Variant report

Variant	rs2240422
Chromosome Location	chr22:30700924-30700925
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30642799..30644915-chr22:30699451..30702374,2	MCF-7	breast:
2	chr22:30698626..30701089-chr22:30721523..30724140,3	MCF-7	breast:
3	chr22:30698659..30701498-chr22:30769224..30771586,2	MCF-7	breast:
4	chr22:30692354..30698688-chr22:30699927..30704803,9	K562	blood:
5	chr22:30700771..30701528-chr22:30722149..30722954,2	MCF-7	breast:
6	chr22:30692354..30696074-chr22:30699261..30701537,3	K562	blood:
7	chr22:30684219..30686932-chr22:30699973..30702656,2	MCF-7	breast:
8	chr22:30699910..30702358-chr22:30713888..30716292,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000187860	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000128342	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1476659	0.80[CEU][hapmap];0.95[GIH][hapmap]
rs1860217	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2072157	0.81[CEU][hapmap]
rs2074651	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs2074732	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2074733	0.83[ASW][hapmap];0.82[YRI][hapmap]
rs2283865	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28523826	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820003	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5749090	0.82[CHB][hapmap];0.86[GIH][hapmap]
rs5753083	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753092	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753093	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753109	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5753117	0.85[CEU][hapmap];0.86[CHB][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap]
rs5997605	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5997628	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5997629	0.81[CEU][hapmap];0.86[CHB][hapmap];0.86[GIH][hapmap];0.82[MEX][hapmap]
rs5997641	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs7292744	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73390209	0.81[EUR][1000 genomes]
rs757660	0.82[CHB][hapmap];0.84[MEX][hapmap]
rs757870	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8138401	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	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	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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
4	nsv1062388	chr22:30649179-30711443	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv984527	chr22:30698358-30732712	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
2	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:30687400-30701200	Weak transcription	K562	blood
6	chr22:30687400-30706800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:30687600-30701400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:30690800-30701600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:30691000-30706800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr22:30693200-30701000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:30693400-30701800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr22:30695400-30701000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:30695400-30706800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:30696400-30701000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr22:30696400-30701200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:30696400-30703200	Enhancers	Brain Hippocampus Middle	brain
17	chr22:30696400-30703200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr22:30696600-30701000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr22:30696600-30701000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr22:30696600-30702400	Enhancers	Right Atrium	heart
21	chr22:30697000-30703600	Enhancers	Brain Substantia Nigra	brain
22	chr22:30697200-30702800	Genic enhancers	HSMM	muscle
23	chr22:30697400-30701000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:30697600-30701200	Genic enhancers	Thymus	Thymus
26	chr22:30697600-30701800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:30697600-30703200	Enhancers	Brain Cingulate Gyrus	brain
28	chr22:30697600-30703200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr22:30697800-30701600	Enhancers	Small Intestine	intestine
30	chr22:30698000-30701200	Genic enhancers	Dnd41	blood
31	chr22:30698000-30702400	Enhancers	Pancreas	Pancrea
32	chr22:30698200-30702400	Enhancers	Right Ventricle	heart
33	chr22:30698600-30702000	Weak transcription	A549	lung
34	chr22:30698600-30705800	Enhancers	Colon Smooth Muscle	Colon
35	chr22:30698800-30701600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:30698800-30705600	Weak transcription	Ovary	ovary
37	chr22:30698800-30707000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:30699000-30701000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr22:30699000-30701200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr22:30699200-30704200	Weak transcription	Aorta	Aorta
41	chr22:30699200-30706200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr22:30699400-30702400	Enhancers	Left Ventricle	heart
43	chr22:30699400-30703000	Enhancers	Fetal Lung	lung
44	chr22:30699600-30701200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr22:30699600-30702200	Enhancers	Brain Angular Gyrus	brain
46	chr22:30699600-30702400	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr22:30699600-30703200	Enhancers	Brain Anterior Caudate	brain
48	chr22:30699600-30703600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:30699600-30706200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain

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