Variant report

Variant	rs57129381
Chromosome Location	chr6:2025429-2025430
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:1607895..1612984-chr6:2025307..2029705,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17133008	1.00[AMR][1000 genomes]
rs17134405	1.00[AMR][1000 genomes]
rs57539660	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58341806	1.00[AMR][1000 genomes]
rs58755559	1.00[AMR][1000 genomes]
rs6941001	1.00[AMR][1000 genomes]
rs73716920	1.00[AMR][1000 genomes]
rs73716926	1.00[AMR][1000 genomes]
rs73716928	1.00[AMR][1000 genomes]
rs73716936	1.00[AMR][1000 genomes]
rs7738355	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2006200-2034800	Weak transcription	HepG2	liver
2	chr6:2016000-2026800	Weak transcription	Aorta	Aorta
3	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:2021600-2028600	Weak transcription	GM12878-XiMat	blood
5	chr6:2022000-2027000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr6:2022200-2026400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:2022200-2026400	Weak transcription	Left Ventricle	heart
8	chr6:2022200-2026400	Weak transcription	Pancreas	Pancrea
9	chr6:2022200-2030600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:2022200-2031600	Weak transcription	Esophagus	oesophagus
11	chr6:2022400-2025800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:2022400-2026400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:2022400-2027400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:2022400-2028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr6:2022400-2035000	Weak transcription	Gastric	stomach
16	chr6:2022400-2042800	Weak transcription	Right Atrium	heart
17	chr6:2022400-2055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr6:2022600-2028800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:2022600-2028800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:2022600-2028800	Weak transcription	Stomach Mucosa	stomach
22	chr6:2023800-2028800	Weak transcription	Fetal Thymus	thymus
23	chr6:2024000-2028600	Weak transcription	Thymus	Thymus
24	chr6:2024000-2028800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr6:2024600-2028400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:2024600-2028600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:2024800-2028600	Weak transcription	Primary T cells from cord blood	blood
28	chr6:2024800-2028600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:2024800-2028600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:2024800-2028600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr6:2025000-2028600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr6:2025000-2028600	Weak transcription	Dnd41	blood

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