Variant report

Variant	rs62193413
Chromosome Location	chr2:231322125-231322126
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	chr2:231320643..231324421-chr2:231326944..231329739,3	K562	blood:
2	chr2:231321959..231324583-chr2:231327145..231329217,3	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17273810	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798834	1.00[ASN][1000 genomes]
rs62192253	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193380	1.00[ASN][1000 genomes]
rs62193412	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73000209	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	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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
2	chr2:231301800-231345000	Weak transcription	A549	lung
3	chr2:231306600-231323400	Weak transcription	K562	blood
4	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:231311400-231324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:231312400-231337000	Weak transcription	HepG2	liver
10	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
11	chr2:231314600-231322400	ZNF genes & repeats	GM12878-XiMat	blood
12	chr2:231315000-231322400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:231315000-231322800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:231315000-231325800	Weak transcription	Colonic Mucosa	Colon
15	chr2:231315000-231326000	Weak transcription	Right Ventricle	heart
16	chr2:231315000-231328600	Weak transcription	Small Intestine	intestine
17	chr2:231315000-231330800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:231315000-231331800	Weak transcription	Psoas Muscle	Psoas
19	chr2:231315200-231323200	Weak transcription	HMEC	breast
20	chr2:231318800-231323400	Strong transcription	Colon Smooth Muscle	Colon
21	chr2:231319000-231322800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:231319200-231325000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:231319400-231324800	Strong transcription	HUVEC	blood vessel
24	chr2:231319400-231330400	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:231319600-231336000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:231319800-231325000	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:231319800-231329800	Strong transcription	NH-A	brain
28	chr2:231319800-231332200	Weak transcription	Fetal Heart	heart
29	chr2:231319800-231336600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:231319800-231336800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr2:231319800-231336800	Strong transcription	HSMM	muscle
32	chr2:231320000-231336600	Strong transcription	Osteobl	bone
33	chr2:231320200-231323800	Strong transcription	Fetal Lung	lung
34	chr2:231320200-231325800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr2:231320600-231323200	Weak transcription	NHDF-Ad	bronchial
36	chr2:231320600-231329600	Strong transcription	Dnd41	blood
37	chr2:231321000-231322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:231321000-231322400	Strong transcription	HSMMtube	muscle
39	chr2:231321000-231322600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:231321000-231322800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr2:231321000-231323400	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr2:231321000-231323400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:231321000-231325000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr2:231321200-231323400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:231321200-231325000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:231321400-231322800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr2:231321400-231323200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:231321400-231323200	Strong transcription	Fetal Intestine Large	intestine
49	chr2:231321400-231323400	Genic enhancers	Primary T cells from cord blood	blood
50	chr2:231321400-231324200	Genic enhancers	Primary B cells from peripheral blood	blood

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