Variant report

Variant	rs5997854
Chromosome Location	chr22:31445399-31445400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31437736..31441147-chr22:31443914..31447179,4	K562	blood:
2	chr22:31445377..31447360-chr22:31483123..31485957,2	MCF-7	breast:
3	chr22:31445325..31447022-chr22:31475452..31477796,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183963	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11703526	1.00[YRI][hapmap]
rs11913790	1.00[ASN][1000 genomes]
rs1990125	0.85[EUR][1000 genomes]
rs2413016	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[TSI][hapmap];0.93[EUR][1000 genomes]
rs41279973	1.00[ASN][1000 genomes]
rs4820933	0.94[EUR][1000 genomes]
rs5753431	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753446	1.00[ASW][hapmap];0.95[CEU][hapmap];0.85[TSI][hapmap];0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs5753449	0.89[EUR][1000 genomes]
rs714023	1.00[ASN][1000 genomes]
rs7285842	1.00[ASN][1000 genomes]
rs7285906	1.00[ASN][1000 genomes]
rs9621105	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv966103	chr22:31410201-31452981	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv524366	chr22:31440703-31480069	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs5997854	SLC35E4	cis	cerebellum	SCAN
rs5997854	C22orf42	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31433800-31446000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr22:31440000-31453200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:31440200-31447400	Enhancers	Adipose Nuclei	Adipose
4	chr22:31440600-31451000	Weak transcription	Osteobl	bone
5	chr22:31441600-31455000	Enhancers	Fetal Stomach	stomach
6	chr22:31443000-31445800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:31443000-31449800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:31443000-31450000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr22:31443000-31450200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:31443000-31450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr22:31443000-31450800	Weak transcription	Colon Smooth Muscle	Colon
12	chr22:31443000-31451000	Weak transcription	A549	lung
13	chr22:31443200-31450800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:31443200-31451000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr22:31443200-31451000	Weak transcription	Hela-S3	cervix
16	chr22:31443400-31445400	Weak transcription	Fetal Lung	lung
17	chr22:31443400-31445800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:31443400-31451200	Weak transcription	Right Ventricle	heart
19	chr22:31443600-31445400	Weak transcription	Lung	lung
20	chr22:31443600-31445600	Weak transcription	HepG2	liver
21	chr22:31443600-31446000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr22:31443600-31451000	Weak transcription	Ovary	ovary
23	chr22:31443600-31455400	Weak transcription	K562	blood
24	chr22:31444200-31446400	Enhancers	Left Ventricle	heart
25	chr22:31444400-31446200	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr22:31444400-31446400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:31444600-31446200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:31444600-31447400	Enhancers	Fetal Muscle Leg	muscle
29	chr22:31444800-31447000	Enhancers	Fetal Muscle Trunk	muscle
30	chr22:31445000-31446400	Enhancers	HUVEC	blood vessel
31	chr22:31445000-31451000	Weak transcription	Right Atrium	heart
32	chr22:31445200-31445600	Weak transcription	Spleen	Spleen
33	chr22:31445200-31447200	Enhancers	Placenta	Placenta

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