Variant report

Variant	rs73166641
Chromosome Location	chr22:21998280-21998281
allele	A/G
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	chr22:21996385..21999011-chr22:22290359..22293088,2	K562	blood:
2	chr22:21955048..21956824-chr22:21997318..21999777,2	MCF-7	breast:
3	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
4	chr22:21997414..21999019-chr22:22004006..22006421,2	MCF-7	breast:
5	chr22:21983976..21984615-chr22:21997901..21998655,2	K562	blood:
6	chr2:113402159..113404967-chr22:21996703..21998333,2	K562	blood:
7	chr22:21355304..21358222-chr22:21995190..21998500,3	K562	blood:
8	chr22:21996385..21999252-chr22:22290359..22292966,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230513	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3761415	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
4	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
5	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
6	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
8	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
9	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
10	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
12	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
13	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
14	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
15	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
16	esv3456722	chr22:21993383-22019246	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
17	esv3456723	chr22:21993399-22019258	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21997200-21998600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:21997200-22005600	Weak transcription	Small Intestine	intestine
3	chr22:21997400-21998600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:21997400-21998600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr22:21997400-21998600	Transcr. at gene 5' and 3'	K562	blood
6	chr22:21997400-22005000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:21997400-22005200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:21997600-21998600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
9	chr22:21997600-21998600	Genic enhancers	Right Atrium	heart
10	chr22:21997600-21998600	Flanking Active TSS	GM12878-XiMat	blood
11	chr22:21997600-22005400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:21997600-22005600	Weak transcription	Aorta	Aorta
13	chr22:21997800-21998400	Enhancers	Colonic Mucosa	Colon
14	chr22:21997800-21998400	Enhancers	Left Ventricle	heart
15	chr22:21997800-21998400	Active TSS	HSMM	muscle
16	chr22:21997800-21998600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr22:21997800-21998600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:21997800-21998600	Strong transcription	Ovary	ovary
19	chr22:21997800-21998600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr22:21997800-22000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr22:21997800-22001000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:21997800-22001000	Weak transcription	Brain Germinal Matrix	brain
23	chr22:21997800-22001000	Weak transcription	Colon Smooth Muscle	Colon
24	chr22:21997800-22001200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:21997800-22001200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr22:21997800-22003000	Weak transcription	Brain Substantia Nigra	brain
27	chr22:21997800-22003800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:21997800-22004800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr22:21997800-22005200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:21997800-22005200	Weak transcription	Fetal Lung	lung
31	chr22:21997800-22005200	Weak transcription	Psoas Muscle	Psoas
32	chr22:21998000-21998400	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:21998000-21998400	Genic enhancers	Liver	Liver
34	chr22:21998000-21998400	Genic enhancers	Thymus	Thymus
35	chr22:21998000-21998400	Enhancers	HUVEC	blood vessel
36	chr22:21998000-21998400	Enhancers	NH-A	brain
37	chr22:21998000-21998400	Active TSS	NHDF-Ad	bronchial
38	chr22:21998000-21998400	Genic enhancers	NHEK	skin
39	chr22:21998000-21998400	Active TSS	Osteobl	bone
40	chr22:21998000-21998600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:21998000-21998600	Genic enhancers	Primary T cells fromperipheralblood	blood
42	chr22:21998000-21998600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr22:21998000-21998600	Genic enhancers	Placenta	Placenta
44	chr22:21998000-21998600	Genic enhancers	Gastric	stomach
45	chr22:21998000-21998600	Genic enhancers	Right Ventricle	heart
46	chr22:21998000-21998600	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr22:21998000-21998600	Enhancers	HMEC	breast
48	chr22:21998000-21998800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr22:21998000-21998800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr22:21998000-21998800	Strong transcription	Brain Anterior Caudate	brain

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