Variant report

Variant	rs5994644
Chromosome Location	chr22:33352816-33352817
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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs16991613	1.00[EUR][1000 genomes]
rs58068804	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58893951	1.00[EUR][1000 genomes]
rs58952697	1.00[EUR][1000 genomes]
rs59860687	1.00[EUR][1000 genomes]
rs5998666	1.00[EUR][1000 genomes]
rs5998667	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998673	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998675	1.00[EUR][1000 genomes]
rs61499920	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7284962	1.00[EUR][1000 genomes]
rs7287335	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408532	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408546	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408556	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs734315	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73881911	1.00[EUR][1000 genomes]
rs73881913	1.00[EUR][1000 genomes]
rs73881916	1.00[EUR][1000 genomes]
rs8135048	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8135137	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8139676	1.00[EUR][1000 genomes]
rs8139856	1.00[EUR][1000 genomes]
rs8140808	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8140988	1.00[EUR][1000 genomes]
rs8141527	1.00[EUR][1000 genomes]
rs8142539	0.85[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:42 , 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	chr22:33347600-33353000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:33347600-33360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:33347800-33357400	Weak transcription	Brain Anterior Caudate	brain
8	chr22:33348000-33353000	Weak transcription	Lung	lung
9	chr22:33348000-33382400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:33348200-33353000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:33348200-33353000	Weak transcription	Fetal Kidney	kidney
12	chr22:33348200-33353000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr22:33348200-33353200	Weak transcription	Spleen	Spleen
14	chr22:33348200-33353800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr22:33348400-33353000	Weak transcription	Fetal Lung	lung
16	chr22:33348400-33353200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr22:33348600-33353000	Weak transcription	Left Ventricle	heart
18	chr22:33348600-33353200	Weak transcription	Right Atrium	heart
19	chr22:33348800-33353000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr22:33349200-33353200	Weak transcription	Fetal Heart	heart
21	chr22:33349800-33353000	Weak transcription	Adipose Nuclei	Adipose
22	chr22:33350400-33353400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:33351400-33353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:33351400-33353800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr22:33351600-33360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:33352000-33353000	Weak transcription	Fetal Intestine Large	intestine
27	chr22:33352600-33354200	Enhancers	Rectal Smooth Muscle	rectum
28	chr22:33352600-33354400	Enhancers	Fetal Intestine Small	intestine
29	chr22:33352600-33354400	Enhancers	Placenta	Placenta
30	chr22:33352600-33354800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:33352600-33355200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:33352800-33353000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:33352800-33353400	Enhancers	Stomach Smooth Muscle	stomach
34	chr22:33352800-33353800	Enhancers	HepG2	liver
35	chr22:33352800-33354000	Enhancers	Fetal Brain Male	brain
36	chr22:33352800-33354000	Enhancers	Fetal Brain Female	brain
37	chr22:33352800-33354200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr22:33352800-33354200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr22:33352800-33354400	Enhancers	Colon Smooth Muscle	Colon
40	chr22:33352800-33354400	Enhancers	Fetal Muscle Leg	muscle
41	chr22:33352800-33354400	Enhancers	Right Ventricle	heart
42	chr22:33352800-33355400	Enhancers	Fetal Stomach	stomach

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