Variant report

Variant	rs9613863
Chromosome Location	chr22:29721902-29721903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29701505..29704721-chr22:29721557..29726932,5	MCF-7	breast:
2	chr22:29715103..29718261-chr22:29720462..29723829,3	MCF-7	breast:
3	chr22:29708019..29709690-chr22:29721356..29724944,3	MCF-7	breast:
4	chr22:29721161..29722809-chr22:29736346..29738790,2	K562	blood:
5	chr22:29715357..29719957-chr22:29720911..29723653,4	K562	blood:

Variant related genes	Relation type
ENSG00000100280	Chromatin interaction
ENSG00000100276	Chromatin interaction
ENSG00000185340	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2267134	0.89[CHB][hapmap];0.83[ASN][1000 genomes]
rs3747142	0.94[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3747146	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3761426	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs418267	0.84[ASN][1000 genomes]
rs6006093	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs715589	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9613857	0.86[EUR][1000 genomes]
rs9613860	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9613864	0.93[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9613877	0.89[CHB][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29707400-29740000	Weak transcription	Hela-S3	cervix
2	chr22:29711000-29722200	Weak transcription	Brain Substantia Nigra	brain
3	chr22:29711400-29722000	Weak transcription	Gastric	stomach
4	chr22:29711600-29722000	Weak transcription	Dnd41	blood
5	chr22:29711600-29722200	Weak transcription	Brain Anterior Caudate	brain
6	chr22:29711600-29722200	Weak transcription	Lung	lung
7	chr22:29711800-29722600	Weak transcription	Aorta	Aorta
8	chr22:29711800-29722600	Weak transcription	Left Ventricle	heart
9	chr22:29711800-29733400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr22:29712000-29722200	Weak transcription	Right Ventricle	heart
11	chr22:29712200-29722200	Weak transcription	Brain Hippocampus Middle	brain
12	chr22:29712200-29722200	Weak transcription	Pancreas	Pancrea
13	chr22:29712200-29722400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr22:29713400-29722600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr22:29713600-29722000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:29713800-29722400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr22:29714400-29722200	Weak transcription	Thymus	Thymus
18	chr22:29715000-29722000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr22:29715000-29722600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr22:29716000-29722000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr22:29716000-29722400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:29716200-29722000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:29717000-29722000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr22:29717000-29722200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:29717200-29722000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:29717200-29722200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr22:29717200-29722200	Weak transcription	Fetal Intestine Large	intestine
28	chr22:29717200-29722400	Weak transcription	Brain Germinal Matrix	brain
29	chr22:29717400-29722000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29717400-29722200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:29717400-29722400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr22:29717400-29722600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr22:29717400-29723000	Weak transcription	Fetal Thymus	thymus
34	chr22:29717600-29722600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:29717600-29723000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr22:29718000-29722000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:29718000-29722000	Weak transcription	Fetal Stomach	stomach
38	chr22:29718000-29722200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:29718000-29722200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:29718400-29722200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr22:29718400-29722600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr22:29718400-29724200	Weak transcription	Ovary	ovary
43	chr22:29718600-29722400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:29718600-29722400	Weak transcription	Fetal Lung	lung
45	chr22:29718600-29724000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr22:29718800-29722200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr22:29718800-29722200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:29718800-29722600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr22:29719000-29722200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr22:29719000-29722600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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