Variant report

Variant	rs4441575
Chromosome Location	chr22:33352674-33352675
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11089599	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703516	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703670	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703699	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703817	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704480	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704652	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11704744	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704993	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137559	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137560	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137561	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs137564	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17779789	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042793	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2042794	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081727	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25112	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35463351	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994648	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994649	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998668	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998677	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998679	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998681	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998682	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998685	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73158385	0.85[AMR][1000 genomes]
rs73158393	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73162010	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162024	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162026	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162029	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162032	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8139118	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139584	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:40 , 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	chr22:33343200-33372600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:33343600-33353000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr22:33344200-33360400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:33347600-33352800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:33347600-33353000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:33347600-33360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33347800-33357400	Weak transcription	Brain Anterior Caudate	brain
9	chr22:33348000-33353000	Weak transcription	Lung	lung
10	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:33348200-33352800	Weak transcription	Colon Smooth Muscle	Colon
12	chr22:33348200-33352800	Weak transcription	Right Ventricle	heart
13	chr22:33348200-33352800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr22:33348200-33352800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:33348200-33353000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr22:33348200-33353000	Weak transcription	Fetal Kidney	kidney
17	chr22:33348200-33353000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:33348200-33353200	Weak transcription	Spleen	Spleen
19	chr22:33348200-33353800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr22:33348400-33352800	Weak transcription	Fetal Muscle Leg	muscle
21	chr22:33348400-33353000	Weak transcription	Fetal Lung	lung
22	chr22:33348400-33353200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:33348600-33353000	Weak transcription	Left Ventricle	heart
24	chr22:33348600-33353200	Weak transcription	Right Atrium	heart
25	chr22:33348800-33353000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr22:33349200-33353200	Weak transcription	Fetal Heart	heart
27	chr22:33349800-33353000	Weak transcription	Adipose Nuclei	Adipose
28	chr22:33350400-33353400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr22:33350800-33352800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr22:33350800-33352800	Weak transcription	Fetal Stomach	stomach
31	chr22:33351400-33352800	Weak transcription	Fetal Brain Male	brain
32	chr22:33351400-33353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr22:33351400-33353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr22:33351600-33360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr22:33352000-33353000	Weak transcription	Fetal Intestine Large	intestine
36	chr22:33352600-33354200	Enhancers	Rectal Smooth Muscle	rectum
37	chr22:33352600-33354400	Enhancers	Fetal Intestine Small	intestine
38	chr22:33352600-33354400	Enhancers	Placenta	Placenta
39	chr22:33352600-33354800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr22:33352600-33355200	Strong transcription	HUES48 Cell Line	embryonic stem cell

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