Variant report

Variant	rs612049
Chromosome Location	chr6:35991891-35991892
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	SIN3A	chr6:35991758-35992651	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35958044..35960886-chr6:35991621..35993771,2	K562	blood:
2	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:

Variant related genes	Relation type
MAPK14	TF binding region
ENSG00000237719	Chromatin interaction
ENSG00000271304	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2237095	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2815805	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2859144	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs584884	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58604706	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs596446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs603869	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs611846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61764190	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs620491	1.00[EUR][1000 genomes]
rs620493	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs626386	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6457861	1.00[CEU][hapmap]
rs686431	1.00[EUR][1000 genomes]
rs6908372	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs6940239	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7742178	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7750653	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7764721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768950	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768956	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7770710	0.83[ASW][hapmap];1.00[CEU][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7774786	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7774934	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9348984	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9462156	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9462157	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9470200	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470207	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470217	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35991400-35992000	Active TSS	Primary B cells from cord blood	blood
2	chr6:35991600-35992000	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:35991600-35992000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:35991600-35992000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:35991600-35992000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:35991600-35992000	Enhancers	Fetal Thymus	thymus
7	chr6:35991600-35992200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:35991600-35992200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:35991600-35992200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:35991600-35992200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:35991600-35992600	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr6:35991600-35992800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:35991600-35992800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr6:35991600-35992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:35991600-35992800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:35991600-35993400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr6:35991800-35992000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr6:35991800-35992000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:35991800-35992000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:35991800-35992000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr6:35991800-35992000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:35991800-35992000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:35991800-35992000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr6:35991800-35992000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:35991800-35992200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:35991800-35992200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:35991800-35992200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:35991800-35992200	Enhancers	Thymus	Thymus
29	chr6:35991800-35992400	Enhancers	Placenta	Placenta
30	chr6:35991800-35992400	Enhancers	Right Atrium	heart
31	chr6:35991800-35992600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr6:35991800-35992600	Active TSS	H9 Cell Line	embryonic stem cell
33	chr6:35991800-35992600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:35991800-35992600	Active TSS	Brain Angular Gyrus	brain
35	chr6:35991800-35992600	Bivalent Enhancer	Fetal Brain Male	brain
36	chr6:35991800-35992800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr6:35991800-35992800	Active TSS	Brain Anterior Caudate	brain
38	chr6:35991800-35992800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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