Variant report

Variant	rs12199314
Chromosome Location	chr6:161584383-161584384
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	chr6:161574079..161576622-chr6:161584253..161586055,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10455875	1.00[ASN][1000 genomes]
rs11965825	1.00[CHD][hapmap]
rs12190406	1.00[ASN][1000 genomes]
rs12191615	1.00[CHD][hapmap]
rs12195072	1.00[CHD][hapmap]
rs12203149	1.00[ASN][1000 genomes]
rs12203960	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs12208953	1.00[ASN][1000 genomes]
rs13196735	1.00[ASN][1000 genomes]
rs13197494	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1474915	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064719	1.00[ASN][1000 genomes]
rs2277092	1.00[ASN][1000 genomes]
rs34025755	1.00[ASN][1000 genomes]
rs41330446	1.00[MEX][hapmap]
rs6900500	1.00[CHD][hapmap]
rs6901905	1.00[ASN][1000 genomes]
rs6902571	1.00[ASN][1000 genomes]
rs6923835	1.00[CHD][hapmap]
rs71565794	1.00[ASN][1000 genomes]
rs71565795	1.00[ASN][1000 genomes]
rs73786015	1.00[ASN][1000 genomes]
rs7748827	1.00[CHD][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1030852	chr6:161477750-161589394	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv528938	chr6:161580532-161584383	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161541000-161584600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:161542000-161585600	Weak transcription	Fetal Kidney	kidney
3	chr6:161544600-161589600	Weak transcription	Fetal Brain Male	brain
4	chr6:161545000-161584800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:161548400-161590800	Weak transcription	Fetal Thymus	thymus
6	chr6:161549800-161589400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr6:161550000-161584600	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:161553800-161586600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:161554000-161591000	Weak transcription	Colonic Mucosa	Colon
10	chr6:161555000-161585000	Weak transcription	Right Atrium	heart
11	chr6:161555800-161586600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr6:161558200-161589400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr6:161559400-161587600	Weak transcription	Fetal Intestine Large	intestine
14	chr6:161560400-161584600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:161560600-161584400	Weak transcription	NHLF	lung
16	chr6:161563400-161588200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:161567600-161585400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:161569200-161584600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:161571200-161587600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:161571600-161587400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:161572800-161586200	Weak transcription	K562	blood
22	chr6:161574600-161592400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:161575000-161584800	Weak transcription	Fetal Lung	lung
24	chr6:161575200-161584400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr6:161575600-161591000	Weak transcription	Gastric	stomach
26	chr6:161575600-161593400	Weak transcription	Esophagus	oesophagus
27	chr6:161578600-161587200	Strong transcription	Fetal Brain Female	brain
28	chr6:161578600-161587600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:161578800-161587000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:161578800-161587800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:161579000-161587600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:161579200-161584600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr6:161579200-161590200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:161579400-161584600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:161579400-161587600	Strong transcription	Fetal Stomach	stomach
36	chr6:161579600-161587000	Strong transcription	Placenta	Placenta
37	chr6:161579600-161587400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:161579800-161587400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:161580000-161588000	Strong transcription	Primary T cells from cord blood	blood
40	chr6:161580200-161587600	Strong transcription	Brain Germinal Matrix	brain
41	chr6:161580400-161587800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:161580600-161584400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr6:161580600-161590800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:161581000-161584400	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:161581200-161585000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr6:161581400-161584800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr6:161581400-161587600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:161581600-161586800	Genic enhancers	Brain Substantia Nigra	brain
49	chr6:161581800-161585400	Weak transcription	NH-A	brain
50	chr6:161581800-161587400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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