Variant report

Variant	rs1338945
Chromosome Location	chr20:23099869-23099870
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23099688..23102683-chr20:23112408..23115476,3	K562	blood:
2	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
3	chr20:23098919..23101033-chr20:23112004..23114138,2	K562	blood:

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2404885	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6036310	0.90[CHB][hapmap];0.87[CHD][hapmap];0.82[MEX][hapmap]
rs6076027	0.90[CHB][hapmap];0.82[CHD][hapmap];0.82[MEX][hapmap]
rs6113942	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6132564	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6137830	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6137832	1.00[ASN][1000 genomes]
rs699794	0.84[ASW][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs699795	0.84[ASW][hapmap];0.90[CHB][hapmap];0.87[CHD][hapmap];0.91[LWK][hapmap];0.82[MEX][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs844816	0.90[CHB][hapmap]
rs844819	0.94[CHB][hapmap]
rs844846	0.81[AFR][1000 genomes]
rs844850	0.87[AFR][1000 genomes]
rs844851	0.94[ASW][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes]
rs844852	0.84[CHB][hapmap]
rs844853	0.90[AFR][1000 genomes]
rs844854	0.90[AFR][1000 genomes]
rs844855	0.90[CHB][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs844856	0.90[AFR][1000 genomes]
rs844857	0.89[CHB][hapmap];0.86[YRI][hapmap];0.91[AFR][1000 genomes]
rs844860	0.86[AFR][1000 genomes]
rs844861	0.91[AFR][1000 genomes]
rs844862	0.91[AFR][1000 genomes]
rs844863	0.91[AFR][1000 genomes]
rs844864	0.91[AFR][1000 genomes]
rs844865	0.91[AFR][1000 genomes]
rs844866	0.91[AFR][1000 genomes]
rs844874	0.85[AFR][1000 genomes]
rs844877	0.83[AFR][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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23088000-23100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr20:23091200-23100600	Enhancers	Dnd41	blood
4	chr20:23093000-23103200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:23095200-23100200	Weak transcription	Right Atrium	heart
6	chr20:23095200-23100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr20:23095600-23100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:23096000-23102600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr20:23097200-23100000	Enhancers	Lung	lung
10	chr20:23097200-23100000	Enhancers	GM12878-XiMat	blood
11	chr20:23097200-23100800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr20:23097200-23102000	Enhancers	Fetal Muscle Leg	muscle
13	chr20:23097400-23100000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:23097400-23100000	Weak transcription	Brain Hippocampus Middle	brain
15	chr20:23097400-23100200	Weak transcription	Fetal Thymus	thymus
16	chr20:23097600-23100200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr20:23097600-23101400	Weak transcription	K562	blood
18	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
19	chr20:23097800-23100000	Weak transcription	HUVEC	blood vessel
20	chr20:23097800-23100400	Enhancers	Fetal Muscle Trunk	muscle
21	chr20:23098000-23100200	Weak transcription	NHEK	skin
22	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr20:23098800-23100400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr20:23098800-23100800	Weak transcription	Right Ventricle	heart
25	chr20:23098800-23101600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr20:23098800-23102000	Enhancers	Spleen	Spleen
27	chr20:23099200-23101600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr20:23099200-23102000	Enhancers	Esophagus	oesophagus
29	chr20:23099400-23100200	Enhancers	Primary B cells from cord blood	blood
30	chr20:23099400-23100800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr20:23099600-23100400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr20:23099600-23100600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:23099600-23101400	Enhancers	Adipose Nuclei	Adipose
34	chr20:23099600-23101400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr20:23099600-23101800	Enhancers	Left Ventricle	heart
36	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr20:23099800-23100200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr20:23099800-23101000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr20:23099800-23101400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr20:23099800-23105400	Weak transcription	Gastric	stomach

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