Variant report

Variant	rs12097169
Chromosome Location	chr1:151135855-151135856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151131080..151134028-chr1:151135601..151138206,6	K562	blood:
2	chr1:151040998..151044328-chr1:151135769..151140484,5	MCF-7	breast:
3	chr1:151117625..151120818-chr1:151135402..151140051,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197622	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000143458	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12058128	0.86[EUR][1000 genomes]
rs12060682	0.89[EUR][1000 genomes]
rs12088941	0.89[EUR][1000 genomes]
rs12089658	0.86[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs12090246	0.86[EUR][1000 genomes]
rs3892218	0.86[EUR][1000 genomes]
rs59603391	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61321900	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151128400-151136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:151128800-151136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:151129200-151136800	Weak transcription	Hela-S3	cervix
4	chr1:151129200-151137000	Weak transcription	Stomach Mucosa	stomach
5	chr1:151130200-151137000	Weak transcription	Right Atrium	heart
6	chr1:151130400-151136200	Weak transcription	Fetal Brain Male	brain
7	chr1:151131600-151137400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:151132400-151136800	Weak transcription	Fetal Heart	heart
9	chr1:151132800-151136000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:151133600-151137000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:151133600-151137000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:151133600-151137000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:151133600-151137000	Weak transcription	NH-A	brain
14	chr1:151133600-151137200	Weak transcription	Aorta	Aorta
15	chr1:151134000-151136800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:151134200-151136800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:151134200-151137000	Weak transcription	Small Intestine	intestine
18	chr1:151134200-151137200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:151134200-151137600	Weak transcription	Lung	lung
20	chr1:151134400-151136000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:151134400-151136600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:151134400-151136600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:151134400-151136600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:151134400-151136600	Weak transcription	Brain Substantia Nigra	brain
25	chr1:151134400-151136600	Weak transcription	Fetal Intestine Small	intestine
26	chr1:151134400-151136600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:151134400-151136600	Weak transcription	GM12878-XiMat	blood
28	chr1:151134400-151136600	Weak transcription	Osteobl	bone
29	chr1:151134400-151136800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:151134400-151136800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:151134400-151136800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:151134400-151136800	Weak transcription	Fetal Brain Female	brain
33	chr1:151134400-151136800	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:151134400-151136800	Weak transcription	HUVEC	blood vessel
35	chr1:151134400-151136800	Weak transcription	K562	blood
36	chr1:151134400-151136800	Weak transcription	NHLF	lung
37	chr1:151134400-151137000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr1:151134400-151137000	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:151134400-151137000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr1:151134400-151137000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:151134400-151137000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:151134400-151137000	Weak transcription	Gastric	stomach
43	chr1:151134400-151137000	Weak transcription	Ovary	ovary
44	chr1:151134400-151137000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:151134400-151137000	Weak transcription	HSMMtube	muscle
46	chr1:151134400-151137200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:151134400-151137200	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr1:151134400-151137200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:151134400-151137200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr1:151134400-151137400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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