231200-68239000	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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