Variant report

Variant	rs9613860
Chromosome Location	chr22:29707955-29707956
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29707397..29709984-chr22:29754201..29756527,2	MCF-7	breast:
2	chr22:29707630..29710061-chr22:29735092..29737688,2	K562	blood:
3	chr22:29706994..29708820-chr22:29714002..29716442,2	K562	blood:
4	chr22:29706961..29711668-chr22:29712911..29717067,5	MCF-7	breast:
5	chr22:29704698..29709036-chr22:29709270..29712865,10	MCF-7	breast:
6	chr22:29663790..29666249-chr22:29704242..29708353,4	K562	blood:
7	chr22:29194146..29196945-chr22:29707934..29709820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182944	Chromatin interaction
ENSG00000100280	Chromatin interaction
ENSG00000273216	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000226471	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3747142	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3747146	0.91[EUR][1000 genomes]
rs3761426	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58595531	0.87[ASN][1000 genomes]
rs6006093	0.91[EUR][1000 genomes]
rs715589	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9613857	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9613863	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9613864	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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	46 gene(s)	inside rSNPs	diseases
2	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv829155	chr22:29664396-29724001	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv914959	chr22:29696438-29712874	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv914960	chr22:29696438-29714069	Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29703600-29708000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:29703800-29708000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:29703800-29708400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr22:29703800-29709400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:29704000-29709600	Enhancers	Placenta	Placenta
6	chr22:29704200-29708800	Genic enhancers	Fetal Muscle Leg	muscle
7	chr22:29704400-29708000	Enhancers	Pancreas	Pancrea
8	chr22:29704400-29708600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:29704600-29708000	Genic enhancers	NHLF	lung
10	chr22:29705200-29708000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:29705200-29708000	Enhancers	Esophagus	oesophagus
12	chr22:29705400-29708200	Enhancers	Stomach Mucosa	stomach
13	chr22:29705600-29708600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:29705800-29708000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:29706200-29708000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:29706200-29708400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:29706400-29708000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:29706400-29708200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:29706400-29708200	Enhancers	Brain Germinal Matrix	brain
20	chr22:29706400-29708600	Enhancers	HSMMtube	muscle
21	chr22:29706600-29708000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr22:29706600-29708200	Enhancers	NHDF-Ad	bronchial
23	chr22:29706600-29708400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:29706600-29709200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:29706600-29711000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr22:29706800-29708200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr22:29707000-29708000	Enhancers	HMEC	breast
28	chr22:29707000-29708400	Enhancers	Brain Angular Gyrus	brain
29	chr22:29707000-29709000	Weak transcription	Small Intestine	intestine
30	chr22:29707200-29708000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:29707200-29708000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr22:29707400-29708000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr22:29707400-29708000	Enhancers	Duodenum Mucosa	Duodenum
34	chr22:29707400-29708000	Active TSS	Rectal Smooth Muscle	rectum
35	chr22:29707400-29708200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr22:29707400-29708200	Enhancers	Brain Anterior Caudate	brain
37	chr22:29707400-29708200	Enhancers	Brain Cingulate Gyrus	brain
38	chr22:29707400-29708200	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr22:29707400-29708200	Enhancers	NH-A	brain
40	chr22:29707400-29708800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:29707400-29709200	Weak transcription	Liver	Liver
42	chr22:29707400-29709800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:29707400-29710400	Weak transcription	K562	blood
44	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
45	chr22:29707600-29708000	Genic enhancers	Spleen	Spleen
46	chr22:29707600-29708000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr22:29707600-29708000	Weak transcription	NHEK	skin
48	chr22:29707600-29708200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:29707600-29708200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr22:29707600-29708200	Enhancers	Rectal Mucosa Donor 31	rectum

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