Variant report

Variant	rs5994294
Chromosome Location	chr22:30758236-30758237
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30757357..30760929-chr22:30762187..30764888,3	K562	blood:
2	chr22:30756965..30759597-chr22:30762936..30765367,3	MCF-7	breast:
3	chr22:30748063..30751052-chr22:30756831..30759768,2	K562	blood:
4	chr22:30757801..30761495-chr22:30765799..30770713,4	MCF-7	breast:
5	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
6	chr22:30751972..30754133-chr22:30756727..30759979,4	K562	blood:
7	chr22:30682429..30684183-chr22:30757708..30759569,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187860	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1010324	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11089442	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs11089447	0.91[CEU][hapmap];0.85[AMR][1000 genomes]
rs11089448	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11703385	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12169094	0.91[ASN][1000 genomes]
rs12171261	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2074731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2267154	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2267155	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2267156	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2283866	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283870	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2283871	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2299827	0.83[CEU][hapmap];0.81[CHB][hapmap];0.82[EUR][1000 genomes]
rs2839998	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57940170	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5994305	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs5994306	0.80[EUR][1000 genomes]
rs5997621	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs5997637	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5997646	0.91[CEU][hapmap]
rs5997649	0.94[YRI][hapmap]
rs61583714	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71331235	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7287885	0.84[YRI][hapmap]
rs7288366	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7289360	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7289384	0.91[ASN][1000 genomes]
rs7290317	0.91[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8137033	0.83[YRI][hapmap]
rs8141656	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9619096	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9619098	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9619105	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9620984	0.91[CEU][hapmap];0.81[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30753200-30782200	Weak transcription	Stomach Mucosa	stomach
2	chr22:30753400-30761600	Weak transcription	Esophagus	oesophagus
3	chr22:30753400-30771400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:30753400-30775200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:30753400-30776000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr22:30753400-30777000	Weak transcription	Aorta	Aorta
7	chr22:30753600-30758600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:30753600-30758600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:30753600-30761600	Weak transcription	Lung	lung
10	chr22:30753600-30761800	Weak transcription	Fetal Lung	lung
11	chr22:30753600-30762000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:30753600-30765800	Weak transcription	Fetal Kidney	kidney
13	chr22:30753600-30765800	Weak transcription	Pancreas	Pancrea
14	chr22:30753600-30766400	Weak transcription	Placenta	Placenta
15	chr22:30753600-30769200	Weak transcription	Brain Hippocampus Middle	brain
16	chr22:30753600-30769400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr22:30753600-30770000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:30753600-30770200	Weak transcription	Brain Substantia Nigra	brain
19	chr22:30753600-30771400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr22:30753600-30772600	Weak transcription	NHLF	lung
21	chr22:30753600-30772800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr22:30753600-30773000	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr22:30753600-30773000	Weak transcription	Gastric	stomach
24	chr22:30753600-30773400	Weak transcription	Right Ventricle	heart
25	chr22:30753600-30775400	Weak transcription	Colon Smooth Muscle	Colon
26	chr22:30753600-30775400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr22:30753600-30776200	Weak transcription	Thymus	Thymus
28	chr22:30753600-30779200	Weak transcription	Left Ventricle	heart
29	chr22:30753600-30779400	Weak transcription	NHEK	skin
30	chr22:30753600-30779600	Weak transcription	NH-A	brain
31	chr22:30753600-30782000	Weak transcription	Colonic Mucosa	Colon
32	chr22:30753600-30782000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr22:30753600-30782200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr22:30753600-30782400	Weak transcription	Primary T cells from cord blood	blood
35	chr22:30753800-30768800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:30753800-30773400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr22:30753800-30775400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:30754000-30761600	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr22:30754000-30762000	Weak transcription	Spleen	Spleen
40	chr22:30754000-30768800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:30754000-30771400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:30754000-30773400	Weak transcription	Liver	Liver
43	chr22:30754200-30758400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr22:30754200-30758400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:30754200-30758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:30754200-30761600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:30754200-30761800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr22:30754200-30761800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr22:30754200-30770400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr22:30754200-30772800	Weak transcription	H9 Cell Line	embryonic stem cell

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