Variant report

Variant	rs534410893
Chromosome Location	chr22:30707316-30707317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr22:30707097-30707996	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr22:30707261-30707853	ECC-1	luminal epithelium:	n/a	chr22:30707367-30707380
3	ESR1	chr22:30707275-30707863	ECC-1	luminal epithelium:	n/a	n/a
4	NFIC	chr22:30707090-30707997	ECC-1	luminal epithelium:	n/a	chr22:30707676-30707704
5	EP300	chr22:30707150-30707966	ECC-1	luminal epithelium:	n/a	chr22:30707367-30707380
6	NFIC	chr22:30707224-30707817	SK-N-SH	brain:	n/a	chr22:30707676-30707704
7	TCF12	chr22:30707122-30707938	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr22:30707023-30707969	ECC-1	luminal epithelium:	n/a	chr22:30707676-30707704
9	TCF12	chr22:30707182-30707876	SK-N-SH	brain:	n/a	n/a
10	WRNIP1	chr22:30707156-30707382	GM12878	blood:	n/a	n/a
11	ESR1	chr22:30707264-30707819	ECC-1	luminal epithelium:	n/a	n/a
12	ESR1	chr22:30707287-30707750	ECC-1	luminal epithelium:	n/a	n/a
13	RAD21	chr22:30707315-30707868	ECC-1	luminal epithelium:	n/a	n/a
14	TEAD4	chr22:30707263-30707842	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr22:30707293-30707703	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr22:30707234-30707862	ECC-1	luminal epithelium:	n/a	n/a
17	RCOR1	chr22:30706029-30708758	IMR90	lung:	n/a	n/a
18	NFIC	chr22:30707260-30707840	SK-N-SH	brain:	n/a	chr22:30707676-30707704
19	YY1	chr22:30707144-30707874	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr22:30706813-30707957	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:30706784..30711096-chr22:30720189..30724317,4	K562	blood:
2	chr22:30704378..30708150-chr22:30709982..30712337,3	MCF-7	breast:
3	chr22:30686895..30687732-chr22:30707081..30707981,2	MCF-7	breast:
4	chr22:30697815..30699936-chr22:30705927..30707445,2	K562	blood:
5	chr22:30684159..30687302-chr22:30706702..30709797,3	MCF-7	breast:
6	chr22:30705519..30709851-chr22:30719624..30722955,4	MCF-7	breast:
7	chr22:30647129..30650015-chr22:30704235..30707328,3	MCF-7	breast:
8	chr22:30700419..30704978-chr22:30706573..30709659,6	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D10A	TF binding region
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	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

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	chr22:30697400-30712200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr22:30699600-30715600	Weak transcription	Fetal Brain Female	brain
4	chr22:30699800-30710000	Weak transcription	HepG2	liver
5	chr22:30699800-30711600	Enhancers	Stomach Mucosa	stomach
6	chr22:30700000-30710000	Enhancers	HMEC	breast
7	chr22:30700200-30712000	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr22:30700200-30712600	Enhancers	Primary hematopoietic stem cells	blood
9	chr22:30700400-30710000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr22:30700400-30714400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:30700600-30711200	Enhancers	Placenta	Placenta
12	chr22:30701400-30709200	Enhancers	Fetal Kidney	kidney
13	chr22:30702000-30707400	Enhancers	NHEK	skin
14	chr22:30702800-30709200	Enhancers	Right Atrium	heart
15	chr22:30702800-30709400	Enhancers	Pancreas	Pancrea
16	chr22:30702800-30710200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:30702800-30712400	Enhancers	Left Ventricle	heart
18	chr22:30702800-30713000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr22:30702800-30713200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr22:30702800-30714800	Enhancers	Spleen	Spleen
21	chr22:30703000-30709800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30703200-30709400	Enhancers	Esophagus	oesophagus
23	chr22:30703200-30710400	Enhancers	Primary B cells from peripheral blood	blood
24	chr22:30703200-30711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:30703400-30710000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr22:30703400-30710400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:30703600-30710000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr22:30703600-30710400	Enhancers	Primary B cells from cord blood	blood
29	chr22:30704000-30708600	Enhancers	Lung	lung
30	chr22:30704000-30708800	Enhancers	Right Ventricle	heart
31	chr22:30704200-30709200	Enhancers	NHLF	lung
32	chr22:30704200-30709400	Enhancers	Gastric	stomach
33	chr22:30704200-30709400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr22:30704600-30708400	Enhancers	Psoas Muscle	Psoas
35	chr22:30704600-30709200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr22:30704600-30709200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr22:30704600-30709400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:30704600-30709600	Enhancers	Placenta Amnion	Placenta Amnion
39	chr22:30704800-30709400	Enhancers	Brain Anterior Caudate	brain
40	chr22:30704800-30711200	Enhancers	Small Intestine	intestine
41	chr22:30705000-30709000	Enhancers	Brain Hippocampus Middle	brain
42	chr22:30705000-30720400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr22:30705600-30707600	Flanking Active TSS	GM12878-XiMat	blood
44	chr22:30705600-30707800	Genic enhancers	Fetal Intestine Small	intestine
45	chr22:30705600-30708000	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr22:30705600-30708000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr22:30705600-30709400	Enhancers	Ovary	ovary
48	chr22:30705800-30707600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr22:30705800-30707800	Enhancers	Fetal Lung	lung
50	chr22:30705800-30708200	Enhancers	Aorta	Aorta

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