Variant report

Variant	rs73930512
Chromosome Location	chr2:39363345-39363346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39346601..39349428-chr2:39359209..39363502,5	MCF-7	breast:
2	chr2:39357363..39365432-chr2:39365480..39370907,10	K562	blood:
3	chr2:39350265..39353771-chr2:39361621..39365560,3	K562	blood:

Variant related genes	Relation type
ENSG00000115904	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11896463	1.00[AMR][1000 genomes]
rs56065106	1.00[AMR][1000 genomes]
rs56149931	1.00[AMR][1000 genomes]
rs59983786	1.00[AMR][1000 genomes]
rs73930385	1.00[AMR][1000 genomes]
rs73930386	1.00[AMR][1000 genomes]
rs73930394	1.00[AMR][1000 genomes]
rs73934118	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39352800-39368600	Weak transcription	HMEC	breast
2	chr2:39355400-39366000	Weak transcription	Hela-S3	cervix
3	chr2:39360600-39366800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr2:39361000-39365000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr2:39361800-39363400	Enhancers	HepG2	liver
6	chr2:39361800-39366800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:39361800-39366800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:39362400-39365800	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:39362600-39364000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:39362600-39364200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:39362600-39364400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:39362600-39364600	Enhancers	Fetal Thymus	thymus
13	chr2:39362600-39364600	Enhancers	Dnd41	blood
14	chr2:39362600-39364800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:39362600-39365400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:39362800-39363400	Enhancers	Primary B cells from peripheral blood	blood
17	chr2:39362800-39363400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr2:39362800-39363400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:39362800-39363400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:39362800-39363400	Enhancers	K562	blood
21	chr2:39362800-39363600	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr2:39362800-39363600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:39362800-39363600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:39362800-39363600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:39362800-39363600	Enhancers	Thymus	Thymus
26	chr2:39362800-39364200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr2:39362800-39364600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr2:39363000-39363400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:39363200-39363400	Enhancers	Aorta	Aorta
30	chr2:39363200-39364800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr2:39363200-39366800	Weak transcription	Fetal Intestine Large	intestine
32	chr2:39363200-39367000	Weak transcription	Primary B cells from cord blood	blood
33	chr2:39363200-39367400	Weak transcription	GM12878-XiMat	blood

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