Variant report

Variant	rs16823579
Chromosome Location	chr2:144966208-144966209
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:144964243..144966732-chr2:144985702..144988124,2	K562	blood:
2	chr2:144959046..144961054-chr2:144965383..144967301,2	K562	blood:
3	chr2:144958460..144960546-chr2:144965383..144967191,2	K562	blood:
4	chr2:144961397..144965444-chr2:144966089..144968979,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16823571	1.00[LWK][hapmap];0.84[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs16823594	0.81[LWK][hapmap];0.87[MKK][hapmap]
rs16823596	0.81[LWK][hapmap];0.87[MKK][hapmap]
rs16823598	0.81[LWK][hapmap];0.93[MKK][hapmap]
rs16823609	1.00[ASW][hapmap];0.93[MKK][hapmap];0.93[YRI][hapmap]
rs60695751	0.98[AFR][1000 genomes]
rs6761553	0.81[LWK][hapmap];0.93[MKK][hapmap]
rs73008262	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
12	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription 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 miRNA target site	11 gene(s)	inside rSNPs	diseases
13	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144931400-144973800	Weak transcription	Ovary	ovary
2	chr2:144948800-144973600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:144952200-144968000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:144952200-144973400	Weak transcription	Brain Hippocampus Middle	brain
5	chr2:144952800-144971200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr2:144953600-144971400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr2:144955800-144969800	Weak transcription	Placenta	Placenta
8	chr2:144955800-144969800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:144955800-144973400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:144955800-144981200	Weak transcription	Fetal Intestine Large	intestine
11	chr2:144956200-144966600	Weak transcription	HSMM	muscle
12	chr2:144956200-144971400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:144956200-144973400	Weak transcription	Small Intestine	intestine
14	chr2:144956200-144973400	Weak transcription	K562	blood
15	chr2:144956200-144976000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:144956200-144985200	Weak transcription	Fetal Intestine Small	intestine
17	chr2:144956800-144967800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:144959000-144973600	Weak transcription	Brain Substantia Nigra	brain
19	chr2:144959800-144968200	Weak transcription	Osteobl	bone
20	chr2:144959800-144968600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:144959800-144975800	Weak transcription	NHLF	lung
22	chr2:144959800-144977600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:144960000-144975600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:144960000-144975800	Weak transcription	NHDF-Ad	bronchial
25	chr2:144960800-144970800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:144961000-144973400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr2:144961200-144967800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:144961200-144968000	Weak transcription	HSMMtube	muscle
29	chr2:144962600-144967400	Weak transcription	Brain Germinal Matrix	brain
30	chr2:144962600-144969400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:144962600-144998600	Weak transcription	Psoas Muscle	Psoas
32	chr2:144962800-144975600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:144963000-144973600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:144963000-144978000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:144963400-144970600	Weak transcription	GM12878-XiMat	blood
36	chr2:144963400-144973400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:144963600-144967800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:144963800-144970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:144963800-144971400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:144964200-144966600	Weak transcription	Fetal Brain Female	brain
41	chr2:144964400-144969000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:144964400-144971200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:144964400-144973800	Weak transcription	Aorta	Aorta
44	chr2:144964400-144998200	Weak transcription	Fetal Kidney	kidney
45	chr2:144964800-144966400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:144965000-144967400	Weak transcription	Fetal Thymus	thymus
47	chr2:144965000-144967400	Weak transcription	Right Ventricle	heart
48	chr2:144965400-144966800	Strong transcription	Left Ventricle	heart
49	chr2:144965400-145010000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:144965600-144973800	Weak transcription	Brain Anterior Caudate	brain

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