Variant report

Variant	rs12082922
Chromosome Location	chr1:149898180-149898181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:149859850..149860755-chr1:149898121..149899362,3	MCF-7	breast:
2	chr1:149897446..149899303-chr1:150157322..150158854,2	K562	blood:
3	chr1:149819882..149821722-chr1:149898116..149899646,2	MCF-7	breast:
4	chr1:149896924..149901430-chr1:149978916..149983998,7	MCF-7	breast:
5	chr1:149820332..149822757-chr1:149897925..149900178,4	MCF-7	breast:
6	chr1:149897715..149899381-chr1:149937367..149939579,2	MCF-7	breast:
7	chr1:149897900..149900101-chr1:150038034..150041085,3	K562	blood:
8	chr1:149813582..149820276-chr1:149898052..149903861,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183558	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000136631	Chromatin interaction
ENSG00000163113	Chromatin interaction
ENSG00000203819	Chromatin interaction
ENSG00000272993	Chromatin interaction
ENSG00000203812	Chromatin interaction
ENSG00000220323	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12072695	1.00[AFR][1000 genomes]
rs12083986	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432820	chr1:148921404-149920927	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	784 gene(s)	inside rSNPs	diseases
2	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149890000-149898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:149893400-149898200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:149893400-149898200	Strong transcription	Thymus	Thymus
4	chr1:149893600-149898200	Strong transcription	NH-A	brain
5	chr1:149893600-149898400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:149894000-149898200	Strong transcription	NHDF-Ad	bronchial
7	chr1:149894200-149898200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr1:149894400-149898200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:149894400-149898200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:149894400-149898200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:149894400-149898400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:149894400-149898600	Strong transcription	H9 Cell Line	embryonic stem cell
13	chr1:149894600-149898600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:149894600-149898600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:149894800-149898200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:149895400-149898400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:149895800-149898600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr1:149896400-149898200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:149896400-149898200	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr1:149896400-149898800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:149896600-149898200	Genic enhancers	Colon Smooth Muscle	Colon
22	chr1:149896600-149898200	Genic enhancers	HMEC	breast
23	chr1:149896600-149898400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:149896600-149898400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:149896600-149898400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:149896600-149898400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr1:149896600-149898600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr1:149896600-149898800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr1:149896600-149898800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:149896600-149898800	Genic enhancers	Brain Angular Gyrus	brain
31	chr1:149896800-149898600	Genic enhancers	Brain Anterior Caudate	brain
32	chr1:149897000-149898200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:149897000-149898600	Genic enhancers	Liver	Liver
34	chr1:149897000-149899000	Weak transcription	Aorta	Aorta
35	chr1:149897200-149898200	Genic enhancers	Small Intestine	intestine
36	chr1:149897200-149898600	Genic enhancers	Primary T cells from cord blood	blood
37	chr1:149897200-149898600	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:149897200-149898800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:149897200-149898800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:149897200-149898800	Genic enhancers	Fetal Stomach	stomach
41	chr1:149897200-149899000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr1:149897400-149898200	Genic enhancers	Fetal Lung	lung
43	chr1:149897400-149898600	Weak transcription	HSMMtube	muscle
44	chr1:149897400-149898800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:149897400-149898800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr1:149897400-149899000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr1:149897600-149898200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:149897600-149898200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:149897600-149898200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr1:149897600-149898200	Genic enhancers	Skeletal Muscle Male	skeletal muscle

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