Variant report

Variant	rs62193374
Chromosome Location	chr2:231292297-231292298
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	chr2:231280204..231282363-chr2:231291023..231293391,2	K562	blood:
2	chr2:231280204..231284388-chr2:231286093..231293391,7	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 25 )
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	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13411586	0.92[ASN][1000 genomes]
rs1427283	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559987	0.89[ASN][1000 genomes]
rs3754945	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58742879	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58941251	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60304451	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62192251	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62193375	0.98[ASN][1000 genomes]
rs62193377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193406	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193407	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62193410	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9678342	0.91[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:86 , 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	chr2:231282400-231292600	Weak transcription	A549	lung
6	chr2:231283600-231293800	Weak transcription	Fetal Lung	lung
7	chr2:231283600-231294800	Weak transcription	HSMM	muscle
8	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:231283800-231294600	Weak transcription	Fetal Heart	heart
10	chr2:231283800-231294800	Weak transcription	Esophagus	oesophagus
11	chr2:231284200-231292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:231284200-231294800	Weak transcription	Lung	lung
13	chr2:231284200-231294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:231284200-231294800	Weak transcription	Thymus	Thymus
15	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:231284200-231304000	Weak transcription	NH-A	brain
17	chr2:231284400-231293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:231284600-231306200	Weak transcription	HMEC	breast
19	chr2:231287600-231293400	Weak transcription	Fetal Muscle Leg	muscle
20	chr2:231287800-231292400	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr2:231288800-231293800	Weak transcription	NHDF-Ad	bronchial
22	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
23	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
24	chr2:231289000-231292400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:231289000-231293400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr2:231289000-231293600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:231289000-231293800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:231289000-231293800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:231289000-231293800	Weak transcription	Osteobl	bone
30	chr2:231289000-231294000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr2:231289000-231294800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:231289000-231295000	Weak transcription	Right Ventricle	heart
33	chr2:231289000-231299400	Weak transcription	NHLF	lung
34	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
35	chr2:231289200-231292400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:231289200-231292800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:231289200-231293400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:231289200-231293400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:231289200-231293400	Weak transcription	Spleen	Spleen
40	chr2:231289200-231293800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:231289200-231294800	Weak transcription	Adipose Nuclei	Adipose
42	chr2:231289200-231294800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:231289400-231293400	Weak transcription	Left Ventricle	heart
44	chr2:231289600-231293000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:231289600-231293400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:231289600-231294800	Weak transcription	Ovary	ovary
47	chr2:231289600-231294800	Weak transcription	Pancreas	Pancrea
48	chr2:231289600-231295400	Weak transcription	Small Intestine	intestine
49	chr2:231290000-231295200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:231290200-231292400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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