Variant report

Variant	rs2567599
Chromosome Location	chr2:73994074-73994075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10865400	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11683738	1.00[JPT][hapmap]
rs2421678	1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2901466	0.87[EUR][1000 genomes]
rs35232003	0.87[EUR][1000 genomes]
rs3860464	0.86[EUR][1000 genomes]
rs67567075	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73964600-74005400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:73971400-74002200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:73976600-74004400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:73977200-73995000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:73977400-74001400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:73977400-74004800	Strong transcription	Duodenum Mucosa	Duodenum
7	chr2:73977600-74004800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:73977800-74004000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:73978000-74004200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:73978200-73998400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr2:73978800-73995200	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr2:73981600-74004800	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:73982000-74004600	Strong transcription	Primary T cells from cord blood	blood
14	chr2:73982000-74004800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr2:73982000-74005200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:73982200-73997200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:73982200-73998400	Strong transcription	Fetal Intestine Large	intestine
18	chr2:73982200-74002600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:73982200-74004000	Strong transcription	Dnd41	blood
20	chr2:73982200-74004800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:73982200-74005200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:73982400-74002400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:73982400-74002600	Strong transcription	Muscle Satellite Cultured Cells	--
24	chr2:73982400-74004800	Strong transcription	Placenta	Placenta
25	chr2:73982400-74005000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:73982600-74005000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:73982600-74005000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:73982800-74004800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:73982800-74005000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:73983000-74005000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:73983400-74004400	Strong transcription	HepG2	liver
32	chr2:73983600-74005400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr2:73983600-74006400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:73983800-74006000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:73984200-73997200	Strong transcription	HMEC	breast
36	chr2:73986000-73997200	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:73986200-74005200	Strong transcription	Fetal Thymus	thymus
38	chr2:73986400-73997000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr2:73986600-74002400	Strong transcription	A549	lung
40	chr2:73986800-74001000	Strong transcription	GM12878-XiMat	blood
41	chr2:73986800-74002600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:73987000-74002600	Strong transcription	HSMM	muscle
43	chr2:73987000-74004400	Strong transcription	Hela-S3	cervix
44	chr2:73987000-74005200	Strong transcription	Fetal Muscle Leg	muscle
45	chr2:73987200-73997000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:73987200-74001600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:73987200-74005000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:73987200-74005400	Weak transcription	Psoas Muscle	Psoas
49	chr2:73987400-73998400	Strong transcription	Brain Anterior Caudate	brain
50	chr2:73987400-74002600	Strong transcription	Adipose Nuclei	Adipose

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