Variant report

Variant	rs6679518
Chromosome Location	chr1:228633067-228633068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228617056..228620810-chr1:228631528..228634565,4	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10916315	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10916316	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10916318	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10916319	1.00[EUR][1000 genomes]
rs11581037	0.82[JPT][hapmap]
rs11584418	0.82[JPT][hapmap]
rs12091870	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16841344	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16848618	0.89[EUR][1000 genomes]
rs2104436	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2291998	0.89[EUR][1000 genomes]
rs34297060	0.89[EUR][1000 genomes]
rs3738688	1.00[CEU][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs4653550	0.89[EUR][1000 genomes]
rs4653952	0.89[EUR][1000 genomes]
rs4653953	0.89[EUR][1000 genomes]
rs4653957	0.89[EUR][1000 genomes]
rs4653958	0.89[EUR][1000 genomes]
rs4653961	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4653963	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56721656	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56895565	0.89[EUR][1000 genomes]
rs58110358	0.89[EUR][1000 genomes]
rs59225017	0.89[EUR][1000 genomes]
rs60640636	0.89[EUR][1000 genomes]
rs6690116	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7511681	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7528331	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
5	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1009891	chr1:228450763-228742676	Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv517545	chr1:228456147-228685999	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
9	nsv1013500	chr1:228459134-228849601	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
10	nsv873279	chr1:228494790-228681195	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
11	nsv873281	chr1:228505739-228656780	Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
12	esv1808261	chr1:228509427-228674518	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
13	esv2829948	chr1:228509427-228687948	Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
14	nsv549296	chr1:228585837-228720480	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228626200-228633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:228629600-228633200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:228631200-228633400	Weak transcription	Pancreas	Pancrea
4	chr1:228632800-228633200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:228632800-228633200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:228632800-228633200	Bivalent Enhancer	Placenta	Placenta
7	chr1:228632800-228633400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr1:228633000-228633200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
9	chr1:228633000-228633200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:228633000-228633200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:228633000-228633200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:228633000-228633200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr1:228633000-228633200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
14	chr1:228633000-228633200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr1:228633000-228633200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:228633000-228633200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:228633000-228633200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:228633000-228633200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:228633000-228633200	Enhancers	Brain Anterior Caudate	brain
20	chr1:228633000-228633200	Bivalent Enhancer	Brain Hippocampus Middle	brain
21	chr1:228633000-228633200	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr1:228633000-228633200	Enhancers	A549	lung
23	chr1:228633000-228633400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:228633000-228633400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
25	chr1:228633000-228633400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr1:228633000-228633400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr1:228633000-228633400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
28	chr1:228633000-228633400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr1:228633000-228633400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:228633000-228633400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
31	chr1:228633000-228633400	Enhancers	Fetal Brain Male	brain
32	chr1:228633000-228633400	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr1:228633000-228633400	Bivalent Enhancer	Fetal Stomach	stomach
34	chr1:228633000-228633400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr1:228633000-228633600	Weak transcription	K562	blood
36	chr1:228633000-228633800	Bivalent Enhancer	Fetal Heart	heart
37	chr1:228633000-228634000	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr1:228633000-228634200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr1:228633000-228634400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:228633000-228634400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:228633000-228634600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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