Variant report

Variant	rs2282647
Chromosome Location	chr11:121461593-121461594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121192033..121192612-chr11:121461567..121462290,2	MCF-7	breast:
2	chr11:120381894..120382837-chr11:121461399..121462390,3	K562	blood:

Variant related genes	Relation type
ENSG00000149403	Chromatin interaction
ENSG00000204306	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11218360	0.83[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11604897	0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12274536	0.89[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12274541	0.89[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12287339	0.83[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1620130	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17125473	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17125497	1.00[ASN][1000 genomes]
rs17125523	0.83[CHB][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3737529	0.89[CHB][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781831	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781834	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3781836	0.81[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3781837	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58698151	0.93[ASN][1000 genomes]
rs59260691	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7120354	0.93[ASN][1000 genomes]
rs73595281	0.91[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	nsv975233	chr11:121359656-121574786	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv527072	chr11:121448090-121486552	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34768	chr11:121452651-121534938	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121416600-121471800	Strong transcription	Primary T cells from cord blood	blood
2	chr11:121431000-121466400	Weak transcription	Ovary	ovary
3	chr11:121435200-121464800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:121440600-121485000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:121443400-121464600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:121443800-121461600	Weak transcription	Pancreas	Pancrea
7	chr11:121448800-121495600	Weak transcription	Stomach Mucosa	stomach
8	chr11:121449800-121465800	Weak transcription	Adipose Nuclei	Adipose
9	chr11:121450200-121461600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:121450200-121461800	Weak transcription	Fetal Brain Male	brain
11	chr11:121451000-121462600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:121451200-121461600	Weak transcription	Fetal Kidney	kidney
13	chr11:121451200-121464000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:121451200-121488200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:121451400-121469600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr11:121451400-121470000	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:121452000-121466400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:121453000-121470800	Strong transcription	HepG2	liver
19	chr11:121453200-121504200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:121453400-121462000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:121453400-121491200	Weak transcription	Small Intestine	intestine
22	chr11:121453400-121505400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:121453600-121462000	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:121453600-121469800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:121453800-121465800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:121454000-121503800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:121454400-121469600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:121454400-121504000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr11:121454800-121503600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:121455200-121461800	Strong transcription	Dnd41	blood
31	chr11:121455600-121503800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:121455800-121469800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:121456200-121461600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:121456400-121462200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr11:121456400-121465600	Strong transcription	NHEK	skin
36	chr11:121456600-121462000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:121456600-121464000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:121456600-121469600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:121456600-121471400	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:121456600-121501200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:121456800-121461600	Strong transcription	Fetal Brain Female	brain
42	chr11:121456800-121462400	Strong transcription	Spleen	Spleen
43	chr11:121456800-121462600	Genic enhancers	Brain Hippocampus Middle	brain
44	chr11:121456800-121464600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr11:121457200-121461600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:121457600-121462400	Strong transcription	Fetal Stomach	stomach
47	chr11:121458000-121462200	Genic enhancers	Fetal Thymus	thymus
48	chr11:121458000-121462600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:121458000-121495000	Weak transcription	Right Ventricle	heart
50	chr11:121458400-121462600	Genic enhancers	Brain Substantia Nigra	brain

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