Variant report

Variant	rs4711248
Chromosome Location	chr6:30907999-30908000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30889584..30892260-chr6:30907683..30910382,2	MCF-7	breast:
2	chr6:30885492..30888779-chr6:30905268..30908318,3	K562	blood:
3	chr6:30896359..30898136-chr6:30906028..30908064,2	K562	blood:

Variant related genes	Relation type
ENSG00000137411	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs13212094	1.00[AFR][1000 genomes]
rs16897919	1.00[AFR][1000 genomes]
rs16897933	1.00[AFR][1000 genomes]
rs2286654	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2394447	0.81[ASN][1000 genomes]
rs3131921	0.84[ASN][1000 genomes]
rs3869091	1.00[EUR][1000 genomes]
rs4711250	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4713378	1.00[AFR][1000 genomes]
rs9295936	0.96[ASN][1000 genomes]
rs9295937	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9348844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9357103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9366762	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9368645	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9368647	1.00[ASN][1000 genomes]
rs9368648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9378150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9391637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9394024	1.00[AFR][1000 genomes]
rs9404935	1.00[AMR][1000 genomes];1.00[EUR][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:31 , 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	chr6:30905600-30909000	Enhancers	Esophagus	oesophagus
6	chr6:30905800-30908600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:30906000-30908600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:30906400-30908600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:30906400-30909600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr6:30906600-30909600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:30906600-30910200	Weak transcription	Lung	lung
12	chr6:30907200-30908800	Enhancers	Stomach Mucosa	stomach
13	chr6:30907400-30908000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:30907400-30908400	Bivalent Enhancer	NHEK	skin
15	chr6:30907400-30909800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:30907400-30910000	Weak transcription	Right Atrium	heart
17	chr6:30907600-30908200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
18	chr6:30907600-30908200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:30907600-30908200	Enhancers	Gastric	stomach
20	chr6:30907600-30908400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr6:30907600-30908400	Enhancers	Left Ventricle	heart
22	chr6:30907600-30908800	Enhancers	Fetal Intestine Large	intestine
23	chr6:30907600-30909000	Enhancers	Pancreas	Pancrea
24	chr6:30907600-30909000	Enhancers	K562	blood
25	chr6:30907600-30909600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:30907800-30908000	Bivalent Enhancer	Fetal Muscle Leg	muscle
27	chr6:30907800-30908200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:30907800-30908400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:30907800-30908600	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr6:30907800-30908800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr6:30907800-30910000	Weak transcription	HMEC	breast

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