Variant report

Variant	rs2298114
Chromosome Location	chr1:212475573-212475574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212467247..212471909-chr1:212472711..212476183,6	K562	blood:

Variant related genes	Relation type
ENSG00000230063	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11119904	0.90[ASN][1000 genomes]
rs12023488	0.89[ASN][1000 genomes]
rs12024665	0.89[ASN][1000 genomes]
rs12033204	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12033246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs12035647	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12410664	0.80[ASN][1000 genomes]
rs1774249	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1992643	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs2252044	0.93[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs3099112	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs351380	0.96[ASN][1000 genomes]
rs351393	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs351398	0.90[ASN][1000 genomes]
rs3767861	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3767862	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs3767863	0.84[ASN][1000 genomes]
rs4951587	0.80[ASN][1000 genomes]
rs4951588	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4951589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6659594	0.85[ASN][1000 genomes]
rs7415843	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7519959	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7521853	0.87[ASN][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
6	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1806604	chr1:212468974-212505860	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212461000-212476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:212464200-212483000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:212464800-212480200	Weak transcription	Lung	lung
5	chr1:212464800-212483800	Weak transcription	Pancreas	Pancrea
6	chr1:212464800-212506400	Weak transcription	Esophagus	oesophagus
7	chr1:212465000-212480200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr1:212465400-212482800	Weak transcription	Fetal Lung	lung
9	chr1:212465800-212483200	Weak transcription	Dnd41	blood
10	chr1:212466200-212506400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:212466600-212479400	Weak transcription	NHEK	skin
12	chr1:212466600-212482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:212466600-212503000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:212467000-212480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:212467200-212481800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:212467400-212480200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr1:212467400-212482800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:212467400-212526000	Weak transcription	A549	lung
19	chr1:212467600-212482800	Weak transcription	HepG2	liver
20	chr1:212468800-212476000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:212468800-212478200	Weak transcription	Fetal Intestine Small	intestine
22	chr1:212469000-212480200	Weak transcription	Fetal Intestine Large	intestine
23	chr1:212469000-212483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:212469000-212483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:212470000-212476000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:212470000-212476400	Weak transcription	K562	blood
27	chr1:212470000-212481800	Weak transcription	Thymus	Thymus
28	chr1:212470400-212481200	Weak transcription	Primary T cells from cord blood	blood
29	chr1:212470800-212482600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr1:212472600-212478200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:212473400-212477000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:212473400-212477800	Weak transcription	Psoas Muscle	Psoas
33	chr1:212473400-212483800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:212473600-212478800	Weak transcription	Small Intestine	intestine
35	chr1:212474000-212477600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr1:212474200-212475600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:212474200-212475600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:212474200-212476600	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:212474200-212484000	Weak transcription	Primary B cells from cord blood	blood
40	chr1:212474200-212502800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:212474400-212475600	Enhancers	Brain Anterior Caudate	brain
42	chr1:212474400-212477200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:212474600-212475600	Enhancers	Fetal Heart	heart
44	chr1:212474600-212476400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:212474600-212477800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:212474600-212477800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:212474600-212482400	Weak transcription	Left Ventricle	heart
48	chr1:212474600-212482600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:212474600-212489200	Weak transcription	Gastric	stomach
50	chr1:212474800-212475600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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