Variant report

Variant	rs28444847
Chromosome Location	chr15:40356604-40356605
allele	C/T
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:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40355705..40358626-chr15:40451633..40453971,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-2	chr15:40351566-40356802	XLOC_011219
2	lnc-EIF2AK4-2	chr15:40356588-40356802	ENSG00000248508.2
3	lnc-EIF2AK4-2	chr15:40356497-40356802	NONHSAT041799
4	lnc-EIF2AK4-2	chr15:40356497-40356802	NONHSAT041800
5	lnc-EIF2AK4-2	chr15:40356497-40356802	NONHSAT041802

No data

Variant related genes	Relation type
ENSG00000156970	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1010879	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070250	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11631442	1.00[ASN][1000 genomes]
rs16924528	1.00[ASN][1000 genomes]
rs17722502	1.00[ASN][1000 genomes]
rs17722526	1.00[ASN][1000 genomes]
rs17723133	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2412478	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28515996	1.00[ASN][1000 genomes]
rs28736699	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28826672	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35781999	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923235	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4497657	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924410	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4924413	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924417	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62004114	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62004158	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71132133	1.00[ASN][1000 genomes]
rs7183977	1.00[ASN][1000 genomes]
rs72731415	1.00[ASN][1000 genomes]
rs7497289	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749748	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8026641	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs937213	1.00[ASN][1000 genomes]
rs9919974	0.92[AMR][1000 genomes];0.97[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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40345600-40358800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr15:40346000-40367400	Weak transcription	K562	blood
3	chr15:40346200-40372800	Weak transcription	Fetal Kidney	kidney
4	chr15:40347600-40361000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr15:40348000-40361000	Weak transcription	Fetal Intestine Large	intestine
6	chr15:40348200-40357200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr15:40348400-40357000	Weak transcription	Spleen	Spleen
8	chr15:40348400-40358400	Enhancers	Fetal Thymus	thymus
9	chr15:40348400-40361000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:40348600-40361000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:40348600-40365800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:40348800-40360600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr15:40348800-40365400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:40349000-40357400	Weak transcription	Pancreas	Pancrea
15	chr15:40349000-40358600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:40349000-40360600	Weak transcription	Fetal Heart	heart
17	chr15:40351800-40359400	Enhancers	Thymus	Thymus
18	chr15:40352000-40361000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:40353200-40357000	Weak transcription	Dnd41	blood
20	chr15:40353800-40358800	Weak transcription	Fetal Lung	lung
21	chr15:40353800-40361000	Weak transcription	Fetal Intestine Small	intestine
22	chr15:40353800-40361600	Weak transcription	Gastric	stomach
23	chr15:40354200-40357200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:40354600-40357400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr15:40354600-40357400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:40354600-40357400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr15:40354600-40357400	Enhancers	Hela-S3	cervix
28	chr15:40354600-40357600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:40354600-40357600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:40354600-40358200	Enhancers	HSMMtube	muscle
31	chr15:40354800-40357200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr15:40354800-40357400	Enhancers	HSMM	muscle
33	chr15:40354800-40357600	Enhancers	NHDF-Ad	bronchial
34	chr15:40354800-40358000	Enhancers	HMEC	breast
35	chr15:40355000-40357200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr15:40355000-40357400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:40355000-40357400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr15:40355000-40357600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:40355000-40357800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr15:40355000-40359400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:40355200-40357000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr15:40355200-40357200	Enhancers	NHLF	lung
43	chr15:40355200-40357600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:40355200-40359400	Enhancers	NHEK	skin
45	chr15:40355400-40357000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:40355400-40357200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:40355400-40357200	Enhancers	A549	lung
48	chr15:40355400-40357600	Flanking Active TSS	GM12878-XiMat	blood
49	chr15:40355400-40357600	Enhancers	Osteobl	bone
50	chr15:40355600-40356800	Enhancers	Colon Smooth Muscle	Colon

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