Variant report

Variant	rs57357873
Chromosome Location	chr6:30487666-30487667
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30482331..30485529-chr6:30485801..30488239,4	MCF-7	breast:
2	chr6:30486196..30489557-chr6:30583220..30586473,3	MCF-7	breast:
3	chr6:30482846..30485548-chr6:30486423..30490763,6	MCF-7	breast:
4	chr6:30456400..30459187-chr6:30486953..30490671,4	MCF-7	breast:
5	chr6:30485774..30489692-chr6:30522230..30524813,4	MCF-7	breast:
6	chr6:30481563..30487862-chr6:30521673..30526487,12	K562	blood:
7	chr6:30486362..30488981-chr6:30524366..30525900,2	K562	blood:

Variant related genes	Relation type
ENSG00000204576	Chromatin interaction
ENSG00000204590	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000235781	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4148249	0.80[AFR][1000 genomes]
rs6913164	0.86[AFR][1000 genomes]
rs7757145	0.90[AFR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
7	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30484400-30487800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:30484400-30488200	Weak transcription	Stomach Mucosa	stomach
3	chr6:30484400-30488600	Weak transcription	Colonic Mucosa	Colon
4	chr6:30484400-30488800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:30484600-30487800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:30484600-30487800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:30484600-30488800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:30484600-30488800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:30484600-30489400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr6:30484800-30487800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:30484800-30487800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:30484800-30487800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:30484800-30487800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:30484800-30488200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr6:30484800-30488200	Weak transcription	HepG2	liver
16	chr6:30484800-30488400	Weak transcription	Osteobl	bone
17	chr6:30484800-30488600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:30484800-30495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:30485000-30488000	Weak transcription	Placenta	Placenta
20	chr6:30485000-30488000	Weak transcription	HUVEC	blood vessel
21	chr6:30485000-30489400	Enhancers	Primary T cells from cord blood	blood
22	chr6:30485800-30488400	Weak transcription	Lung	lung
23	chr6:30486000-30500000	Weak transcription	Thymus	Thymus
24	chr6:30486600-30487800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:30486600-30492400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr6:30486800-30488400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr6:30486800-30489400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr6:30486800-30490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:30487000-30488400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:30487000-30489400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:30487200-30488200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:30487200-30488200	Weak transcription	Esophagus	oesophagus
33	chr6:30487200-30488200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:30487200-30490800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr6:30487600-30488200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:30487600-30488600	ZNF genes & repeats	Fetal Thymus	thymus
37	chr6:30487600-30488600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr6:30487600-30489200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:30487600-30489400	Enhancers	Colon Smooth Muscle	Colon

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