Variant report

Variant	rs12073515
Chromosome Location	chr1:160809389-160809390
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	chr1:160806018..160807839-chr1:160809156..160811151,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11265494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265495	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12060017	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065420	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074019	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084061	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12354107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354108	1.00[AMR][1000 genomes]
rs16832486	0.87[AMR][1000 genomes]
rs16832506	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160793000-160811600	Weak transcription	Gastric	stomach
2	chr1:160803200-160812400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:160803600-160810000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:160804800-160809600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:160805000-160809400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr1:160806600-160810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:160806800-160809800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:160807200-160811000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:160807800-160809400	Weak transcription	Adipose Nuclei	Adipose
10	chr1:160808000-160809800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:160808200-160811800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:160808200-160812200	Weak transcription	Fetal Heart	heart
13	chr1:160808400-160810400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:160808400-160811000	Weak transcription	Fetal Intestine Small	intestine
15	chr1:160808600-160810600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:160808600-160811000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:160808600-160811000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:160808600-160812600	Genic enhancers	Primary hematopoietic stem cells	blood
19	chr1:160808800-160810200	Enhancers	Primary T cells from cord blood	blood
20	chr1:160808800-160811600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:160808800-160812600	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr1:160809000-160810200	Enhancers	Fetal Thymus	thymus
23	chr1:160809000-160810200	Enhancers	Dnd41	blood
24	chr1:160809000-160810600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:160809000-160810600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:160809000-160810800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:160809000-160811200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:160809000-160812400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr1:160809000-160812800	Enhancers	Thymus	Thymus
30	chr1:160809000-160813600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:160809000-160813600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:160809000-160814200	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr1:160809000-160814400	Weak transcription	Spleen	Spleen
34	chr1:160809200-160810600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr1:160809200-160812600	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr1:160809200-160814400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr1:160809200-160814800	Weak transcription	Primary B cells from cord blood	blood

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