Variant report

Variant	rs12902983
Chromosome Location	chr15:72642100-72642101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:72641980-72642130	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72640931..72642658-chr15:72644358..72646802,2	K562	blood:
2	chr15:72637166..72638686-chr15:72641147..72643424,2	K562	blood:
3	chr15:72633286..72635999-chr15:72640921..72642721,3	K562	blood:

Variant related genes	Relation type
HEXA	TF binding region
ENSG00000213614	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10220850	0.90[EUR][1000 genomes]
rs12900465	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12904334	1.00[AMR][1000 genomes]
rs12904378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12904667	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12907707	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12908883	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914829	1.00[AMR][1000 genomes]
rs2912203	1.00[AMR][1000 genomes]
rs2912204	1.00[AMR][1000 genomes]
rs2912215	1.00[AMR][1000 genomes]
rs2912222	1.00[AMR][1000 genomes]
rs2912224	1.00[AMR][1000 genomes]
rs2912225	1.00[AMR][1000 genomes]
rs2959916	1.00[AMR][1000 genomes]
rs2959917	1.00[AMR][1000 genomes]
rs2959918	1.00[AMR][1000 genomes]
rs2959919	1.00[AMR][1000 genomes]
rs2959923	1.00[AMR][1000 genomes]
rs2959924	1.00[AMR][1000 genomes]
rs2959927	1.00[AMR][1000 genomes]
rs2959929	1.00[AMR][1000 genomes]
rs2959931	1.00[AMR][1000 genomes]
rs33999922	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34115124	0.89[EUR][1000 genomes]
rs34511502	1.00[AMR][1000 genomes]
rs34607939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35202897	0.89[EUR][1000 genomes]
rs35457238	1.00[AMR][1000 genomes]
rs35511514	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71395074	0.89[EUR][1000 genomes]
rs71397231	0.89[EUR][1000 genomes]
rs71397232	0.89[EUR][1000 genomes]
rs71397233	0.89[EUR][1000 genomes]
rs71397236	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71411063	1.00[AMR][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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72613200-72651000	Weak transcription	Stomach Mucosa	stomach
2	chr15:72613200-72666800	Weak transcription	Fetal Heart	heart
3	chr15:72613400-72667600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:72614000-72642400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:72627800-72650400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:72629200-72649600	Strong transcription	Left Ventricle	heart
7	chr15:72629800-72649200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:72630000-72649200	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:72630200-72656200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:72632400-72650000	Weak transcription	Right Atrium	heart
11	chr15:72632600-72649600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:72632800-72649400	Strong transcription	Adipose Nuclei	Adipose
13	chr15:72633000-72642800	Weak transcription	HMEC	breast
14	chr15:72633000-72650400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr15:72633000-72651200	Strong transcription	Thymus	Thymus
16	chr15:72633000-72652000	Strong transcription	Fetal Stomach	stomach
17	chr15:72633400-72649400	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr15:72633400-72651600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:72633600-72645800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:72633600-72648200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:72633600-72648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:72633600-72649200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:72633600-72649200	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr15:72633600-72649400	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:72633600-72649400	Strong transcription	Lung	lung
26	chr15:72633600-72650000	Strong transcription	Brain Cingulate Gyrus	brain
27	chr15:72633600-72650400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:72633800-72645400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr15:72633800-72649400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr15:72633800-72651200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr15:72634000-72644200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:72634000-72649200	Strong transcription	Fetal Brain Female	brain
33	chr15:72634000-72649400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr15:72634000-72649400	Strong transcription	Spleen	Spleen
35	chr15:72634000-72649800	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:72634000-72650000	Strong transcription	Liver	Liver
37	chr15:72634000-72650800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr15:72634200-72645200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:72634200-72649200	Strong transcription	Placenta	Placenta
40	chr15:72634200-72649400	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:72634200-72649400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:72634400-72645200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:72634400-72645400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:72634400-72650400	Strong transcription	Aorta	Aorta
45	chr15:72634400-72650600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr15:72634600-72644600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:72634600-72645400	Strong transcription	Muscle Satellite Cultured Cells	--
48	chr15:72634600-72650600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr15:72634600-72667400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr15:72634800-72649800	Strong transcription	Brain Germinal Matrix	brain

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