Variant report

Variant	rs576022
Chromosome Location	chr6:149636966-149636967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr6:149636914-149637128	K562	blood:	n/a	n/a
2	POLR2A	chr6:149636134-149639393	K562	blood:	n/a	n/a
3	TBL1XR1	chr6:149636915-149637070	K562	blood:	n/a	n/a
4	POLR2A	chr6:149636717-149637022	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:149635359..149638022-chr6:149700186..149702826,2	K562	blood:
2	chr6:149409902..149411675-chr6:149636224..149638635,2	K562	blood:
3	chr6:149406954..149409794-chr6:149636560..149638477,3	MCF-7	breast:
4	chr6:149636797..149639661-chr6:149663144..149666590,3	K562	blood:
5	chr6:149397256..149399835-chr6:149636593..149638648,2	MCF-7	breast:
6	chr6:149619251..149620814-chr6:149634430..149637387,2	K562	blood:
7	chr6:149625453..149629470-chr6:149636058..149640474,5	MCF-7	breast:
8	chr6:149636340..149638301-chr6:150416961..150418644,2	K562	blood:

No data

Variant related genes	Relation type
TAB2	TF binding region
ENSG00000055208	Chromatin interaction
ENSG00000216265	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs2031450	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs237007	1.00[AFR][1000 genomes]
rs237015	0.85[CHB][hapmap]
rs237020	0.84[EUR][1000 genomes]
rs237022	0.85[EUR][1000 genomes]
rs237027	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs237030	0.87[EUR][1000 genomes]
rs237031	0.87[EUR][1000 genomes]
rs237032	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs237033	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs237036	0.87[EUR][1000 genomes]
rs237037	0.87[EUR][1000 genomes]
rs365469	0.84[EUR][1000 genomes]
rs389996	0.84[EUR][1000 genomes]
rs425540	0.84[EUR][1000 genomes]
rs473864	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs474587	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs474726	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs476816	0.81[AMR][1000 genomes]
rs480670	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs483877	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs484969	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs500860	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs505765	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs506573	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs506779	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs520551	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs520683	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs524092	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs537843	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs538706	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs543711	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs548083	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs548925	0.88[EUR][1000 genomes]
rs551627	0.88[EUR][1000 genomes]
rs558044	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs559848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567816	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs569730	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs573684	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs579666	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs580499	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs6916134	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6926840	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7742990	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs7752947	0.87[EUR][1000 genomes];0.82[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	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1015360	chr6:149609804-149649982	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1024106	chr6:149622349-149745053	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149628000-149637800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:149628600-149637200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:149632400-149637200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:149634800-149637200	Weak transcription	K562	blood
5	chr6:149635000-149637200	Weak transcription	Dnd41	blood
6	chr6:149635800-149637400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr6:149635800-149637400	Weak transcription	Fetal Heart	heart
8	chr6:149636000-149637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:149636200-149637400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr6:149636200-149637400	Weak transcription	Fetal Brain Male	brain
11	chr6:149636200-149637400	Weak transcription	Fetal Brain Female	brain
12	chr6:149636600-149637000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:149636600-149637200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:149636600-149637600	Enhancers	Brain Hippocampus Middle	brain
15	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:149636600-149637800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:149636800-149637000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:149636800-149637400	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:149636800-149637600	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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