Variant report

Variant	rs12070466
Chromosome Location	chr1:151007574-151007575
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:151007571-151007996	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150998140..151000140-chr1:151006157..151007783,2	K562	blood:
2	chr1:151005028..151012583-chr1:151026392..151034442,13	K562	blood:
3	chr1:150997115..151004935-chr1:151005196..151010372,8	MCF-7	breast:
4	chr1:150979416..150982558-chr1:151006468..151010604,5	MCF-7	breast:
5	chr1:151006355..151008407-chr1:151010213..151012473,2	MCF-7	breast:

No data

Variant related genes	Relation type
BNIPL	TF binding region
ENSG00000197622	Chromatin interaction
ENSG00000143363	Chromatin interaction
ENSG00000163141	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143409	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11204764	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150982000-151009000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:150989800-151010400	Strong transcription	Fetal Stomach	stomach
3	chr1:150996200-151008400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:150996600-151009200	Strong transcription	Fetal Intestine Large	intestine
5	chr1:150996600-151009800	Strong transcription	Fetal Intestine Small	intestine
6	chr1:150997000-151007800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:150997000-151008000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:150997000-151008200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr1:150997200-151008000	Strong transcription	Dnd41	blood
10	chr1:150997400-151008000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:150997400-151008000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:150997400-151008000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:150997400-151008200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:150997400-151008400	Strong transcription	Fetal Muscle Trunk	muscle
15	chr1:150997400-151009400	Strong transcription	Fetal Thymus	thymus
16	chr1:150997400-151009800	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:150997600-151008000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:150997600-151008000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:150997600-151008200	Strong transcription	Adipose Nuclei	Adipose
20	chr1:150997600-151008800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:150997600-151009400	Strong transcription	Liver	Liver
22	chr1:150997600-151015400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:150997600-151019800	Weak transcription	HUVEC	blood vessel
24	chr1:150997800-151008400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:150997800-151019800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:150998000-151008000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:150998800-151008000	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:150999200-151008000	Strong transcription	Ovary	ovary
29	chr1:150999200-151010000	Strong transcription	Fetal Brain Female	brain
30	chr1:150999400-151008000	Strong transcription	Brain Germinal Matrix	brain
31	chr1:150999400-151008200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr1:151000000-151019800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:151000000-151019800	Weak transcription	NHLF	lung
34	chr1:151000200-151019800	Weak transcription	Small Intestine	intestine
35	chr1:151001600-151009000	Weak transcription	Esophagus	oesophagus
36	chr1:151002600-151007800	Strong transcription	Spleen	Spleen
37	chr1:151003000-151011400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:151003200-151009400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:151003800-151019800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:151004200-151009000	Weak transcription	K562	blood
41	chr1:151004400-151011400	Weak transcription	NHDF-Ad	bronchial
42	chr1:151004400-151015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:151004400-151019800	Weak transcription	Fetal Kidney	kidney
44	chr1:151005800-151008000	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:151005800-151009400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:151006000-151008000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:151006000-151008000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:151006000-151008000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:151006000-151008000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr1:151006000-151008000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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