Variant report

Variant	rs12060017
Chromosome Location	chr1:160797350-160797351
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	chr1:160791268..160793471-chr1:160795431..160798157,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs11265494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265495	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12065420	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073515	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074019	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084061	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs12354107	0.85[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160771000-160806600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:160778000-160798400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr1:160778400-160799600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:160782400-160798200	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:160782600-160803200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:160783800-160798200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr1:160783800-160801000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr1:160783800-160803200	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr1:160790600-160803000	Strong transcription	Primary T cells from cord blood	blood
10	chr1:160791200-160798200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:160791200-160800000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr1:160792400-160798600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:160793000-160811600	Weak transcription	Gastric	stomach
14	chr1:160793400-160807400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:160794000-160805800	Weak transcription	Thymus	Thymus
16	chr1:160794000-160806200	Weak transcription	Spleen	Spleen
17	chr1:160794200-160803000	Weak transcription	Fetal Thymus	thymus
18	chr1:160794400-160797600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:160795800-160798200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:160796000-160797600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:160796000-160797600	Enhancers	HMEC	breast
22	chr1:160796000-160797800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:160796000-160798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:160796000-160798000	Enhancers	NHEK	skin
25	chr1:160796200-160798200	Strong transcription	Primary B cells from cord blood	blood
26	chr1:160796400-160797800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:160796400-160798200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:160796400-160800200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:160796600-160797800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:160796600-160799000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:160796800-160804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:160797000-160798000	Enhancers	A549	lung
33	chr1:160797200-160798200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:160797200-160805000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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