Variant report

Variant	rs2276136
Chromosome Location	chr11:66456055-66456056
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	chr11:66455894-66456088	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:66455617-66456296	K562	blood:	n/a	n/a
3	POLR2A	chr11:66456024-66456228	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr11:66455913-66456108	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66247121..66250078-chr11:66454971..66457807,2	MCF-7	breast:
2	chr11:66444530..66447369-chr11:66455344..66460090,5	K562	blood:

Variant related genes	Relation type
SPTBN2	TF binding region
ENSG00000173914	Chromatin interaction
ENSG00000254986	Chromatin interaction
ENSG00000255517	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11227532	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11227539	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11227554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11227560	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11227562	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs11227570	0.99[ASN][1000 genomes]
rs11227574	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11227587	0.81[ASN][1000 genomes]
rs11227591	0.81[ASN][1000 genomes]
rs12049897	1.00[ASN][1000 genomes]
rs12223171	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12225302	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2229456	1.00[JPT][hapmap]
rs2275998	1.00[JPT][hapmap]

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	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv518919	chr11:66409409-66468469	Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS 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
4	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv897791	chr11:66442855-66533469	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66446000-66457400	Weak transcription	Gastric	stomach
2	chr11:66446200-66456800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:66446200-66457200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr11:66446200-66457800	Weak transcription	Brain Angular Gyrus	brain
5	chr11:66446200-66458800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:66446200-66461400	Weak transcription	K562	blood
7	chr11:66446200-66461800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:66446200-66465800	Weak transcription	A549	lung
9	chr11:66446200-66468000	Weak transcription	Lung	lung
10	chr11:66446200-66468600	Weak transcription	Right Ventricle	heart
11	chr11:66446200-66480200	Weak transcription	Fetal Kidney	kidney
12	chr11:66446200-66485800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:66446400-66457400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:66446400-66462400	Weak transcription	Fetal Intestine Large	intestine
15	chr11:66446600-66461800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:66446800-66462200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:66450800-66467000	Strong transcription	Fetal Brain Female	brain
18	chr11:66451000-66456600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:66451000-66462200	Strong transcription	Liver	Liver
20	chr11:66451000-66467000	Strong transcription	Brain Germinal Matrix	brain
21	chr11:66451200-66461800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:66451200-66462200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:66451400-66462400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:66451600-66462000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr11:66451800-66462000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:66451800-66462000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:66452200-66461400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:66452200-66485600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:66452400-66461000	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr11:66452400-66461800	Strong transcription	Hela-S3	cervix
31	chr11:66452600-66456200	Genic enhancers	Esophagus	oesophagus
32	chr11:66452600-66461400	Strong transcription	Fetal Stomach	stomach
33	chr11:66452600-66461600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:66452600-66462000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:66452800-66461600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:66452800-66473800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr11:66453000-66483400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:66453400-66461800	Strong transcription	Pancreas	Pancrea
39	chr11:66453600-66457600	Strong transcription	Fetal Intestine Small	intestine
40	chr11:66454000-66461800	Weak transcription	Spleen	Spleen
41	chr11:66454000-66462000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:66454000-66462400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr11:66454400-66456200	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:66454600-66456200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:66454600-66457400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:66455000-66462400	Weak transcription	Thymus	Thymus
47	chr11:66455200-66461800	Weak transcription	NHEK	skin
48	chr11:66455200-66462000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:66455600-66460800	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr11:66455800-66456400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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