Variant report

Variant	rs12068218
Chromosome Location	chr1:120174683-120174684
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120165887..120168379-chr1:120172138..120174819,2	MCF-7	breast:
2	chr1:120173306..120174926-chr1:120188147..120191050,2	MCF-7	breast:
3	chr1:120162086..120165079-chr1:120173514..120175556,2	MCF-7	breast:
4	chr1:120172872..120175188-chr1:120180401..120183308,2	MCF-7	breast:
5	chr1:120174001..120176369-chr1:120189431..120193664,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10923880	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10923881	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12087022	0.86[EUR][1000 genomes]
rs72695150	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72695153	0.95[AMR][1000 genomes];1.00[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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120163600-120188400	Weak transcription	Hela-S3	cervix
2	chr1:120165800-120189600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:120168400-120174800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:120168400-120187000	Weak transcription	K562	blood
5	chr1:120168800-120175800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:120169000-120178400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:120169200-120174800	Enhancers	Fetal Lung	lung
8	chr1:120169400-120178400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:120169400-120184400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:120172800-120177400	Enhancers	Fetal Kidney	kidney
11	chr1:120173200-120175000	Enhancers	Small Intestine	intestine
12	chr1:120173200-120175400	Enhancers	Placenta	Placenta
13	chr1:120173400-120175400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr1:120173400-120175400	Enhancers	Lung	lung
15	chr1:120173600-120174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:120173600-120174800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:120173600-120174800	Enhancers	Fetal Brain Male	brain
18	chr1:120173600-120175000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:120173600-120175200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:120173600-120175200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:120173600-120175200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:120173600-120175400	Enhancers	Spleen	Spleen
23	chr1:120173600-120175600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:120173600-120175600	Enhancers	HMEC	breast
25	chr1:120173800-120174800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:120173800-120174800	Flanking Active TSS	Right Atrium	heart
27	chr1:120173800-120175000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr1:120173800-120175000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:120173800-120175000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:120173800-120175000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:120173800-120175000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:120173800-120175000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:120173800-120175000	Flanking Active TSS	HSMM	muscle
34	chr1:120173800-120175200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:120173800-120175200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
36	chr1:120173800-120175400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:120173800-120175400	Enhancers	Gastric	stomach
38	chr1:120173800-120175600	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:120173800-120175800	Flanking Active TSS	HUVEC	blood vessel
40	chr1:120174000-120174800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:120174000-120174800	Active TSS	Brain Angular Gyrus	brain
42	chr1:120174000-120174800	Active TSS	Brain Substantia Nigra	brain
43	chr1:120174000-120174800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr1:120174000-120175000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr1:120174000-120175200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:120174400-120174800	Flanking Active TSS	Liver	Liver
47	chr1:120174400-120174800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr1:120174400-120174800	Flanking Active TSS	Fetal Stomach	stomach
49	chr1:120174400-120174800	Flanking Active TSS	Ovary	ovary
50	chr1:120174400-120174800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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