Variant report

Variant	rs10797997
Chromosome Location	chr1:185009090-185009091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185006708..185009603-chr1:185013387..185015554,2	MCF-7	breast:
2	chr1:184983211..184985118-chr1:185007746..185010406,2	K562	blood:
3	chr1:185000396..185004587-chr1:185007338..185010464,3	K562	blood:

Variant related genes	Relation type
ENSG00000121481	Chromatin interaction
ENSG00000201312	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1008502	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs1046592	1.00[CEU][hapmap]
rs10489581	0.89[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap]
rs10797998	1.00[CEU][hapmap]
rs10911674	1.00[ASW][hapmap];0.83[MKK][hapmap]
rs10911686	0.91[AMR][1000 genomes]
rs12022419	1.00[ASW][hapmap];0.85[TSI][hapmap]
rs12023744	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12027607	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12028809	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap]
rs12035073	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12037692	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12038919	1.00[ASW][hapmap];0.83[MKK][hapmap]
rs12040650	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043427	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12043495	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap]
rs12043617	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12044161	1.00[CEU][hapmap];0.92[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12049293	0.80[EUR][1000 genomes]
rs12064938	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12086086	1.00[CEU][hapmap]
rs12094983	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401293	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12404644	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs12408279	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs12408500	0.86[AMR][1000 genomes]
rs12409926	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs1407554	1.00[CEU][hapmap]
rs1544052	1.00[ASW][hapmap];1.00[CEU][hapmap]
rs16823740	0.92[EUR][1000 genomes]
rs2378958	1.00[ASW][hapmap]
rs3766720	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[MKK][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs3766723	1.00[CEU][hapmap];0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs3806243	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes]
rs72724103	0.91[AMR][1000 genomes]
rs72724108	0.82[AMR][1000 genomes]
rs72739677	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72739679	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72741816	0.86[AMR][1000 genomes]
rs72741817	0.87[AMR][1000 genomes]
rs72741819	0.91[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv522073	chr1:184986725-185013349	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv3320919	chr1:185008329-185013127	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	esv3520379	chr1:185008679-185012827	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv3520382	chr1:185009079-185012777	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185008400-185009600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:185008600-185010200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:185008800-185009400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:185009000-185010600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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