Variant report

Variant	rs74112551
Chromosome Location	chr1:114575656-114575657
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114575601..114576530-chr1:114888663..114889718,3	MCF-7	breast:
2	chr1:114519655..114520167-chr1:114575158..114576111,2	MCF-7	breast:
3	chr1:114575592..114576473-chr1:114761828..114762361,2	MCF-7	breast:
4	chr1:114534979..114536505-chr1:114575410..114577560,2	MCF-7	breast:
5	chr1:114569420..114571718-chr1:114573610..114578040,4	MCF-7	breast:
6	chr1:114575048..114578122-chr1:114756495..114758654,3	MCF-7	breast:
7	chr1:114572795..114577655-chr1:114580622..114587867,10	MCF-7	breast:
8	chr1:114575470..114578189-chr1:114589215..114591996,2	MCF-7	breast:
9	chr1:114575353..114578271-chr1:114615891..114617470,2	MCF-7	breast:
10	chr1:114575585..114577385-chr9:88968355..88970269,2	MCF-7	breast:
11	chr1:114574805..114577310-chr16:67192627..67195082,2	MCF-7	breast:
12	chr1:114575631..114576521-chr1:114825066..114826040,4	MCF-7	breast:
13	chr1:114574403..114579108-chr1:114596233..114599527,4	MCF-7	breast:
14	chr1:114573784..114577041-chr1:114577163..114579413,3	MCF-7	breast:
15	chr1:114575647..114576555-chr1:114825189..114826082,7	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFML3-2	chr1:114574961-114577268	NONHSAT005352

No data

Variant related genes	Relation type
ENSG00000135722	Chromatin interaction
ENSG00000083223	Chromatin interaction
ENSG00000102871	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11102717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102718	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062241	1.00[AMR][1000 genomes]
rs12076115	1.00[AMR][1000 genomes]
rs12079394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087525	1.00[AMR][1000 genomes]
rs12087807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097968	1.00[AFR][1000 genomes]
rs12098025	1.00[AFR][1000 genomes]
rs57823986	1.00[AMR][1000 genomes]
rs58203825	1.00[AMR][1000 genomes]
rs60420764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690665	1.00[AMR][1000 genomes]
rs74112072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74113350	1.00[AMR][1000 genomes]
rs7515723	1.00[AMR][1000 genomes]
rs7527367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529814	1.00[AFR][1000 genomes];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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114574800-114577400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:114575000-114576000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:114575000-114576000	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:114575000-114576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:114575000-114576000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:114575000-114576000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:114575000-114576000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr1:114575000-114576000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:114575000-114576000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:114575000-114576000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:114575000-114576000	Enhancers	NHLF	lung
12	chr1:114575000-114576200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:114575000-114576200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:114575000-114576200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:114575000-114576200	Enhancers	NHDF-Ad	bronchial
16	chr1:114575000-114576200	Enhancers	Osteobl	bone
17	chr1:114575000-114576400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:114575000-114576400	Enhancers	HSMM	muscle
19	chr1:114575000-114576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:114575000-114576800	Enhancers	Fetal Intestine Small	intestine
21	chr1:114575000-114577000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:114575000-114577200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:114575000-114577200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:114575000-114577400	Enhancers	NHEK	skin
25	chr1:114575000-114577600	Enhancers	HMEC	breast
26	chr1:114575000-114577800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr1:114575000-114578000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:114575000-114578400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:114575000-114578400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:114575200-114575800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr1:114575200-114575800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:114575200-114575800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:114575200-114576000	Enhancers	HSMMtube	muscle
34	chr1:114575200-114576200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr1:114575200-114576600	Enhancers	Placenta Amnion	Placenta Amnion
36	chr1:114575200-114577200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:114575200-114578400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr1:114575400-114575800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr1:114575400-114575800	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:114575400-114575800	Flanking Active TSS	NH-A	brain
41	chr1:114575400-114576000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:114575400-114576000	Enhancers	Colon Smooth Muscle	Colon
43	chr1:114575400-114576000	Flanking Active TSS	A549	lung
44	chr1:114575400-114576200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:114575400-114576600	Enhancers	Fetal Intestine Large	intestine
46	chr1:114575400-114576600	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr1:114575400-114577400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr1:114575400-114577600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:114575600-114575800	Enhancers	Right Atrium	heart
50	chr1:114575600-114576000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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