Variant report

Variant	rs1005679
Chromosome Location	chr22:34289887-34289888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:34283903..34286858-chr22:34289207..34290909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133424	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16993248	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2213360	0.92[CHB][hapmap]
rs2267312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267313	1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2267314	0.93[CHB][hapmap]
rs2267315	0.93[CHB][hapmap]
rs2267316	0.93[CHB][hapmap]
rs2267319	0.83[EUR][1000 genomes]
rs2283957	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2283958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2283959	1.00[CHB][hapmap]
rs2413207	0.97[ASN][1000 genomes]
rs5754748	0.92[ASN][1000 genomes]
rs5754752	0.92[CHB][hapmap]
rs61356969	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934109	chr22:33722066-34339500	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1057450	chr22:33928913-34849012	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv914990	chr22:34090440-34373293	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv914991	chr22:34106384-34293516	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1061736	chr22:34178034-34394918	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv544689	chr22:34178034-34394918	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1066419	chr22:34231732-34553006	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv544690	chr22:34231732-34553006	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3343210	chr22:34236744-34404210	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv588938	chr22:34270568-34307875	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:34273200-34292200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr22:34274600-34291200	Enhancers	Fetal Heart	heart
3	chr22:34280000-34292200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr22:34280800-34293200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:34283000-34292000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:34285000-34292400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr22:34285400-34290800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr22:34285600-34290600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr22:34286000-34290400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:34286000-34291800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:34286200-34290400	Weak transcription	Esophagus	oesophagus
12	chr22:34286400-34290600	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:34286400-34290600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr22:34286400-34292200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr22:34286400-34296600	Weak transcription	Adipose Nuclei	Adipose
16	chr22:34286800-34290600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr22:34287000-34290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:34287200-34291400	Weak transcription	Primary B cells from peripheral blood	blood
19	chr22:34287400-34294400	Weak transcription	Fetal Brain Male	brain
20	chr22:34287800-34298600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr22:34287800-34299000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr22:34288000-34290000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr22:34288200-34290800	Enhancers	Liver	Liver
24	chr22:34288200-34295000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:34288200-34303000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:34288600-34290000	Weak transcription	Psoas Muscle	Psoas
27	chr22:34288600-34291200	Enhancers	HepG2	liver
28	chr22:34288600-34293000	Weak transcription	Fetal Lung	lung
29	chr22:34288800-34290200	Weak transcription	Right Atrium	heart
30	chr22:34288800-34290400	Weak transcription	Brain Anterior Caudate	brain
31	chr22:34288800-34291000	Enhancers	Fetal Intestine Small	intestine
32	chr22:34288800-34292400	Weak transcription	Ovary	ovary
33	chr22:34288800-34292800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr22:34289200-34290000	Enhancers	Stomach Mucosa	stomach
35	chr22:34289400-34290000	Enhancers	Duodenum Mucosa	Duodenum
36	chr22:34289600-34290200	Enhancers	Small Intestine	intestine
37	chr22:34289800-34290800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr22:34289800-34290800	Enhancers	Lung	lung
39	chr22:34289800-34291000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:34289800-34291000	Enhancers	Fetal Intestine Large	intestine
41	chr22:34289800-34291200	Enhancers	Pancreas	Pancrea
42	chr22:34289800-34291800	Enhancers	Left Ventricle	heart
43	chr22:34289800-34292000	Enhancers	Gastric	stomach
44	chr22:34289800-34296400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:34289800-34299200	Enhancers	Right Ventricle	heart

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