Variant report

Variant	rs6949384
Chromosome Location	chr7:71763864-71763865
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10251307	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10950303	0.89[AFR][1000 genomes]
rs1232511	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs1320107	0.85[YRI][hapmap]
rs1914379	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2428279	1.00[AFR][1000 genomes]
rs2521199	0.84[AFR][1000 genomes]
rs2521200	0.84[AFR][1000 genomes]
rs2521204	1.00[AFR][1000 genomes]
rs2677280	0.84[AFR][1000 genomes]
rs2677283	1.00[AFR][1000 genomes]
rs2677286	1.00[AFR][1000 genomes]
rs2944836	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2968535	1.00[AMR][1000 genomes]
rs2968536	1.00[AMR][1000 genomes]
rs4295535	1.00[AFR][1000 genomes]
rs4442008	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4518555	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4601191	1.00[AMR][1000 genomes]
rs484279	1.00[AFR][1000 genomes]
rs484343	0.84[AFR][1000 genomes]
rs490212	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs498441	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510451	1.00[AFR][1000 genomes]
rs511253	1.00[AFR][1000 genomes]
rs513388	0.84[AFR][1000 genomes]
rs531685	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs536128	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs548750	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550322	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs563410	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs564528	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs567653	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569837	0.85[YRI][hapmap];1.00[AFR][1000 genomes]
rs572043	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs573987	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs575357	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs579471	0.84[AFR][1000 genomes]
rs6460705	1.00[AFR][1000 genomes]
rs6460706	1.00[AFR][1000 genomes]
rs6460712	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6946262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6948582	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6968000	1.00[AMR][1000 genomes]
rs6969123	0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7791150	1.00[AFR][1000 genomes]
rs859999	1.00[AFR][1000 genomes]
rs864168	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531372	chr7:71300090-71909517	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv491610	chr7:71422560-71803630	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS 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	4 gene(s)	inside rSNPs	diseases
3	nsv531373	chr7:71487076-71765613	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv817506	chr7:71488542-71935721	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1034282	chr7:71531113-71876617	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv529620	chr7:71604785-71935721	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv492243	chr7:71648955-71935721	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1019700	chr7:71677836-71844973	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv538943	chr7:71677836-71844973	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv607460	chr7:71713735-71817899	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1033860	chr7:71715105-71778772	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv538944	chr7:71715105-71778772	Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1032591	chr7:71715105-71794258	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	nsv538945	chr7:71715105-71794258	Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv470299	chr7:71740458-71815170	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv464556	chr7:71740458-71817899	Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv464557	chr7:71744896-71935721	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv607461	chr7:71744896-71935721	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv1029656	chr7:71745055-71935721	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71759600-71790200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71762400-71764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:71762800-71765000	Enhancers	Fetal Thymus	thymus
4	chr7:71763000-71764600	Enhancers	Fetal Brain Male	brain
5	chr7:71763000-71764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71763200-71769000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:71763600-71764200	Enhancers	Thymus	Thymus
8	chr7:71763800-71764200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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