Variant report

Variant	rs544295718
Chromosome Location	chr22:29653830-29653831
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:2)
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	POLR2A	chr22:29653510-29654782	GM12891	blood:	n/a	n/a
2	POLR2A	chr22:29653767-29654134	MCF-7	breast:	n/a	n/a
3	POLR2A	chr22:29653621-29654814	GM12892	blood:	n/a	n/a
4	POLR2A	chr22:29653724-29654185	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr22:29653602-29657482	GM12891	blood:	n/a	n/a
6	POLR2A	chr22:29653527-29654524	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr22:29653774-29654178	HepG2	liver:	n/a	n/a
8	POLR2A	chr22:29652410-29657525	GM12878	blood:	n/a	n/a
9	POLR2A	chr22:29653588-29656022	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr22:29653728-29654407	GM12891	blood:	n/a	n/a
11	POLR2A	chr22:29653421-29654121	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr22:29653683-29657301	GM12878	blood:	n/a	n/a
13	POLR2A	chr22:29653791-29654045	GM12878	blood:	n/a	n/a
14	POLR2A	chr22:29653655-29655844	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr22:29653526-29658915	K562	blood:	n/a	n/a
16	POLR2A	chr22:29653662-29653963	K562	blood:	n/a	n/a
17	POLR2A	chr22:29653540-29657993	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr22:29653559-29657623	GM12892	blood:	n/a	n/a
19	POLR2A	chr22:29653486-29657933	GM12892	blood:	n/a	n/a
20	POLR2A	chr22:29653561-29653948	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29638508..29640700-chr22:29653710..29656559,2	K562	blood:
2	chr22:29609413..29611410-chr22:29651943..29654586,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237015	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv829154	chr22:29617485-29724001	Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Active TSS 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
4	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv3428528	chr22:29653712-29654071	Weak transcription Strong transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29622000-29655200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr22:29622000-29655800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr22:29622400-29656600	Weak transcription	Colonic Mucosa	Colon
4	chr22:29629000-29659400	Weak transcription	Brain Anterior Caudate	brain
5	chr22:29629600-29655400	Weak transcription	Liver	Liver
6	chr22:29629600-29655400	Weak transcription	Gastric	stomach
7	chr22:29633600-29654400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr22:29634600-29655200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:29638400-29655200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:29639000-29655200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:29639400-29654200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:29639800-29656400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr22:29641600-29655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr22:29641600-29659800	Weak transcription	Ovary	ovary
15	chr22:29641600-29661800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:29641800-29657800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:29642000-29659600	Weak transcription	Colon Smooth Muscle	Colon
18	chr22:29642200-29659800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:29642600-29662400	Strong transcription	Fetal Intestine Small	intestine
20	chr22:29643600-29660400	Weak transcription	Fetal Kidney	kidney
21	chr22:29644600-29659800	Weak transcription	Brain Substantia Nigra	brain
22	chr22:29647400-29662000	Strong transcription	Fetal Stomach	stomach
23	chr22:29648400-29657400	Strong transcription	Fetal Intestine Large	intestine
24	chr22:29648800-29655400	Weak transcription	Brain Hippocampus Middle	brain
25	chr22:29649000-29654000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:29649000-29662400	Weak transcription	Fetal Brain Male	brain
27	chr22:29649800-29655200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:29649800-29656000	Strong transcription	Spleen	Spleen
29	chr22:29649800-29657400	Strong transcription	Fetal Brain Female	brain
30	chr22:29650000-29655000	Weak transcription	Esophagus	oesophagus
31	chr22:29650200-29654600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr22:29650200-29655400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:29650200-29655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:29650200-29657200	Strong transcription	Brain Germinal Matrix	brain
35	chr22:29650200-29662600	Weak transcription	Stomach Mucosa	stomach
36	chr22:29650400-29655200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr22:29650400-29655600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:29650600-29655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:29650600-29659800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr22:29650600-29660000	Weak transcription	Primary T cells from cord blood	blood
41	chr22:29650600-29660200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:29650800-29659800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:29651000-29659600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr22:29651000-29660000	Weak transcription	HepG2	liver
45	chr22:29651200-29654000	Weak transcription	Fetal Thymus	thymus
46	chr22:29651200-29654200	Weak transcription	Placenta	Placenta
47	chr22:29651200-29654800	Weak transcription	Thymus	Thymus
48	chr22:29651600-29654200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:29651800-29654400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:29651800-29655000	Weak transcription	Lung	lung

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