Variant report

Variant	rs638224
Chromosome Location	chr15:44202988-44202989
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44202676..44204581-chr15:44827219..44829622,2	K562	blood:
2	chr15:44194479..44197065-chr15:44202126..44203842,2	K562	blood:

Variant related genes	Relation type
ENSG00000179523	Chromatin interaction
ENSG00000104131	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1077421	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs11070414	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1545182	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2016837	1.00[CEU][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2016840	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs2306674	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2412822	1.00[CEU][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2412823	0.90[JPT][hapmap]
rs28548859	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2918945	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918946	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4544217	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs472797	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs530074	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563940	1.00[CEU][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs589649	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs597705	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs678513	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs747714	1.00[CEU][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8042714	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs920339	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
5	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
6	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs638224	ADAL	cis	Esophagus Muscularis	GTEx
rs638224	ADAL	cis	Nerve Tibial	GTEx
rs638224	ADAL	cis	Artery Tibial	GTEx
rs638224	ADAL	cis	Thyroid	GTEx
rs638224	ELL3	Cis_1M	lymphoblastoid	RTeQTL
rs638224	ADAL	cis	Adipose Subcutaneous	GTEx
rs638224	TGM5	cis	Lymphoblastoid	GTEx
rs638224	CKMT1A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44156800-44206400	Weak transcription	Fetal Brain Male	brain
2	chr15:44173600-44208000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:44173800-44211600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:44174200-44211600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr15:44187000-44203600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:44191200-44207400	Weak transcription	Ovary	ovary
7	chr15:44192200-44203600	Weak transcription	Left Ventricle	heart
8	chr15:44192400-44203200	Weak transcription	Right Atrium	heart
9	chr15:44194400-44204000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:44194600-44203000	Weak transcription	HMEC	breast
11	chr15:44194600-44203200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:44194600-44208200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr15:44196400-44203600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr15:44196400-44203800	Weak transcription	Fetal Heart	heart
15	chr15:44196400-44204600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:44196400-44205200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:44196400-44207600	Weak transcription	Gastric	stomach
18	chr15:44196400-44208000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:44196400-44212200	Weak transcription	Fetal Stomach	stomach
20	chr15:44196400-44216800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:44196600-44204600	Weak transcription	Hela-S3	cervix
22	chr15:44196600-44205400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:44196600-44208200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:44196800-44203000	Weak transcription	Osteobl	bone
25	chr15:44196800-44203600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:44198000-44205200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:44198000-44211600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:44198200-44203400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:44198200-44217600	Weak transcription	Brain Germinal Matrix	brain
30	chr15:44198400-44203000	Weak transcription	Brain Anterior Caudate	brain
31	chr15:44198400-44208000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr15:44198600-44203000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr15:44198600-44203000	Weak transcription	Brain Substantia Nigra	brain
34	chr15:44198600-44203200	Weak transcription	NHEK	skin
35	chr15:44198600-44203400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr15:44198600-44205400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr15:44198800-44203200	Weak transcription	Brain Hippocampus Middle	brain
38	chr15:44198800-44203400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:44198800-44207600	Weak transcription	Fetal Brain Female	brain
40	chr15:44200000-44208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:44200800-44203000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:44201200-44208000	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:44201400-44205400	Weak transcription	Adipose Nuclei	Adipose
44	chr15:44201400-44209000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:44201800-44208400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:44202000-44206800	Enhancers	NHDF-Ad	bronchial
47	chr15:44202200-44203200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr15:44202400-44204000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr15:44202400-44204600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:44202400-44206200	Enhancers	Brain Angular Gyrus	brain

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