Variant report

Variant	rs6959198
Chromosome Location	chr7:126986135-126986136
allele	C/G
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:10)
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	POLR2A	chr7:126985052-127000124	K562	blood:	n/a	n/a
2	POLR2A	chr7:126985781-126986171	U87	brain:	n/a	n/a
3	STAT3	chr7:126986055-126986253	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr7:126985342-126987332	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126983343..126987079-chr7:126991252..126994803,3	K562	blood:
2	chr7:126985529..126987852-chr7:126995561..126998469,2	K562	blood:
3	chr7:126985391..126987885-chr7:127220985..127222536,2	MCF-7	breast:
4	chr7:126979918..126982217-chr7:126984570..126987487,3	K562	blood:
5	chr7:126985955..126988348-chr7:127020622..127023787,3	K562	blood:
6	chr7:126985498..126988348-chr7:127020185..127023787,5	K562	blood:
7	chr7:126977128..126979944-chr7:126984146..126986183,2	K562	blood:
8	chr7:126975549..126977117-chr7:126985194..126987625,2	MCF-7	breast:
9	chr7:126985549..126992875-chr7:127029251..127034121,12	K562	blood:
10	chr7:126985770..126989525-chr7:127030949..127034199,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000224138	TF binding region
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10251884	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10272297	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1029358	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1029359	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1029360	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11563648	0.83[AFR][1000 genomes]
rs12706779	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1361937	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1361938	0.95[YRI][hapmap]
rs1361939	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1361941	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs1361944	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1419395	1.00[YRI][hapmap]
rs1419396	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1419397	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1419412	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1419413	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1419415	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1419422	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1557640	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1946106	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2027954	1.00[YRI][hapmap]
rs2040500	1.00[YRI][hapmap]
rs2188182	1.00[CEU][hapmap];0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2402858	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3944151	0.83[AFR][1000 genomes]
rs4548117	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4731350	1.00[YRI][hapmap]
rs4731351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467122	1.00[YRI][hapmap]
rs6957320	1.00[YRI][hapmap]
rs6972420	1.00[YRI][hapmap]
rs7779672	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7805194	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7805256	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7810990	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs916601	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs951808	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs986585	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526043	chr7:126985158-126998210	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126982000-126987000	Weak transcription	HSMM	muscle
2	chr7:126984400-126987600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
4	chr7:126984600-126987600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr7:126984800-126987600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:126984800-126987600	Weak transcription	K562	blood
7	chr7:126985600-126987600	Weak transcription	Thymus	Thymus
8	chr7:126985800-126987600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr7:126986000-126986200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr7:126986000-126987600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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