Variant report

Variant	rs57224109
Chromosome Location	chr6:30909461-30909462
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30909379..30912231-chr6:30914675..30916969,2	MCF-7	breast:
2	chr6:30889584..30892260-chr6:30907683..30910382,2	MCF-7	breast:
3	chr6:30908915..30911077-chr6:30950110..30952624,2	MCF-7	breast:
4	chr6:30883403..30884976-chr6:30908264..30911485,3	MCF-7	breast:
5	chr6:30844068..30845761-chr6:30908319..30909887,2	K562	blood:

Variant related genes	Relation type
ENSG00000204544	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1264347	0.86[ASN][1000 genomes]
rs58455409	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv462743	chr6:30905313-30957766	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv601483	chr6:30905313-30957766	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30897000-30909800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:30904200-30910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:30904200-30910200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:30905200-30910200	Weak transcription	Right Ventricle	heart
5	chr6:30906400-30909600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:30906600-30909600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:30906600-30910200	Weak transcription	Lung	lung
8	chr6:30907400-30909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:30907400-30910000	Weak transcription	Right Atrium	heart
10	chr6:30907600-30909600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:30907800-30910000	Weak transcription	HMEC	breast
12	chr6:30908200-30909600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr6:30908200-30909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:30908400-30909800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:30908400-30910000	Weak transcription	Left Ventricle	heart
16	chr6:30908600-30910000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:30908600-30910000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:30908600-30910200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:30908600-30910200	Active TSS	Gastric	stomach
20	chr6:30908800-30909600	Active TSS	Stomach Mucosa	stomach
21	chr6:30908800-30910000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:30908800-30910000	Weak transcription	NHEK	skin
23	chr6:30908800-30910200	Weak transcription	Fetal Intestine Large	intestine
24	chr6:30908800-30910200	Weak transcription	Fetal Intestine Small	intestine
25	chr6:30909000-30910000	Weak transcription	Esophagus	oesophagus
26	chr6:30909000-30910200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:30909400-30910800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr6:30909400-30911000	Enhancers	Fetal Heart	heart
29	chr6:30909400-30911000	Enhancers	Pancreas	Pancrea

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