Variant report

Variant	rs73854516
Chromosome Location	chr3:113285033-113285034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113282001..113285140-chr3:113291116..113294259,3	MCF-7	breast:
2	chr3:113277696..113281833-chr3:113284531..113288441,5	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs58038438	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60211993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61001715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61734094	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72950893	1.00[ASN][1000 genomes]
rs73853723	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73853724	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73853725	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73853728	1.00[ASN][1000 genomes]
rs73853729	1.00[ASN][1000 genomes]
rs73853730	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73853731	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73853734	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73854363	0.95[AFR][1000 genomes]
rs73854364	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73854366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73854517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73854518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73854520	0.95[AFR][1000 genomes]
rs73855948	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73855949	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9829540	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv877349	chr3:113208224-113323787	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv877350	chr3:113208224-113332235	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113276800-113294200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:113277600-113285600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:113278200-113285200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:113279200-113300000	Weak transcription	Thymus	Thymus
5	chr3:113280000-113286400	Weak transcription	Fetal Thymus	thymus
6	chr3:113280200-113286400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:113280200-113299200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:113280200-113321600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr3:113280400-113304000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:113280600-113302400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr3:113280600-113314800	Weak transcription	Spleen	Spleen
12	chr3:113280800-113285600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr3:113281000-113285600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr3:113281000-113286000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr3:113281000-113286400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr3:113281000-113286400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr3:113281200-113286600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:113281400-113302200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr3:113281600-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr3:113281600-113296400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:113281800-113296200	Strong transcription	Primary T cells from cord blood	blood
22	chr3:113282000-113285200	Weak transcription	NHEK	skin
23	chr3:113283200-113289600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr3:113283200-113296200	Strong transcription	GM12878-XiMat	blood
25	chr3:113283400-113292200	Strong transcription	Primary B cells from cord blood	blood
26	chr3:113283600-113285200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:113284800-113285800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:113284800-113286000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:113285000-113285800	Enhancers	HMEC	breast
30	chr3:113285000-113289800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr3:113285000-113290600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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