Variant report

Variant	rs145240194
Chromosome Location	chr1:150526141-150526142
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150525748-150526497	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:150522961-150527432	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr1:150526110-150526621	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:150523206-150526233	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr1:150526106-150526703	K562	blood:	n/a	n/a
6	POLR2A	chr1:150520901-150527655	K562	blood:	n/a	n/a
7	POLR2A	chr1:150521554-150527416	K562	blood:	n/a	n/a
8	POLR2A	chr1:150523899-150527453	K562	blood:	n/a	n/a
9	POLR2A	chr1:150521814-150527516	K562	blood:	n/a	n/a
10	POLR2A	chr1:150526136-150526468	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:150525725-150526521	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:150520973-150527524	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150524590..150529971-chr1:150532220..150535147,6	MCF-7	breast:
2	chr1:150523106..150526873-chr1:150601148..150603781,4	K562	blood:
3	chr1:150525634..150527613-chr1:150540715..150543005,2	MCF-7	breast:
4	chr1:150477731..150480329-chr1:150524886..150527200,2	K562	blood:
5	chr1:150488004..150490276-chr1:150524720..150527758,3	K562	blood:
6	chr1:150444253..150446450-chr1:150524781..150526459,2	MCF-7	breast:
7	chr1:150487509..150490227-chr1:150524920..150527758,2	K562	blood:
8	chr1:150521298..150527553-chr1:150548198..150553572,10	MCF-7	breast:
9	chr1:150479471..150482388-chr1:150523973..150526628,2	K562	blood:
10	chr1:150525936..150528012-chr1:150866007..150868752,2	MCF-7	breast:
11	chr1:150525142..150527669-chr1:150783785..150786516,2	MCF-7	breast:
12	chr1:150457583..150461907-chr1:150523895..150528793,6	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTSL4	TF binding region
ENSG00000143374	Chromatin interaction
ENSG00000200175	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143369	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000264584	Chromatin interaction

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

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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases
4	esv3341981	chr1:150526128-150530326	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150521600-150532600	Weak transcription	Brain Angular Gyrus	brain
2	chr1:150522000-150526400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:150522400-150532800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:150522600-150526200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:150522600-150530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:150522600-150531200	Weak transcription	Brain Substantia Nigra	brain
7	chr1:150522600-150532200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:150522800-150526200	Enhancers	Primary B cells from cord blood	blood
9	chr1:150522800-150526200	Enhancers	Liver	Liver
10	chr1:150522800-150526400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:150522800-150526600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:150522800-150527200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:150522800-150527400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:150522800-150528000	Weak transcription	Aorta	Aorta
15	chr1:150522800-150532200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:150523000-150526400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:150523200-150526200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:150523200-150528000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:150523400-150526200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:150524000-150527800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:150524000-150532600	Weak transcription	Primary T cells from cord blood	blood
22	chr1:150524200-150526600	Enhancers	Colon Smooth Muscle	Colon
23	chr1:150524200-150527200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:150524400-150527200	Genic enhancers	Fetal Muscle Leg	muscle
25	chr1:150524600-150526400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:150524600-150526400	Enhancers	HMEC	breast
27	chr1:150524600-150527200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:150524600-150532000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:150524600-150532600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr1:150524600-150532600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr1:150524800-150526200	Enhancers	Stomach Mucosa	stomach
32	chr1:150524800-150528000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:150524800-150531800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:150524800-150532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:150525000-150528000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:150525000-150531000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:150525200-150526400	Enhancers	Adipose Nuclei	Adipose
38	chr1:150525200-150526800	Weak transcription	Fetal Brain Female	brain
39	chr1:150525200-150527800	Weak transcription	Gastric	stomach
40	chr1:150525200-150528600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:150525200-150528800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:150525400-150526200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr1:150525400-150526200	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:150525400-150526600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr1:150525400-150527800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:150525400-150528000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr1:150525400-150528000	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr1:150525400-150528000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:150525400-150528000	Weak transcription	Fetal Kidney	kidney
50	chr1:150525400-150528200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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