Variant report

Variant	rs13406769
Chromosome Location	chr2:231318610-231318611
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231279705..231282048-chr2:231316333..231318680,2	K562	blood:
2	chr2:231278566..231281205-chr2:231316961..231318680,2	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178594	0.98[ASN][1000 genomes]
rs10191957	0.81[ASN][1000 genomes]
rs10205096	0.82[ASN][1000 genomes]
rs1156156	0.91[ASN][1000 genomes]
rs11675846	0.96[ASN][1000 genomes]
rs13398034	0.85[ASN][1000 genomes]
rs13411586	0.83[ASN][1000 genomes]
rs1427283	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559987	0.94[ASN][1000 genomes]
rs3754945	0.88[ASN][1000 genomes]
rs58742879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58941251	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60304451	0.88[ASN][1000 genomes]
rs62192251	0.88[ASN][1000 genomes]
rs62193374	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193375	0.88[ASN][1000 genomes]
rs62193377	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193379	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193406	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193407	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193410	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678342	0.82[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584672	chr2:231289976-231348888	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
2	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
3	chr2:231301800-231345000	Weak transcription	A549	lung
4	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:231306600-231323400	Weak transcription	K562	blood
6	chr2:231307400-231321800	Strong transcription	Liver	Liver
7	chr2:231307600-231319600	Strong transcription	Dnd41	blood
8	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr2:231308800-231320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:231310800-231321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:231311400-231324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:231311600-231321000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:231312400-231337000	Weak transcription	HepG2	liver
17	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
18	chr2:231313600-231319800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:231313600-231319800	Weak transcription	NH-A	brain
20	chr2:231314000-231320000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:231314600-231321600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:231314600-231321600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:231314600-231322400	ZNF genes & repeats	GM12878-XiMat	blood
24	chr2:231314800-231321800	Weak transcription	Esophagus	oesophagus
25	chr2:231314800-231321800	Weak transcription	Gastric	stomach
26	chr2:231315000-231319000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:231315000-231319800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:231315000-231319800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:231315000-231319800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:231315000-231320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:231315000-231321800	Weak transcription	Aorta	Aorta
32	chr2:231315000-231321800	Weak transcription	Fetal Stomach	stomach
33	chr2:231315000-231321800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:231315000-231321800	Weak transcription	Spleen	Spleen
35	chr2:231315000-231321800	Weak transcription	NHEK	skin
36	chr2:231315000-231322400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:231315000-231322800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr2:231315000-231325800	Weak transcription	Colonic Mucosa	Colon
39	chr2:231315000-231326000	Weak transcription	Right Ventricle	heart
40	chr2:231315000-231328600	Weak transcription	Small Intestine	intestine
41	chr2:231315000-231330800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr2:231315000-231331800	Weak transcription	Psoas Muscle	Psoas
43	chr2:231315200-231321000	Weak transcription	HSMMtube	muscle
44	chr2:231315200-231323200	Weak transcription	HMEC	breast
45	chr2:231315400-231319400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:231315600-231321800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:231315800-231319000	Weak transcription	Placenta	Placenta
48	chr2:231316000-231319400	Weak transcription	Fetal Lung	lung
49	chr2:231316000-231321400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:231316000-231321600	Weak transcription	NHLF	lung

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