Variant report

Variant	rs17489408
Chromosome Location	chr7:69920500-69920501
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:69919039..69921545-chr7:69922833..69924700,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12531095	1.00[AFR][1000 genomes]
rs12533923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12537351	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12537762	0.88[AMR][1000 genomes]
rs2189771	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62455222	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62455223	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62455224	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62455226	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62455227	0.95[EUR][1000 genomes]
rs62455783	1.00[AFR][1000 genomes]
rs62455793	1.00[AFR][1000 genomes]
rs62455795	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869342	chr7:69671501-69958576	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv888337	chr7:69707076-69952187	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv529669	chr7:69709373-69974708	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1029586	chr7:69817143-69978454	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv538927	chr7:69817143-69978454	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv888338	chr7:69860713-69952187	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv888339	chr7:69879914-69952187	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv888340	chr7:69879914-69959059	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	nsv1034697	chr7:69913860-70004248	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv538928	chr7:69913860-70004248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr7:69900600-69922800	Weak transcription	Ovary	ovary
3	chr7:69904000-69922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:69911800-69922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:69912400-69924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:69914000-69921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:69914600-69922600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:69918600-69921600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:69918800-69922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:69918800-69922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:69918800-69922400	Weak transcription	Fetal Stomach	stomach
12	chr7:69919000-69922600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:69919000-69923000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:69919800-69924000	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:69920200-69920600	Weak transcription	Fetal Thymus	thymus
16	chr7:69920200-69923600	Enhancers	Primary B cells from cord blood	blood
17	chr7:69920200-69924600	Enhancers	Primary T cells from cord blood	blood
18	chr7:69920400-69922000	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:69920400-69922000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:69920400-69922600	Enhancers	GM12878-XiMat	blood
21	chr7:69920400-69924800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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