Variant report

Variant	rs12066190
Chromosome Location	chr1:226951490-226951491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226925787..226928290-chr1:226950796..226952332,2	MCF-7	breast:
2	chr1:226928679..226930371-chr1:226951340..226954074,2	K562	blood:
3	chr1:226945828..226947495-chr1:226950269..226951841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143772	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12061458	1.00[AMR][1000 genomes]
rs12061897	0.83[AFR][1000 genomes]
rs12062664	1.00[AMR][1000 genomes]
rs12066208	1.00[AMR][1000 genomes]
rs12083300	1.00[AMR][1000 genomes]
rs12093413	1.00[AMR][1000 genomes]
rs12095568	1.00[AMR][1000 genomes]
rs12098082	0.83[AFR][1000 genomes]
rs7533208	1.00[AMR][1000 genomes]
rs7535863	1.00[AMR][1000 genomes]
rs7555672	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226945000-226951600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr1:226947800-226954000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:226949000-226952600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:226949200-226957400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:226949400-226951600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:226949600-226952800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:226950200-226952200	Enhancers	Placenta	Placenta
8	chr1:226950200-226952600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr1:226950200-226952600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr1:226950200-226955400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:226950400-226951600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:226950400-226951800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:226950400-226951800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr1:226950400-226952400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:226950400-226957200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:226950800-226952000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:226950800-226952200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:226950800-226953200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:226950800-226953800	Enhancers	Thymus	Thymus
20	chr1:226950800-226954200	Enhancers	Fetal Thymus	thymus
21	chr1:226951000-226952200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr1:226951200-226952400	Enhancers	A549	lung
23	chr1:226951200-226952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:226951200-226952800	Enhancers	Hela-S3	cervix
25	chr1:226951200-226953000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:226951200-226953200	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:226951200-226953200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:226951200-226954400	Enhancers	Osteobl	bone
29	chr1:226951400-226951600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr1:226951400-226951600	Bivalent Enhancer	HUVEC	blood vessel
31	chr1:226951400-226951600	Flanking Active TSS	NHEK	skin
32	chr1:226951400-226951800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:226951400-226951800	Bivalent Enhancer	Fetal Lung	lung
34	chr1:226951400-226952000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:226951400-226952600	Enhancers	H9 Cell Line	embryonic stem cell
36	chr1:226951400-226952600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:226951400-226952600	Enhancers	HMEC	breast
38	chr1:226951400-226952800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:226951400-226952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:226951400-226952800	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:226951400-226953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:226951400-226953000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:226951400-226953000	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:226951400-226953000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:226951400-226953000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:226951400-226953200	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr1:226951400-226953400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:226951400-226953400	Enhancers	NH-A	brain
49	chr1:226951400-226953600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr1:226951400-226954000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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