Variant report

Variant	rs73000209
Chromosome Location	chr2:231288679-231288680
allele	A/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..231284388-chr2:231286093..231293391,7	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10202501	0.83[AFR][1000 genomes]
rs12694867	0.83[AFR][1000 genomes]
rs13006418	0.81[AFR][1000 genomes]
rs17273810	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55798834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55900888	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62192253	1.00[ASN][1000 genomes]
rs62193380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193412	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62193413	1.00[ASN][1000 genomes]
rs73000227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:93 , 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	chr2:231282600-231290000	Weak transcription	Placenta	Placenta
7	chr2:231283600-231288800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:231283600-231293800	Weak transcription	Fetal Lung	lung
9	chr2:231283600-231294800	Weak transcription	HSMM	muscle
10	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:231283800-231294600	Weak transcription	Fetal Heart	heart
12	chr2:231283800-231294800	Weak transcription	Esophagus	oesophagus
13	chr2:231284200-231288800	Weak transcription	Psoas Muscle	Psoas
14	chr2:231284200-231290400	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr2:231284200-231290400	Genic enhancers	Monocytes-CD14+_RO01746	blood
16	chr2:231284200-231290800	Weak transcription	Hela-S3	cervix
17	chr2:231284200-231292000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:231284200-231292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:231284200-231292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:231284200-231294800	Weak transcription	Lung	lung
21	chr2:231284200-231294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:231284200-231294800	Weak transcription	Thymus	Thymus
23	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:231284200-231304000	Weak transcription	NH-A	brain
25	chr2:231284400-231293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:231284600-231306200	Weak transcription	HMEC	breast
27	chr2:231285200-231290400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:231285400-231290400	Genic enhancers	Primary B cells from cord blood	blood
29	chr2:231285600-231289200	Strong transcription	Fetal Thymus	thymus
30	chr2:231285800-231289600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
31	chr2:231286600-231288800	Enhancers	Primary T cells from cord blood	blood
32	chr2:231287000-231289200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:231287200-231288800	Genic enhancers	HUVEC	blood vessel
34	chr2:231287200-231289000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:231287200-231289200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:231287200-231289200	Enhancers	Adipose Nuclei	Adipose
37	chr2:231287400-231289200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:231287600-231288800	Enhancers	Liver	Liver
39	chr2:231287600-231289800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:231287600-231291600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr2:231287600-231292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr2:231287600-231293400	Weak transcription	Fetal Muscle Leg	muscle
43	chr2:231287800-231292400	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr2:231288200-231289000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:231288200-231289200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:231288200-231289600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:231288400-231288800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:231288400-231288800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr2:231288400-231288800	Flanking Active TSS	Stomach Mucosa	stomach
50	chr2:231288400-231288800	Genic enhancers	NHDF-Ad	bronchial

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