Variant report

Variant	rs12727865
Chromosome Location	chr1:154303705-154303706
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	chr1:154301040..154304335-chr1:154309259..154312100,3	K562	blood:
2	chr1:154297523..154301046-chr1:154302603..154305255,3	K562	blood:

Variant related genes	Relation type
ENSG00000143515	Chromatin interaction
ENSG00000238365	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12077870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12748146	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35950207	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3890153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6668968	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6672010	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6685323	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6702754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv523934	chr1:154296076-154307630	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154301000-154308400	Weak transcription	Fetal Kidney	kidney
2	chr1:154301200-154304000	Weak transcription	NHEK	skin
3	chr1:154301400-154318400	Weak transcription	Small Intestine	intestine
4	chr1:154301800-154303800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:154301800-154304000	Weak transcription	Ovary	ovary
6	chr1:154301800-154304000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:154301800-154306800	Weak transcription	Right Atrium	heart
8	chr1:154301800-154307400	Weak transcription	Pancreas	Pancrea
9	chr1:154302000-154304000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:154302000-154306800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:154302200-154312200	Weak transcription	Gastric	stomach
12	chr1:154302200-154312600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:154302200-154322400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:154302400-154304000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr1:154302400-154304800	Strong transcription	Fetal Lung	lung
16	chr1:154302400-154305400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:154302400-154305400	Strong transcription	Colon Smooth Muscle	Colon
18	chr1:154302400-154305600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:154302400-154306000	Strong transcription	NHLF	lung
20	chr1:154302400-154306400	Weak transcription	Liver	Liver
21	chr1:154302400-154306400	Strong transcription	NHDF-Ad	bronchial
22	chr1:154302400-154322400	Strong transcription	Dnd41	blood
23	chr1:154302400-154323200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:154302600-154303800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:154302600-154303800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
26	chr1:154302600-154303800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:154302600-154304200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:154302600-154304600	Strong transcription	K562	blood
29	chr1:154302600-154305000	Strong transcription	HepG2	liver
30	chr1:154302600-154306200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:154302600-154306200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:154302600-154306400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:154302600-154306400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:154302600-154306600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:154302600-154307000	Strong transcription	Fetal Stomach	stomach
36	chr1:154302600-154309800	Weak transcription	Fetal Brain Male	brain
37	chr1:154302600-154314400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:154302600-154318200	Weak transcription	Fetal Heart	heart
39	chr1:154302600-154320800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:154302600-154322600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:154302600-154323000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:154302800-154304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr1:154302800-154305400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:154302800-154305800	Strong transcription	Placenta	Placenta
45	chr1:154302800-154306600	Strong transcription	Osteobl	bone
46	chr1:154302800-154307600	Strong transcription	Aorta	Aorta
47	chr1:154302800-154307800	Strong transcription	Brain Germinal Matrix	brain
48	chr1:154302800-154323000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:154303000-154304600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:154303000-154304800	Strong transcription	Right Ventricle	heart

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