Variant report

Variant	rs241760
Chromosome Location	chr22:33346615-33346616
allele	A/C
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	GATA2	chr22:33345790-33346788	SH-SY5Y	brain:	n/a	chr22:33346670-33346678

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32846948-32860159..22:33339333-33353583	K562	blood:

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

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs133924	0.84[ASN][1000 genomes]
rs133926	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs133927	0.85[ASN][1000 genomes]
rs133929	0.83[ASN][1000 genomes]
rs133931	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs133934	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs133937	0.92[CHB][hapmap];0.93[JPT][hapmap]
rs133938	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs133941	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1365837	0.83[ASN][1000 genomes]
rs137552	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs241707	1.00[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241711	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241712	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241714	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241715	0.88[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241717	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs241721	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs241722	0.85[ASN][1000 genomes]
rs241725	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs241727	0.93[CHB][hapmap]
rs241729	0.93[CHB][hapmap]
rs241731	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs241732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs241756	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241757	0.85[ASN][1000 genomes]
rs241758	0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs241759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs241763	0.80[ASN][1000 genomes]
rs241764	0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs241766	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs241767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4518061	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs470004	0.80[CHB][hapmap];0.88[JPT][hapmap]
rs5754350	0.84[ASN][1000 genomes]
rs5754377	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs5998684	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71187221	0.89[ASN][1000 genomes]
rs9609676	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:48 , 50 per page) page: 1

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	chr22:33343000-33347000	Enhancers	Fetal Intestine Small	intestine
4	chr22:33343200-33347400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr22:33343600-33346800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr22:33345000-33349200	Enhancers	Fetal Heart	heart
10	chr22:33345000-33350800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:33345200-33348200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33345200-33348400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:33345400-33347400	Enhancers	Fetal Intestine Large	intestine
14	chr22:33345400-33348400	Enhancers	Fetal Muscle Leg	muscle
15	chr22:33345400-33348600	Enhancers	Placenta	Placenta
16	chr22:33345400-33348600	Enhancers	Left Ventricle	heart
17	chr22:33345600-33346800	Enhancers	HepG2	liver
18	chr22:33345600-33346800	Enhancers	K562	blood
19	chr22:33345600-33348400	Enhancers	Fetal Lung	lung
20	chr22:33345600-33348600	Enhancers	Right Atrium	heart
21	chr22:33345800-33347600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:33345800-33347800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:33345800-33348200	Enhancers	Right Ventricle	heart
24	chr22:33345800-33348200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr22:33345800-33349000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr22:33346000-33346800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr22:33346000-33347000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr22:33346000-33348400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:33346000-33348400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:33346000-33349000	Enhancers	Fetal Stomach	stomach
31	chr22:33346200-33346800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:33346200-33347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:33346200-33347200	Weak transcription	Lung	lung
34	chr22:33346200-33347200	Weak transcription	Ovary	ovary
35	chr22:33346200-33347800	Enhancers	Adipose Nuclei	Adipose
36	chr22:33346200-33348200	Enhancers	Brain Substantia Nigra	brain
37	chr22:33346200-33348200	Enhancers	NHDF-Ad	bronchial
38	chr22:33346200-33348400	Enhancers	Primary hematopoietic stem cells	blood
39	chr22:33346400-33347600	Weak transcription	HSMMtube	muscle
40	chr22:33346400-33348200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:33346400-33348200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr22:33346600-33347000	Weak transcription	Pancreas	Pancrea
43	chr22:33346600-33347000	Weak transcription	Spleen	Spleen
44	chr22:33346600-33347400	Weak transcription	Fetal Kidney	kidney
45	chr22:33346600-33347800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr22:33346600-33348000	Enhancers	Psoas Muscle	Psoas
47	chr22:33346600-33348200	Enhancers	Colon Smooth Muscle	Colon
48	chr22:33346600-33348200	Enhancers	Duodenum Mucosa	Duodenum

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