Variant report

Variant	rs187082073
Chromosome Location	chr22:30725102-30725103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 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	chr22:30724602-30725113	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:30723840..30727994-chr22:30728827..30733130,4	K562	blood:
2	chr22:30720496..30722809-chr22:30723809..30726893,3	MCF-7	breast:
3	chr22:30681692..30688141-chr22:30720232..30725114,19	MCF-7	breast:
4	chr22:30679226..30682000-chr22:30723679..30728534,4	K562	blood:
5	chr22:30656777..30659153-chr22:30723216..30725905,2	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10A	TF binding region
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	chr22:30723400-30725200	Enhancers	HSMMtube	muscle
3	chr22:30723400-30726400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:30723400-30726400	Weak transcription	Left Ventricle	heart
5	chr22:30723400-30726400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:30723400-30726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:30723400-30726600	Weak transcription	Brain Substantia Nigra	brain
8	chr22:30723400-30726600	Weak transcription	Gastric	stomach
9	chr22:30723400-30726600	Weak transcription	Lung	lung
10	chr22:30723400-30727400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:30723400-30728400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:30723400-30728600	Weak transcription	Esophagus	oesophagus
13	chr22:30723400-30728600	Weak transcription	Right Ventricle	heart
14	chr22:30723400-30728800	Weak transcription	Ovary	ovary
15	chr22:30723400-30729400	Weak transcription	Psoas Muscle	Psoas
16	chr22:30723400-30732600	Weak transcription	Right Atrium	heart
17	chr22:30723600-30725200	Weak transcription	Fetal Muscle Leg	muscle
18	chr22:30723600-30725200	Enhancers	Placenta Amnion	Placenta Amnion
19	chr22:30723600-30725400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:30723600-30725400	Weak transcription	Fetal Stomach	stomach
21	chr22:30723600-30725600	Enhancers	Placenta	Placenta
22	chr22:30723600-30725800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:30723600-30726400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr22:30723600-30726400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr22:30723600-30726400	Weak transcription	Adipose Nuclei	Adipose
26	chr22:30723600-30726600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr22:30723600-30726600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:30723600-30726600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr22:30723600-30726600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr22:30723600-30726600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr22:30723600-30726600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr22:30723600-30726600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr22:30723600-30726600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:30723600-30726600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:30723600-30726600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:30723600-30726600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:30723600-30726600	Weak transcription	Spleen	Spleen
38	chr22:30723600-30726800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr22:30723600-30728200	Weak transcription	NHLF	lung
40	chr22:30723600-30728400	Weak transcription	Brain Hippocampus Middle	brain
41	chr22:30723600-30728400	Weak transcription	Colon Smooth Muscle	Colon
42	chr22:30723600-30728600	Weak transcription	Aorta	Aorta
43	chr22:30723600-30729400	Weak transcription	Fetal Brain Male	brain
44	chr22:30723600-30730400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr22:30723800-30725600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr22:30723800-30725800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:30723800-30726400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:30723800-30726400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr22:30723800-30726400	Weak transcription	Fetal Brain Female	brain

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