Variant report

Variant	rs2025703
Chromosome Location	chr13:48569893-48569894
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48568085..48572126-chr13:48572492..48575241,5	K562	blood:
2	chr13:48556085..48558397-chr13:48568494..48570319,2	K562	blood:

Variant related genes	Relation type
ENSG00000136143	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10397	0.87[EUR][1000 genomes]
rs11617714	0.82[ASN][1000 genomes]
rs11617894	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11618304	0.82[ASN][1000 genomes]
rs12561235	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13243	0.87[EUR][1000 genomes]
rs17071169	0.82[ASN][1000 genomes]
rs41284209	0.82[ASN][1000 genomes]
rs4477588	0.83[EUR][1000 genomes]
rs45465203	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56097393	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56385117	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7324919	0.87[EUR][1000 genomes]
rs7326861	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7335662	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7337521	0.82[ASN][1000 genomes]
rs7981492	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9562784	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9562785	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9562786	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9562790	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9562791	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9562794	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9562795	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9562797	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9562798	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567956	0.86[EUR][1000 genomes]
rs9567957	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567966	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567967	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567970	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567971	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9567974	0.82[ASN][1000 genomes]
rs9567975	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567977	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567978	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567981	0.82[ASN][1000 genomes]
rs9567982	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567983	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567985	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9567990	0.82[ASN][1000 genomes]
rs9634678	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
3	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
4	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
5	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix
8	chr13:48539600-48571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr13:48540000-48574200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr13:48543000-48574400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr13:48546600-48574400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:48546600-48574800	Weak transcription	Spleen	Spleen
13	chr13:48546800-48571600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:48548000-48574200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr13:48548800-48574400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:48550800-48574200	Weak transcription	Ovary	ovary
17	chr13:48551000-48573800	Weak transcription	Fetal Heart	heart
18	chr13:48551000-48574400	Weak transcription	HSMMtube	muscle
19	chr13:48552000-48574000	Weak transcription	A549	lung
20	chr13:48557800-48571800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr13:48557800-48572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr13:48558000-48570800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr13:48558000-48573200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:48558600-48571800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr13:48559000-48571000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr13:48559200-48570000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:48559600-48571200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr13:48559800-48571600	Weak transcription	Brain Substantia Nigra	brain
29	chr13:48559800-48574200	Weak transcription	Brain Anterior Caudate	brain
30	chr13:48560000-48574000	Weak transcription	Fetal Kidney	kidney
31	chr13:48560800-48573400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr13:48560800-48574600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:48561000-48572600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:48561200-48573200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr13:48561200-48574200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:48561400-48573000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr13:48561600-48574200	Weak transcription	Osteobl	bone
38	chr13:48562600-48573000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr13:48563400-48570800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr13:48563800-48574200	Weak transcription	Fetal Brain Male	brain
41	chr13:48564400-48572400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr13:48564600-48571800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:48564600-48572000	Strong transcription	Dnd41	blood
44	chr13:48564800-48570000	Strong transcription	Placenta	Placenta
45	chr13:48565000-48570800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr13:48565400-48574800	Weak transcription	Gastric	stomach
47	chr13:48565600-48571600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr13:48565600-48571600	Weak transcription	Brain Hippocampus Middle	brain
49	chr13:48565600-48571600	Weak transcription	Right Atrium	heart
50	chr13:48565600-48574000	Weak transcription	Rectal Smooth Muscle	rectum

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