Variant report

Variant	rs13000381
Chromosome Location	chr2:231293139-231293140
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231292538..231294481-chr2:231296782..231298607,2	MCF-7	breast:
2	chr2:231280204..231282363-chr2:231291023..231293391,2	K562	blood:
3	chr2:231292379..231294379-chr2:231300867..231302513,2	K562	blood:
4	chr2:231280204..231284388-chr2:231286093..231293391,7	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10165012	1.00[CHB][hapmap]
rs10170241	1.00[CHB][hapmap]
rs10207273	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694864	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694866	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694869	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707444	1.00[CHB][hapmap]
rs6710287	1.00[CHB][hapmap]
rs6742304	1.00[CHB][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13000381	LOC93349	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231281600-231294800	Weak transcription	Gastric	stomach
2	chr2:231282000-231293400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:231282000-231294000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:231283600-231293800	Weak transcription	Fetal Lung	lung
5	chr2:231283600-231294800	Weak transcription	HSMM	muscle
6	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:231283800-231294600	Weak transcription	Fetal Heart	heart
8	chr2:231283800-231294800	Weak transcription	Esophagus	oesophagus
9	chr2:231284200-231294800	Weak transcription	Lung	lung
10	chr2:231284200-231294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:231284200-231294800	Weak transcription	Thymus	Thymus
12	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:231284200-231304000	Weak transcription	NH-A	brain
14	chr2:231284600-231306200	Weak transcription	HMEC	breast
15	chr2:231287600-231293400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:231288800-231293800	Weak transcription	NHDF-Ad	bronchial
17	chr2:231288800-231319000	Weak transcription	Fetal Kidney	kidney
18	chr2:231288800-231356000	Weak transcription	Stomach Mucosa	stomach
19	chr2:231289000-231293400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:231289000-231293600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:231289000-231293800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:231289000-231293800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:231289000-231293800	Weak transcription	Osteobl	bone
24	chr2:231289000-231294000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:231289000-231294800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:231289000-231295000	Weak transcription	Right Ventricle	heart
27	chr2:231289000-231299400	Weak transcription	NHLF	lung
28	chr2:231289000-231309200	Weak transcription	Aorta	Aorta
29	chr2:231289200-231293400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:231289200-231293400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:231289200-231293400	Weak transcription	Spleen	Spleen
32	chr2:231289200-231293800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:231289200-231294800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:231289200-231294800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr2:231289400-231293400	Weak transcription	Left Ventricle	heart
36	chr2:231289600-231293400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:231289600-231294800	Weak transcription	Ovary	ovary
38	chr2:231289600-231294800	Weak transcription	Pancreas	Pancrea
39	chr2:231289600-231295400	Weak transcription	Small Intestine	intestine
40	chr2:231290000-231295200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:231290400-231293400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr2:231290800-231294800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:231291000-231295200	ZNF genes & repeats	GM12878-XiMat	blood
44	chr2:231291200-231299600	Weak transcription	NHEK	skin
45	chr2:231291600-231293400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:231291600-231293400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:231291600-231293400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:231291600-231293400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:231291600-231293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:231291600-231295000	Weak transcription	Hela-S3	cervix

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