Variant report

Variant	rs12142028
Chromosome Location	chr1:151242058-151242059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151225991..151228063-chr1:151240379..151242466,2	MCF-7	breast:
2	chr1:151234387..151237177-chr1:151238975..151242676,3	MCF-7	breast:
3	chr1:151139082..151141060-chr1:151241538..151243101,2	MCF-7	breast:
4	chr1:151241271..151243134-chr1:151244958..151246812,2	K562	blood:
5	chr1:151241727..151244431-chr1:151255120..151256643,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159352	Chromatin interaction
ENSG00000163156	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1115	1.00[LWK][hapmap]
rs11581703	1.00[LWK][hapmap]
rs12042270	1.00[LWK][hapmap]
rs12138655	1.00[LWK][hapmap]
rs12727567	1.00[LWK][hapmap]
rs12744045	1.00[LWK][hapmap]
rs2233851	1.00[LWK][hapmap]

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	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
2	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
3	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
4	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription 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	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
2	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
3	chr1:151228600-151244400	Weak transcription	Fetal Heart	heart
4	chr1:151230600-151244400	Strong transcription	Fetal Stomach	stomach
5	chr1:151231200-151243200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:151231800-151243400	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:151232800-151244400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:151232800-151244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:151233800-151242800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:151233800-151243200	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr1:151233800-151244400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:151234000-151243200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:151234000-151244400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:151234000-151245000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:151234200-151243200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:151234200-151243200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:151234200-151244000	Strong transcription	Fetal Muscle Leg	muscle
18	chr1:151234200-151244200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:151234200-151244200	Strong transcription	Placenta	Placenta
20	chr1:151234200-151244400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr1:151234200-151244600	Strong transcription	Fetal Thymus	thymus
22	chr1:151234200-151245000	Strong transcription	Fetal Intestine Small	intestine
23	chr1:151234400-151243000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:151234400-151243600	Strong transcription	Adipose Nuclei	Adipose
25	chr1:151234600-151243000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:151234600-151243200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:151234600-151243200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:151234600-151243200	Strong transcription	Lung	lung
29	chr1:151234600-151243200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:151234600-151243600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:151234600-151243800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:151234600-151244200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:151234600-151244200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:151234600-151244400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr1:151234600-151244400	Strong transcription	Osteobl	bone
36	chr1:151234600-151246800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:151234800-151243200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:151235000-151253400	Weak transcription	Stomach Mucosa	stomach
39	chr1:151236400-151244200	Strong transcription	Brain Cingulate Gyrus	brain
40	chr1:151237400-151243000	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr1:151237600-151253200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr1:151237800-151242400	Weak transcription	NHDF-Ad	bronchial
43	chr1:151237800-151243200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:151238000-151243200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr1:151239000-151253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:151239400-151253400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:151239800-151245000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:151239800-151245400	Strong transcription	Liver	Liver
49	chr1:151240200-151253400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr1:151240400-151247800	Weak transcription	Primary B cells from cord blood	blood

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