Variant report

Variant	rs73162016
Chromosome Location	chr22:33347622-33347623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr22:33347182-33347794	SH-SY5Y	brain:	n/a	chr22:33347597-33347607 chr22:33347590-33347611 chr22:33347597-33347604 chr22:33347597-33347604 chr22:33347595-33347604 chr22:33347597-33347604
2	GATA2	chr22:33347202-33348054	SH-SY5Y	brain:	n/a	chr22:33347597-33347607 chr22:33347590-33347611 chr22:33347597-33347604 chr22:33347597-33347604 chr22:33347595-33347604 chr22:33347597-33347604
3	EP300	chr22:33347097-33348431	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr22:33346885-33348275	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33339333-33353583	K562	blood:
2	chr22:32924702..32925549-chr22:33347301..33347897,2	K562	blood:

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000185666	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs137551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs137553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs183588	1.00[EUR][1000 genomes]
rs241875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55676703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55718026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55756736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55793030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56070943	1.00[EUR][1000 genomes]
rs56151696	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56220039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56235324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249635	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56373657	1.00[AMR][1000 genomes]
rs56377603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73158330	1.00[EUR][1000 genomes]
rs73158350	1.00[EUR][1000 genomes]
rs73162009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162048	1.00[AMR][1000 genomes]
rs73162050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162072	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162074	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162077	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162088	1.00[EUR][1000 genomes]
rs73162092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162096	1.00[AMR][1000 genomes]
rs73162097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73162098	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73164309	1.00[AMR][1000 genomes]
rs73164336	1.00[EUR][1000 genomes]
rs80694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33314000-33380800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr22:33341600-33349600	Weak transcription	Fetal Brain Male	brain
3	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr22:33345000-33349200	Enhancers	Fetal Heart	heart
7	chr22:33345000-33350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr22:33345200-33348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:33345200-33348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:33345400-33348400	Enhancers	Fetal Muscle Leg	muscle
11	chr22:33345400-33348600	Enhancers	Placenta	Placenta
12	chr22:33345400-33348600	Enhancers	Left Ventricle	heart
13	chr22:33345600-33348400	Enhancers	Fetal Lung	lung
14	chr22:33345600-33348600	Enhancers	Right Atrium	heart
15	chr22:33345800-33347800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:33345800-33348200	Enhancers	Right Ventricle	heart
17	chr22:33345800-33348200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr22:33345800-33349000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr22:33346000-33348400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:33346000-33348400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr22:33346000-33349000	Enhancers	Fetal Stomach	stomach
22	chr22:33346200-33347800	Enhancers	Adipose Nuclei	Adipose
23	chr22:33346200-33348200	Enhancers	Brain Substantia Nigra	brain
24	chr22:33346200-33348200	Enhancers	NHDF-Ad	bronchial
25	chr22:33346200-33348400	Enhancers	Primary hematopoietic stem cells	blood
26	chr22:33346400-33348200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:33346400-33348200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr22:33346600-33347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:33346600-33348000	Enhancers	Psoas Muscle	Psoas
30	chr22:33346600-33348200	Enhancers	Colon Smooth Muscle	Colon
31	chr22:33346600-33348200	Enhancers	Duodenum Mucosa	Duodenum
32	chr22:33346800-33347800	Enhancers	Brain Anterior Caudate	brain
33	chr22:33346800-33348200	Enhancers	Brain Hippocampus Middle	brain
34	chr22:33346800-33348200	Enhancers	Rectal Smooth Muscle	rectum
35	chr22:33346800-33348200	Enhancers	Stomach Smooth Muscle	stomach
36	chr22:33347000-33347800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
37	chr22:33347000-33348200	Enhancers	Spleen	Spleen
38	chr22:33347200-33347800	Enhancers	Ovary	ovary
39	chr22:33347200-33347800	Enhancers	Small Intestine	intestine
40	chr22:33347200-33348000	Enhancers	Lung	lung
41	chr22:33347200-33348200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr22:33347200-33348800	Enhancers	Fetal Muscle Trunk	muscle
43	chr22:33347400-33348200	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr22:33347400-33348200	Enhancers	Fetal Kidney	kidney
45	chr22:33347400-33348600	Weak transcription	Fetal Intestine Large	intestine
46	chr22:33347600-33348000	Enhancers	HSMMtube	muscle
47	chr22:33347600-33348200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr22:33347600-33348200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr22:33347600-33352600	Weak transcription	Fetal Intestine Small	intestine
50	chr22:33347600-33352800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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