Variant report

Variant	rs2295621
Chromosome Location	chr1:160062727-160062728
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	chr1:160056237..160058105-chr1:160061852..160063937,2	K562	blood:
2	chr1:160061469..160063208-chr1:160229753..160232455,2	K562	blood:

Variant related genes	Relation type
ENSG00000228606	Chromatin interaction
ENSG00000132716	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1131891	0.87[CEU][hapmap]
rs12092798	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12401728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12402888	0.83[CEU][hapmap]
rs12408242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295622	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747619	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv520189	chr1:160011512-160095625	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1806746	chr1:160029416-160105927	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv1824420	chr1:160029416-160105927	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
5	esv1843994	chr1:160029416-160105927	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv534066	chr1:160029416-160105986	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	29 gene(s)	inside rSNPs	diseases
7	esv1794281	chr1:160029416-160111565	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160053000-160065200	Weak transcription	Hela-S3	cervix
2	chr1:160053600-160063200	Weak transcription	Small Intestine	intestine
3	chr1:160053800-160066000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:160054000-160066400	Weak transcription	NHDF-Ad	bronchial
5	chr1:160054200-160063400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:160054400-160064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:160054400-160065400	Weak transcription	Right Atrium	heart
8	chr1:160054400-160066000	Weak transcription	GM12878-XiMat	blood
9	chr1:160054400-160066200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:160054400-160066200	Weak transcription	HMEC	breast
11	chr1:160054400-160066600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:160054600-160063000	Strong transcription	Thymus	Thymus
13	chr1:160055800-160063000	Strong transcription	Fetal Intestine Small	intestine
14	chr1:160055800-160065400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:160055800-160066400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:160056000-160065400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:160056400-160063000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr1:160056400-160065200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:160056600-160063000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:160056600-160063200	Strong transcription	Primary T cells from cord blood	blood
21	chr1:160056600-160065400	Genic enhancers	Brain Inferior Temporal Lobe	brain
22	chr1:160056800-160065200	Strong transcription	Adipose Nuclei	Adipose
23	chr1:160056800-160065600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:160056800-160066400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:160057000-160063000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:160057000-160063400	Strong transcription	Fetal Stomach	stomach
27	chr1:160057000-160063400	Strong transcription	Spleen	Spleen
28	chr1:160057000-160064400	Strong transcription	Placenta Amnion	Placenta Amnion
29	chr1:160057000-160064800	Strong transcription	Ovary	ovary
30	chr1:160057000-160065000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:160057000-160065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:160057200-160065000	Strong transcription	Lung	lung
33	chr1:160057200-160065400	Weak transcription	Fetal Brain Male	brain
34	chr1:160057400-160065200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:160057600-160063400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:160057600-160063600	Genic enhancers	Brain Hippocampus Middle	brain
37	chr1:160057600-160066400	Weak transcription	HSMM	muscle
38	chr1:160057800-160065200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:160057800-160065400	Strong transcription	Brain Germinal Matrix	brain
40	chr1:160057800-160065600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:160058000-160063000	Strong transcription	Fetal Thymus	thymus
42	chr1:160058000-160063200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr1:160058000-160064800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:160058000-160065200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:160058200-160062800	Strong transcription	Fetal Intestine Large	intestine
46	chr1:160058200-160063200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:160058200-160064800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr1:160058200-160065200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:160058200-160065400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr1:160058200-160065800	Strong transcription	Fetal Brain Female	brain

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