Variant report

Variant	rs73922885
Chromosome Location	chr2:36565555-36565556
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17018644	0.81[AFR][1000 genomes]
rs17018748	1.00[AMR][1000 genomes]
rs56389851	1.00[AMR][1000 genomes]
rs72866858	1.00[AMR][1000 genomes]
rs73922886	1.00[AMR][1000 genomes]
rs73922894	1.00[AMR][1000 genomes]
rs73924827	1.00[AMR][1000 genomes]
rs73924838	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757792	chr2:36243452-36590658	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2759040	chr2:36243452-36590658	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2756914	chr2:36288035-36570574	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv34222	chr2:36309662-36569049	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv518004	chr2:36346005-36569014	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv581464	chr2:36346005-36569014	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv456352	chr2:36346005-36575659	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv581465	chr2:36346005-36575659	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1004156	chr2:36351103-36569122	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv581466	chr2:36353996-36569014	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36561200-36565800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:36561200-36566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:36564000-36565600	Enhancers	Placenta	Placenta
4	chr2:36564200-36565600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:36564600-36565800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:36564600-36565800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:36564600-36566200	Enhancers	Fetal Kidney	kidney
8	chr2:36564600-36567400	Enhancers	HSMM	muscle
9	chr2:36564600-36567600	Enhancers	HSMMtube	muscle
10	chr2:36564600-36567600	Enhancers	NHDF-Ad	bronchial
11	chr2:36564600-36567600	Enhancers	Osteobl	bone
12	chr2:36564800-36566400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:36564800-36567200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr2:36564800-36567400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:36565000-36566200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:36565200-36565600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:36565200-36565600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:36565200-36565600	Enhancers	Spleen	Spleen
19	chr2:36565200-36565800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:36565200-36566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:36565200-36566800	Enhancers	NHEK	skin
22	chr2:36565200-36567000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr2:36565200-36567200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:36565200-36567200	Enhancers	HMEC	breast
25	chr2:36565200-36567400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr2:36565200-36567400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:36565200-36567400	Enhancers	NHLF	lung
28	chr2:36565200-36567600	Enhancers	NH-A	brain
29	chr2:36565400-36565600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:36565400-36565600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:36565400-36565800	Enhancers	Placenta Amnion	Placenta Amnion
32	chr2:36565400-36565800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr2:36565400-36566200	Flanking Active TSS	A549	lung
34	chr2:36565400-36566200	Enhancers	HepG2	liver
35	chr2:36565400-36566200	Enhancers	HUVEC	blood vessel
36	chr2:36565400-36566400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:36565400-36567200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:36565400-36567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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