Variant report

Variant	rs6667215
Chromosome Location	chr1:224019968-224019969
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224017359..224022811-chr1:224031085..224036329,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143514	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1003061	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1153928	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153937	0.85[ASN][1000 genomes]
rs1153938	0.85[ASN][1000 genomes]
rs1153943	0.84[ASN][1000 genomes]
rs1153944	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1153946	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153950	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153952	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153954	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1153956	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1222081	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222123	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222126	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1222127	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1222147	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222148	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1222153	0.84[AMR][1000 genomes]
rs1222158	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1228475	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1538140	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17739	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1982611	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60739082	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6604726	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6658724	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661816	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6694471	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6698919	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs898878	0.93[AMR][1000 genomes];0.98[EUR][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	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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 target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:224002200-224020200	Weak transcription	Placenta	Placenta
4	chr1:224002200-224020200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:224007000-224024000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:224007800-224020200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:224008800-224020200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:224009000-224020400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:224009200-224020400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:224009400-224020200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:224009400-224023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:224010200-224026400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:224011000-224020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:224013800-224021600	Weak transcription	Ovary	ovary
15	chr1:224014000-224020200	Weak transcription	Liver	Liver
16	chr1:224014000-224020200	Weak transcription	Esophagus	oesophagus
17	chr1:224014200-224020200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:224014200-224020200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:224014200-224020400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:224014200-224021400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:224014200-224023400	Weak transcription	Thymus	Thymus
22	chr1:224014200-224023400	Weak transcription	Dnd41	blood
23	chr1:224014200-224024400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:224014400-224020400	Weak transcription	Fetal Thymus	thymus
25	chr1:224015200-224020000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:224015200-224020200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:224015200-224020200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr1:224015200-224020200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:224015200-224020200	Weak transcription	Aorta	Aorta
30	chr1:224015200-224020200	Weak transcription	Right Ventricle	heart
31	chr1:224015200-224020400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:224015200-224020400	Weak transcription	Lung	lung
33	chr1:224015200-224023800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:224015400-224020000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:224015400-224020200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:224015400-224020200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:224015400-224020200	Weak transcription	Left Ventricle	heart
38	chr1:224015400-224020200	Weak transcription	Pancreas	Pancrea
39	chr1:224015400-224020200	Weak transcription	Psoas Muscle	Psoas
40	chr1:224015400-224020200	Weak transcription	Right Atrium	heart
41	chr1:224015400-224020400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:224015400-224020400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:224015400-224020400	Weak transcription	Gastric	stomach
44	chr1:224015400-224020400	Weak transcription	Spleen	Spleen
45	chr1:224015400-224023600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:224015400-224025000	Weak transcription	Fetal Stomach	stomach
47	chr1:224015600-224020000	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr1:224015800-224024200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:224016600-224020000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr1:224017000-224021200	Weak transcription	Primary B cells from cord blood	blood

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