Variant report

Variant	rs73881431
Chromosome Location	chr22:30688107-30688108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30685442-30688222	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30640449..30642621-chr22:30686801..30689268,2	MCF-7	breast:
2	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
3	chr22:30681129..30691076-chr22:30751303..30759078,14	K562	blood:
4	chr22:30686966..30689446-chr22:30691797..30694765,3	K562	blood:
5	chr22:30679348..30681690-chr22:30685966..30688546,2	K562	blood:

No data

Variant related genes	Relation type
GATSL3	TF binding region
ENSG00000099992	Chromatin interaction
ENSG00000268812	Chromatin interaction
ENSG00000248751	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099995	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73881432	0.97[AFR][1000 genomes]
rs73881433	0.89[AFR][1000 genomes]
rs73881434	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers 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	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv914971	chr22:30640308-30691631	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv914972	chr22:30640308-30693581	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	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
9	esv1799458	chr22:30659798-30698035	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv588885	chr22:30661184-30691631	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv522605	chr22:30685076-30691631	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30686000-30688200	Enhancers	Fetal Heart	heart
2	chr22:30686000-30700000	Weak transcription	Fetal Kidney	kidney
3	chr22:30686200-30688200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr22:30686200-30688200	Weak transcription	Aorta	Aorta
5	chr22:30686200-30688200	Enhancers	Brain Angular Gyrus	brain
6	chr22:30686200-30688200	Enhancers	Left Ventricle	heart
7	chr22:30686200-30688200	Enhancers	Pancreas	Pancrea
8	chr22:30686200-30688200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr22:30686200-30688200	Enhancers	HMEC	breast
10	chr22:30686200-30688400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:30686200-30688400	Weak transcription	Ovary	ovary
12	chr22:30686200-30688400	Enhancers	Right Atrium	heart
13	chr22:30686200-30688600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr22:30686200-30688600	Genic enhancers	Placenta	Placenta
15	chr22:30686200-30688800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:30686200-30689400	Weak transcription	Small Intestine	intestine
17	chr22:30686200-30691600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:30686200-30720000	Weak transcription	Fetal Brain Male	brain
19	chr22:30686400-30688600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr22:30686400-30701800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr22:30686600-30688200	Enhancers	NHEK	skin
22	chr22:30686600-30700600	Genic enhancers	Fetal Thymus	thymus
23	chr22:30686800-30688400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:30686800-30690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:30686800-30694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr22:30686800-30701800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr22:30686800-30707200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr22:30687000-30688200	Genic enhancers	Dnd41	blood
29	chr22:30687000-30688400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:30687000-30688400	Genic enhancers	Fetal Muscle Leg	muscle
31	chr22:30687000-30688600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:30687000-30689000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr22:30687000-30695800	Strong transcription	Brain Germinal Matrix	brain
34	chr22:30687000-30699600	Strong transcription	Fetal Brain Female	brain
35	chr22:30687200-30688200	Genic enhancers	Fetal Stomach	stomach
36	chr22:30687200-30688400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr22:30687200-30689000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr22:30687200-30689000	Weak transcription	A549	lung
39	chr22:30687200-30689400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr22:30687200-30689600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:30687200-30697200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr22:30687400-30688200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:30687400-30688200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr22:30687400-30688200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr22:30687400-30688200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:30687400-30688200	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr22:30687400-30688200	Genic enhancers	HSMMtube	muscle
48	chr22:30687400-30688400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:30687400-30688400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr22:30687400-30688800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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