Variant report

Variant	rs12117189
Chromosome Location	chr1:95172195-95172196
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1891874	0.82[AFR][1000 genomes]
rs6541361	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7547580	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7555734	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][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	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871916	chr1:95143999-95189230	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1001043	chr1:95158042-95185906	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	2 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	chr1:95152800-95195000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:95153000-95173000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:95155800-95173200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:95164800-95174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:95165000-95173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:95165000-95175400	Weak transcription	NH-A	brain
7	chr1:95166200-95174200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:95168200-95173000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:95168200-95173000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:95168200-95174200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:95168200-95174200	Weak transcription	Spleen	Spleen
12	chr1:95168200-95178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:95168200-95179600	Weak transcription	Placenta	Placenta
14	chr1:95168200-95179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
16	chr1:95168400-95172200	Weak transcription	Fetal Kidney	kidney
17	chr1:95168400-95172400	Weak transcription	Gastric	stomach
18	chr1:95168400-95172400	Weak transcription	NHLF	lung
19	chr1:95168400-95173000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:95168400-95174000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:95168400-95174000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:95168400-95174200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:95168400-95178400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:95168400-95179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:95168600-95174200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
27	chr1:95170200-95176800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:95170600-95174400	Enhancers	HSMM	muscle
29	chr1:95170800-95172600	Enhancers	Fetal Intestine Large	intestine
30	chr1:95170800-95172600	Enhancers	Fetal Intestine Small	intestine
31	chr1:95170800-95173400	Enhancers	Ovary	ovary
32	chr1:95171000-95172600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:95171000-95173400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:95171000-95173400	Enhancers	HSMMtube	muscle
35	chr1:95171000-95173400	Enhancers	Osteobl	bone
36	chr1:95171000-95177200	Enhancers	NHDF-Ad	bronchial
37	chr1:95171200-95176400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:95171400-95172600	Enhancers	Stomach Mucosa	stomach
39	chr1:95171400-95173000	Weak transcription	Aorta	Aorta
40	chr1:95171400-95173200	Weak transcription	Fetal Stomach	stomach
41	chr1:95171400-95173400	Enhancers	Fetal Lung	lung
42	chr1:95171400-95176600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:95171600-95174000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:95171800-95172800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:95171800-95173000	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:95171800-95173000	Weak transcription	Right Atrium	heart
47	chr1:95171800-95174200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:95171800-95174200	Weak transcription	Fetal Heart	heart
49	chr1:95171800-95174800	Weak transcription	HepG2	liver
50	chr1:95172000-95172200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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