Variant report

Variant	rs12740451
Chromosome Location	chr1:95178974-95178975
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	chr1:95177526..95179943-chr1:95182751..95185160,2	K562	blood:
2	chr1:95174355..95177199-chr1:95178886..95181211,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11807145	0.99[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873879	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34233632	0.88[EUR][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:64 , 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	chr1:95168200-95179600	Weak transcription	Placenta	Placenta
3	chr1:95168200-95179800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:95168200-95200400	Weak transcription	Pancreas	Pancrea
5	chr1:95168400-95179400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:95169400-95200400	Weak transcription	Colonic Mucosa	Colon
7	chr1:95172000-95179000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:95173400-95179000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:95173400-95179000	Weak transcription	Ovary	ovary
10	chr1:95173400-95179000	Weak transcription	Osteobl	bone
11	chr1:95173400-95179200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:95173400-95179200	Weak transcription	HSMMtube	muscle
13	chr1:95173400-95200600	Weak transcription	Right Atrium	heart
14	chr1:95174600-95186000	Weak transcription	Fetal Thymus	thymus
15	chr1:95175000-95179800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:95175600-95179200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr1:95175800-95179400	Weak transcription	Lung	lung
18	chr1:95175800-95185400	Weak transcription	Spleen	Spleen
19	chr1:95175800-95192600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:95175800-95193000	Weak transcription	Fetal Stomach	stomach
21	chr1:95176000-95179000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:95176000-95179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:95176200-95189200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:95176400-95179200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:95176400-95179200	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:95177400-95184000	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr1:95178200-95179800	Enhancers	GM12878-XiMat	blood
28	chr1:95178200-95180200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:95178200-95180400	Enhancers	NHEK	skin
30	chr1:95178200-95181400	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr1:95178200-95182000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:95178200-95185800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr1:95178400-95179000	Enhancers	Primary hematopoietic stem cells	blood
34	chr1:95178400-95179600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:95178400-95180000	Enhancers	NHLF	lung
36	chr1:95178400-95180200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:95178400-95180200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:95178400-95180200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:95178400-95180200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr1:95178400-95180200	Enhancers	Hela-S3	cervix
41	chr1:95178400-95180200	Enhancers	NHDF-Ad	bronchial
42	chr1:95178400-95183600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:95178600-95179200	Enhancers	Colon Smooth Muscle	Colon
44	chr1:95178600-95180000	Enhancers	Adipose Nuclei	Adipose
45	chr1:95178600-95180200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:95178600-95180200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:95178600-95180200	Enhancers	Fetal Intestine Large	intestine
48	chr1:95178600-95180200	Enhancers	A549	lung
49	chr1:95178600-95180200	Enhancers	NH-A	brain
50	chr1:95178600-95181600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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