Variant report

Variant	rs10253217
Chromosome Location	chr7:69912439-69912440
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	chr7:69911189..69912929-chr7:69913285..69916011,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10230101	0.93[AMR][1000 genomes]
rs10230510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10235543	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10251859	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10277221	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10486878	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12111684	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12113216	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13437849	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141545	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17141576	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41384947	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57762223	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58156290	0.98[ASN][1000 genomes]
rs6460546	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6965900	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967417	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783204	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7786019	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7789284	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69896800-69914200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:69898200-69918400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:69899000-69930200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:69899800-69918000	Weak transcription	Fetal Stomach	stomach
5	chr7:69900600-69922800	Weak transcription	Ovary	ovary
6	chr7:69901000-69918000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:69904000-69922200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:69906400-69914200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:69911800-69912600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:69911800-69912800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:69911800-69922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:69912000-69912600	Enhancers	NHEK	skin
13	chr7:69912200-69913400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:69912200-69913400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:69912200-69913600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:69912400-69912600	Enhancers	Fetal Brain Female	brain
17	chr7:69912400-69913400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:69912400-69924800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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