Variant report

Variant	rs192342208
Chromosome Location	chr22:30724409-30724410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30724357-30725104	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr22:30724273-30724972	Hela-S3	cervix:	n/a	n/a
3	ARID3A	chr22:30723854-30724440	K562	blood:	n/a	n/a
4	RCOR1	chr22:30723796-30724446	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30723840..30727994-chr22:30728827..30733130,4	K562	blood:
2	chr22:30720936..30724991-chr22:30750350..30754449,10	MCF-7	breast:
3	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
4	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
5	chr22:30692473..30695111-chr22:30722676..30724964,2	K562	blood:
6	chr22:30722829..30724775-chr22:30819297..30822266,2	MCF-7	breast:
7	chr22:30683778..30684535-chr22:30723476..30724412,5	MCF-7	breast:
8	chr22:30683831..30686273-chr22:30722432..30724567,2	K562	blood:
9	chr22:30683311..30684720-chr22:30723282..30724915,12	MCF-7	breast:
10	chr22:30722860..30724693-chr22:30742029..30744821,2	K562	blood:
11	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
12	chr22:30723090..30724854-chr22:30725952..30728416,2	K562	blood:
13	chr22:30722006..30725049-chr22:30749886..30754508,5	K562	blood:
14	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
15	chr22:30656777..30659153-chr22:30723216..30725905,2	MCF-7	breast:
16	chr22:30701046..30703997-chr22:30721368..30724437,4	K562	blood:

No data

Variant related genes	Relation type
TBC1D10A	TF binding region
ENSG00000099992	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
5	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
6	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
7	nsv1064350	chr22:30724148-30742125	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	n/a
8	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30723000-30728400	Weak transcription	Small Intestine	intestine
2	chr22:30723400-30725000	Enhancers	HSMM	muscle
3	chr22:30723400-30725200	Enhancers	HSMMtube	muscle
4	chr22:30723400-30726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:30723400-30726400	Weak transcription	Left Ventricle	heart
6	chr22:30723400-30726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:30723400-30726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:30723400-30726600	Weak transcription	Brain Substantia Nigra	brain
9	chr22:30723400-30726600	Weak transcription	Gastric	stomach
10	chr22:30723400-30726600	Weak transcription	Lung	lung
11	chr22:30723400-30727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr22:30723400-30728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:30723400-30728600	Weak transcription	Esophagus	oesophagus
14	chr22:30723400-30728600	Weak transcription	Right Ventricle	heart
15	chr22:30723400-30728800	Weak transcription	Ovary	ovary
16	chr22:30723400-30729400	Weak transcription	Psoas Muscle	Psoas
17	chr22:30723400-30732600	Weak transcription	Right Atrium	heart
18	chr22:30723600-30724600	Enhancers	Fetal Intestine Large	intestine
19	chr22:30723600-30724600	Enhancers	Fetal Intestine Small	intestine
20	chr22:30723600-30724600	Weak transcription	Osteobl	bone
21	chr22:30723600-30724800	Enhancers	Stomach Mucosa	stomach
22	chr22:30723600-30724800	Enhancers	Stomach Smooth Muscle	stomach
23	chr22:30723600-30725000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr22:30723600-30725000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:30723600-30725200	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:30723600-30725200	Enhancers	Placenta Amnion	Placenta Amnion
27	chr22:30723600-30725400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr22:30723600-30725400	Weak transcription	Fetal Stomach	stomach
29	chr22:30723600-30725600	Enhancers	Placenta	Placenta
30	chr22:30723600-30725800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:30723600-30726400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:30723600-30726400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr22:30723600-30726400	Weak transcription	Adipose Nuclei	Adipose
34	chr22:30723600-30726600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr22:30723600-30726600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:30723600-30726600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:30723600-30726600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:30723600-30726600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr22:30723600-30726600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr22:30723600-30726600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr22:30723600-30726600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr22:30723600-30726600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr22:30723600-30726600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:30723600-30726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:30723600-30726600	Weak transcription	Spleen	Spleen
46	chr22:30723600-30726800	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr22:30723600-30728200	Weak transcription	NHLF	lung
48	chr22:30723600-30728400	Weak transcription	Brain Hippocampus Middle	brain
49	chr22:30723600-30728400	Weak transcription	Colon Smooth Muscle	Colon
50	chr22:30723600-30728600	Weak transcription	Aorta	Aorta

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