Variant report

Variant	rs58225390
Chromosome Location	chr2:97297003-97297004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97270355..97272803-chr2:97296227..97299529,3	K562	blood:
2	chr2:97292796..97298372-chr2:97302534..97305789,7	MCF-7	breast:
3	chr2:97275906..97278636-chr2:97295699..97298377,2	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	1.00[EUR][1000 genomes]
rs11888876	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs11902657	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs17119533	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2312956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35069910	1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs4440007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56246244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57754441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59503513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72939347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939352	1.00[EUR][1000 genomes]
rs72939374	1.00[EUR][1000 genomes]
rs72939397	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941206	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941231	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72942920	1.00[EUR][1000 genomes]
rs73959007	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][1000 genomes]
rs7583821	1.00[EUR][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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	23 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	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
3	chr2:97275000-97298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:97285400-97302400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:97285800-97300400	Weak transcription	Right Ventricle	heart
6	chr2:97285800-97302800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:97288400-97301800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:97288800-97298000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr2:97288800-97298000	Weak transcription	Right Atrium	heart
10	chr2:97289000-97300800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:97289600-97301400	Strong transcription	Fetal Intestine Large	intestine
12	chr2:97289800-97298600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:97291000-97298400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr2:97291000-97302000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:97292200-97298000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:97292200-97301400	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr2:97292200-97301800	Weak transcription	Stomach Mucosa	stomach
18	chr2:97292200-97302400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:97292200-97302400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:97292200-97302600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:97292400-97302200	Strong transcription	Fetal Muscle Leg	muscle
22	chr2:97292600-97297400	Strong transcription	A549	lung
23	chr2:97292600-97299800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:97292600-97300600	Strong transcription	Brain Germinal Matrix	brain
25	chr2:97292600-97301000	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:97292600-97301400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:97292600-97301400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr2:97292800-97298600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:97292800-97300400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr2:97292800-97301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:97292800-97302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97293000-97297600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:97293000-97298000	Strong transcription	HepG2	liver
34	chr2:97293000-97300600	Strong transcription	Thymus	Thymus
35	chr2:97293000-97301200	Strong transcription	Fetal Stomach	stomach
36	chr2:97293200-97297600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:97293200-97297600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:97293200-97298200	Strong transcription	Placenta	Placenta
39	chr2:97293200-97298600	Strong transcription	GM12878-XiMat	blood
40	chr2:97293200-97299800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:97293200-97300600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:97293200-97301000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:97293400-97297200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:97293400-97297200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr2:97293400-97297200	Strong transcription	HSMM	muscle
46	chr2:97293400-97297800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:97293400-97297800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:97293400-97298000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:97293400-97298000	Strong transcription	Fetal Brain Female	brain
50	chr2:97293400-97298200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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