Variant report

Variant	rs2996552
Chromosome Location	chr1:247002694-247002695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246991725..246994648-chr1:247001780..247004599,2	K562	blood:
2	chr1:247001934..247004833-chr1:247007258..247009999,3	K562	blood:

Variant related genes	Relation type
ENSG00000223519	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10732299	1.00[AMR][1000 genomes]
rs10924822	1.00[AMR][1000 genomes]
rs12040914	1.00[AMR][1000 genomes]
rs12069175	1.00[AMR][1000 genomes]
rs12071299	1.00[AMR][1000 genomes]
rs1691257	1.00[AMR][1000 genomes]
rs1779973	1.00[AMR][1000 genomes]
rs1779976	1.00[AMR][1000 genomes]
rs2800223	1.00[AMR][1000 genomes]
rs3007320	1.00[AMR][1000 genomes]
rs3007321	1.00[AMR][1000 genomes]
rs3007325	1.00[AMR][1000 genomes]
rs3007326	1.00[AMR][1000 genomes]
rs3007327	1.00[AMR][1000 genomes]
rs3122533	1.00[AMR][1000 genomes]
rs4244625	1.00[AMR][1000 genomes]
rs4244626	1.00[AMR][1000 genomes]
rs4244629	1.00[AMR][1000 genomes]
rs4511163	1.00[AMR][1000 genomes]
rs4532864	1.00[AMR][1000 genomes]
rs4926452	1.00[AMR][1000 genomes]
rs4926463	1.00[AMR][1000 genomes]
rs6426335	1.00[AMR][1000 genomes]
rs6663093	1.00[AMR][1000 genomes]
rs6696798	1.00[AMR][1000 genomes]
rs7416659	1.00[AMR][1000 genomes]
rs923972	1.00[AMR][1000 genomes]
rs9426266	1.00[AMR][1000 genomes]
rs9426274	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 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	chr1:246989200-247011200	Weak transcription	Fetal Kidney	kidney
2	chr1:246993200-247004200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:246994800-247003200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:246995400-247004200	Weak transcription	HUVEC	blood vessel
5	chr1:246998800-247004200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:246999200-247004600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr1:246999200-247010000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:246999400-247004000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:246999400-247004200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:246999600-247004400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:246999600-247004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:246999800-247004400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:246999800-247004400	Weak transcription	Hela-S3	cervix
14	chr1:246999800-247005600	Weak transcription	Ovary	ovary
15	chr1:246999800-247007600	Weak transcription	Right Ventricle	heart
16	chr1:247000200-247004000	Weak transcription	Osteobl	bone
17	chr1:247000200-247004200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:247000200-247004200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:247000200-247004400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:247000200-247004400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr1:247000200-247020200	Weak transcription	Spleen	Spleen
22	chr1:247000600-247002800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:247000600-247003000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:247000600-247003200	Weak transcription	Fetal Thymus	thymus
25	chr1:247000600-247003400	Weak transcription	Dnd41	blood
26	chr1:247000600-247004200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:247000600-247004600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:247000600-247007800	Weak transcription	Fetal Brain Female	brain
29	chr1:247000800-247004400	Weak transcription	Left Ventricle	heart
30	chr1:247000800-247004600	Weak transcription	Primary B cells from cord blood	blood
31	chr1:247001000-247002800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr1:247001000-247002800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr1:247001000-247004200	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:247001000-247006200	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:247001200-247004000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:247001200-247004000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:247001200-247004200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:247001200-247004400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:247001400-247003200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:247001400-247004000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:247001400-247004200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr1:247001400-247004200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:247001400-247004200	Weak transcription	NHDF-Ad	bronchial
44	chr1:247001400-247004400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:247001400-247004400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:247001400-247012000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:247001400-247016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:247001400-247020000	Weak transcription	Brain Substantia Nigra	brain
49	chr1:247001600-247003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:247001600-247004200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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