Variant report

Variant	rs844891
Chromosome Location	chr20:23109883-23109884
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23103723..23106528-chr20:23107935..23111054,5	K562	blood:
2	chr20:23108883..23111876-chr20:23111933..23114373,2	MCF-7	breast:
3	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
4	chr20:23068836..23070645-chr20:23109664..23111369,2	K562	blood:
5	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR4-12	chr20:23109048-23110176	l_2091_chr20:23108768-23110176_testes

No data

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1884657	0.88[EUR][1000 genomes]
rs699796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs699797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs699798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs844813	0.95[EUR][1000 genomes]
rs844820	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs844824	0.95[EUR][1000 genomes]
rs844832	0.95[EUR][1000 genomes]
rs844833	0.95[EUR][1000 genomes]
rs844834	0.92[EUR][1000 genomes]
rs844835	0.92[EUR][1000 genomes]
rs844836	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs844837	0.85[EUR][1000 genomes]
rs844838	0.92[EUR][1000 genomes]
rs844839	0.92[EUR][1000 genomes]
rs844841	0.92[EUR][1000 genomes]
rs844844	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844847	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844849	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844867	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844868	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs844869	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs844872	0.99[EUR][1000 genomes]
rs844873	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs844876	0.85[EUR][1000 genomes]
rs844880	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs844881	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs844884	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844889	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs844892	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs844894	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs844895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs844897	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs844900	0.91[AMR][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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs844891	AL118508.1	cis	Whole Blood	GTEx
rs844891	CD93	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
3	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
4	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr20:23104600-23111600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:23105200-23111000	Enhancers	Fetal Muscle Leg	muscle
7	chr20:23105800-23110000	Enhancers	Primary B cells from cord blood	blood
8	chr20:23105800-23110000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:23105800-23111000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr20:23106000-23112000	Enhancers	Adipose Nuclei	Adipose
11	chr20:23106200-23110200	Weak transcription	Fetal Intestine Small	intestine
12	chr20:23106600-23111000	Enhancers	Spleen	Spleen
13	chr20:23106600-23112600	Weak transcription	Fetal Intestine Large	intestine
14	chr20:23106800-23110800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:23106800-23114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr20:23106800-23116400	Weak transcription	Esophagus	oesophagus
17	chr20:23107200-23110800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr20:23107600-23110000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:23107600-23110000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr20:23107600-23111200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr20:23107600-23113200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr20:23107800-23111000	Enhancers	Dnd41	blood
23	chr20:23108000-23110000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr20:23108000-23111000	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr20:23108200-23110000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr20:23108200-23110600	Weak transcription	Psoas Muscle	Psoas
27	chr20:23108800-23110400	Enhancers	Primary T cells from cord blood	blood
28	chr20:23108800-23111200	Enhancers	Left Ventricle	heart
29	chr20:23109000-23110200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:23109200-23110000	Enhancers	Duodenum Mucosa	Duodenum
32	chr20:23109200-23110000	Enhancers	Fetal Lung	lung
33	chr20:23109200-23110600	Enhancers	Fetal Heart	heart
34	chr20:23109200-23111000	Enhancers	Right Ventricle	heart
35	chr20:23109200-23111400	Enhancers	Lung	lung
36	chr20:23109200-23111800	Enhancers	K562	blood
37	chr20:23109400-23110200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr20:23109400-23110200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr20:23109400-23110200	Enhancers	Liver	Liver
40	chr20:23109400-23110200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr20:23109400-23110400	Enhancers	HUVEC	blood vessel
42	chr20:23109600-23110400	Enhancers	Primary hematopoietic stem cells	blood
43	chr20:23109800-23110000	Enhancers	Colonic Mucosa	Colon
44	chr20:23109800-23110000	Enhancers	Right Atrium	heart
45	chr20:23109800-23110400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:23109800-23110400	Enhancers	Ovary	ovary
47	chr20:23109800-23111000	Weak transcription	Stomach Mucosa	stomach
48	chr20:23109800-23111400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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