Variant report

Variant	rs58941251
Chromosome Location	chr2:231287882-231287883
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	chr2:231280900..231283115-chr2:231286093..231288077,3	K562	blood:
2	chr2:231280204..231284388-chr2:231286093..231293391,7	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:23)

rs_ID	r²[population]
rs10178594	0.88[ASN][1000 genomes]
rs10182438	0.87[ASN][1000 genomes]
rs10191957	0.91[ASN][1000 genomes]
rs10205096	0.91[ASN][1000 genomes]
rs1156156	0.82[ASN][1000 genomes]
rs11675846	0.87[ASN][1000 genomes]
rs13398034	0.94[ASN][1000 genomes]
rs13406769	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13411586	0.92[ASN][1000 genomes]
rs1427283	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559987	0.89[ASN][1000 genomes]
rs3754945	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58742879	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60304451	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62192251	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193374	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193375	0.98[ASN][1000 genomes]
rs62193377	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193379	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193406	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193407	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193410	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9678342	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	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231281600-231294800	Weak transcription	Gastric	stomach
2	chr2:231281800-231293000	Weak transcription	Fetal Stomach	stomach
3	chr2:231282000-231293400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:231282000-231294000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:231282400-231288600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:231282400-231292600	Weak transcription	A549	lung
7	chr2:231282600-231288600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:231282600-231290000	Weak transcription	Placenta	Placenta
9	chr2:231283400-231288400	Weak transcription	HepG2	liver
10	chr2:231283600-231288600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:231283600-231288800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:231283600-231293800	Weak transcription	Fetal Lung	lung
13	chr2:231283600-231294800	Weak transcription	HSMM	muscle
14	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:231283800-231288400	Weak transcription	K562	blood
16	chr2:231283800-231294600	Weak transcription	Fetal Heart	heart
17	chr2:231283800-231294800	Weak transcription	Esophagus	oesophagus
18	chr2:231284200-231288400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:231284200-231288400	Weak transcription	Right Atrium	heart
20	chr2:231284200-231288400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr2:231284200-231288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:231284200-231288600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:231284200-231288600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:231284200-231288600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:231284200-231288600	Weak transcription	Ovary	ovary
26	chr2:231284200-231288600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr2:231284200-231288600	Weak transcription	Right Ventricle	heart
28	chr2:231284200-231288800	Weak transcription	Psoas Muscle	Psoas
29	chr2:231284200-231290400	Genic enhancers	Primary B cells from peripheral blood	blood
30	chr2:231284200-231290400	Genic enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:231284200-231290800	Weak transcription	Hela-S3	cervix
32	chr2:231284200-231292000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:231284200-231292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:231284200-231292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:231284200-231294800	Weak transcription	Lung	lung
36	chr2:231284200-231294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:231284200-231294800	Weak transcription	Thymus	Thymus
38	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:231284200-231304000	Weak transcription	NH-A	brain
40	chr2:231284400-231288400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:231284400-231293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:231284600-231288400	Weak transcription	NHEK	skin
43	chr2:231284600-231288600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:231284600-231288600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr2:231284600-231288600	Weak transcription	Spleen	Spleen
46	chr2:231284600-231306200	Weak transcription	HMEC	breast
47	chr2:231285200-231290400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:231285400-231288400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:231285400-231290400	Genic enhancers	Primary B cells from cord blood	blood
50	chr2:231285600-231288400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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