Variant report

Variant	rs62193407
Chromosome Location	chr2:231317171-231317172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231312551..231315093-chr2:231315944..231317572,2	MCF-7	breast:
2	chr2:231279705..231282048-chr2:231316333..231318680,2	K562	blood:
3	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]
rs13406769	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13411586	0.83[ASN][1000 genomes]
rs1427283	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1559987	0.94[ASN][1000 genomes]
rs3754945	0.88[ASN][1000 genomes]
rs58742879	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58941251	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60304451	0.88[ASN][1000 genomes]
rs62192251	0.88[ASN][1000 genomes]
rs62193374	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193375	0.88[ASN][1000 genomes]
rs62193377	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193379	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193406	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193410	0.97[AMR][1000 genomes];0.97[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:94 , 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	chr2:231303200-231317200	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr2:231304400-231320800	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:231306600-231323400	Weak transcription	K562	blood
7	chr2:231306800-231318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:231307400-231317600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:231307400-231318200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:231307400-231321800	Strong transcription	Liver	Liver
11	chr2:231307600-231318200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr2:231307600-231319600	Strong transcription	Dnd41	blood
13	chr2:231307600-231336600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr2:231307800-231318400	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr2:231308400-231318000	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr2:231308600-231318000	Strong transcription	Osteobl	bone
17	chr2:231308600-231318200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:231308800-231320800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:231308800-231337000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:231308800-231337400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:231309600-231336800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:231310800-231321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:231311400-231324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:231311600-231321000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:231312400-231337000	Weak transcription	HepG2	liver
26	chr2:231312400-231337200	Weak transcription	Hela-S3	cervix
27	chr2:231313200-231318400	Strong transcription	Adipose Nuclei	Adipose
28	chr2:231313600-231317600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:231313600-231318400	Strong transcription	Primary T cells from cord blood	blood
30	chr2:231313600-231319800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:231313600-231319800	Weak transcription	NH-A	brain
32	chr2:231313800-231318400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:231314000-231317200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:231314000-231320000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:231314600-231321600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr2:231314600-231321600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:231314600-231322400	ZNF genes & repeats	GM12878-XiMat	blood
38	chr2:231314800-231321800	Weak transcription	Esophagus	oesophagus
39	chr2:231314800-231321800	Weak transcription	Gastric	stomach
40	chr2:231315000-231317200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:231315000-231317600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:231315000-231317600	Weak transcription	Fetal Intestine Large	intestine
43	chr2:231315000-231317600	Weak transcription	Lung	lung
44	chr2:231315000-231317600	Weak transcription	Ovary	ovary
45	chr2:231315000-231317600	Weak transcription	Thymus	Thymus
46	chr2:231315000-231317800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:231315000-231317800	Weak transcription	Pancreas	Pancrea
48	chr2:231315000-231319000	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:231315000-231319800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr2:231315000-231319800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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