Variant report

Variant	rs11557168
Chromosome Location	chr12:57628316-57628317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57520295..57521910-chr12:57627423..57630374,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12312567	1.00[MEX][hapmap]
rs34100010	1.00[MEX][hapmap]
rs35827450	1.00[MEX][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57624400-57630400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:57624800-57628400	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr12:57624800-57628400	Strong transcription	Primary T cells from cord blood	blood
4	chr12:57624800-57628600	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr12:57625000-57628400	Strong transcription	Fetal Lung	lung
6	chr12:57625000-57628800	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr12:57625000-57628800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57625000-57628800	Strong transcription	Stomach Smooth Muscle	stomach
9	chr12:57625000-57629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:57625200-57628400	Strong transcription	Placenta Amnion	Placenta Amnion
11	chr12:57625200-57628600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr12:57625200-57628600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:57625200-57628600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:57625200-57628600	Strong transcription	Colonic Mucosa	Colon
15	chr12:57625200-57628600	Strong transcription	Fetal Intestine Large	intestine
16	chr12:57625200-57628600	Strong transcription	Fetal Intestine Small	intestine
17	chr12:57625200-57628600	Strong transcription	Fetal Stomach	stomach
18	chr12:57625200-57628800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:57625200-57628800	Strong transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:57625200-57629000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:57625200-57629200	Weak transcription	Fetal Brain Male	brain
22	chr12:57625200-57629200	Weak transcription	Fetal Heart	heart
23	chr12:57625200-57629600	Weak transcription	Right Atrium	heart
24	chr12:57625200-57631400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:57625400-57628400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:57625400-57628600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:57625400-57628600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:57625400-57628600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:57625400-57628600	Strong transcription	Duodenum Mucosa	Duodenum
30	chr12:57625400-57628800	Strong transcription	Fetal Brain Female	brain
31	chr12:57625400-57629000	Strong transcription	Fetal Thymus	thymus
32	chr12:57625400-57629000	Strong transcription	Ovary	ovary
33	chr12:57625400-57629600	Strong transcription	HMEC	breast
34	chr12:57625400-57630000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:57625600-57628400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr12:57625600-57628400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:57625600-57628600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr12:57625600-57628600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:57625600-57628600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:57625600-57628800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:57625600-57629000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:57625600-57629200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr12:57625800-57628400	Strong transcription	Gastric	stomach
44	chr12:57625800-57628600	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr12:57625800-57628600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:57625800-57628600	Strong transcription	Small Intestine	intestine
47	chr12:57625800-57628800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr12:57625800-57629800	Genic enhancers	NHEK	skin
49	chr12:57625800-57630400	Genic enhancers	NHLF	lung
50	chr12:57626000-57629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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