Variant report

Variant	rs6977420
Chromosome Location	chr7:71087923-71087924
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:71087444..71089521-chr7:71091898..71094227,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10227562	1.00[CEU][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10237977	0.88[MEX][hapmap];0.92[TSI][hapmap]
rs10240023	1.00[CEU][hapmap]
rs10243758	0.85[EUR][1000 genomes]
rs10246555	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10246838	0.96[EUR][1000 genomes]
rs10247797	1.00[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10248083	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10254307	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10255382	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10255832	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10265750	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10270941	0.85[EUR][1000 genomes]
rs10273024	0.88[MEX][hapmap];0.92[TSI][hapmap]
rs10277067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10950271	0.88[MEX][hapmap];0.86[TSI][hapmap]
rs11971870	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11972325	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11972420	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11979523	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11983547	1.00[CEU][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs17143730	0.88[YRI][hapmap];0.87[AFR][1000 genomes]
rs17143757	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1880636	1.00[CEU][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28379843	0.87[AFR][1000 genomes]
rs28666715	0.87[AFR][1000 genomes]
rs28758566	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4719160	0.94[EUR][1000 genomes]
rs57799997	1.00[EUR][1000 genomes]
rs6944213	1.00[CEU][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.92[TSI][hapmap]
rs6970080	0.88[LWK][hapmap]
rs73371243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371247	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371248	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371254	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371256	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73371257	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371264	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371269	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371270	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73371280	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7795733	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1026896	chr7:71003462-71721516	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv516049	chr7:71026463-71280299	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1019799	chr7:71027947-71274161	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv538938	chr7:71027947-71274161	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1016182	chr7:71033825-71285800	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1034811	chr7:71033825-71288961	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1024288	chr7:71039619-71285800	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1027835	chr7:71055226-71281334	Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv538939	chr7:71055226-71281334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1026364	chr7:71055226-71287960	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv538940	chr7:71055226-71287960	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv948337	chr7:71057204-71277518	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71080200-71090200	Weak transcription	Fetal Brain Female	brain
2	chr7:71080200-71092200	Weak transcription	Ovary	ovary
3	chr7:71080400-71090600	Weak transcription	NH-A	brain
4	chr7:71080800-71091800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:71081000-71088600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:71081400-71097200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:71083400-71089200	Weak transcription	Fetal Brain Male	brain
8	chr7:71085200-71091200	Weak transcription	HSMM	muscle
9	chr7:71086200-71088800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:71086400-71095000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:71086400-71097200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:71086400-71097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:71086400-71098200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:71086600-71098200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:71087800-71088200	Weak transcription	Fetal Muscle Leg	muscle

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