Variant report

Variant	rs55975034
Chromosome Location	chr1:150537775-150537776
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:150527732-150552686	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr1:150530622-150553130	IMR90	lung:	n/a	n/a
3	POLR2A	chr1:150532058-150538177	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:150530539-150552850	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr1:150537758-150538668	K562	blood:	n/a	n/a
6	POLR2A	chr1:150537734-150538584	K562	blood:	n/a	n/a
7	POLR2A	chr1:150537656-150538109	K562	blood:	n/a	n/a
8	POLR2A	chr1:150531141-150552175	A549	lung:	n/a	n/a
9	POLR2A	chr1:150537747-150538092	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150488041..150489716-chr1:150536057..150538087,2	MCF-7	breast:
2	chr1:150336838..150338667-chr1:150536131..150537830,2	MCF-7	breast:
3	chr1:150531290..150540028-chr1:150591374..150603951,29	MCF-7	breast:
4	chr1:150536175..150539015-chr1:151037065..151039505,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTSL4-AS1	TF binding region
ENSG00000228126	Chromatin interaction
ENSG00000143420	Chromatin interaction
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11204667	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3795702	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4971044	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57263353	0.81[ASN][1000 genomes]
rs58550476	0.94[AMR][1000 genomes];1.00[ASN][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	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
2	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
3	nsv527379	chr1:150527354-150542128	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv535155	chr1:150535349-150582395	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150534400-150539200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:150534400-150547200	Weak transcription	Ovary	ovary
3	chr1:150534600-150539200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:150534600-150540200	Enhancers	Pancreas	Pancrea
5	chr1:150534600-150542600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:150534600-150542600	Enhancers	Lung	lung
7	chr1:150534800-150538400	Flanking Active TSS	GM12878-XiMat	blood
8	chr1:150534800-150539800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:150534800-150540400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr1:150535000-150538400	Enhancers	HMEC	breast
11	chr1:150535000-150539800	Enhancers	Fetal Lung	lung
12	chr1:150535000-150540000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:150535000-150540200	Enhancers	Left Ventricle	heart
14	chr1:150535000-150542200	Enhancers	Placenta	Placenta
15	chr1:150535200-150538000	Enhancers	Colon Smooth Muscle	Colon
16	chr1:150535200-150539800	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:150535200-150540000	Enhancers	Fetal Intestine Large	intestine
18	chr1:150535200-150540000	Enhancers	Psoas Muscle	Psoas
19	chr1:150535200-150540000	Enhancers	Right Atrium	heart
20	chr1:150535200-150541000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:150535200-150541800	Enhancers	Small Intestine	intestine
22	chr1:150535400-150537800	Enhancers	Brain Hippocampus Middle	brain
23	chr1:150535400-150539000	Enhancers	Fetal Muscle Leg	muscle
24	chr1:150535400-150539600	Enhancers	Liver	Liver
25	chr1:150535400-150539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:150535400-150540200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:150535400-150540400	Enhancers	Fetal Heart	heart
28	chr1:150535600-150540200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:150535800-150538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:150535800-150538200	Enhancers	Osteobl	bone
31	chr1:150535800-150539800	Enhancers	HSMMtube	muscle
32	chr1:150536000-150538000	Enhancers	Thymus	Thymus
33	chr1:150536000-150540800	Enhancers	Stomach Mucosa	stomach
34	chr1:150536400-150538400	Enhancers	Adipose Nuclei	Adipose
35	chr1:150536400-150539000	Weak transcription	Esophagus	oesophagus
36	chr1:150536400-150539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:150536400-150539400	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:150536600-150537800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:150536600-150538200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:150536600-150538800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:150536600-150539000	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr1:150536600-150539000	Enhancers	Fetal Intestine Small	intestine
43	chr1:150536600-150539200	Enhancers	Primary hematopoietic stem cells	blood
44	chr1:150536600-150539400	Weak transcription	Brain Angular Gyrus	brain
45	chr1:150536600-150539400	Enhancers	Colonic Mucosa	Colon
46	chr1:150536600-150539600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:150536600-150539600	Enhancers	Fetal Thymus	thymus
48	chr1:150536600-150539800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:150536600-150540600	Weak transcription	Fetal Brain Female	brain
50	chr1:150536800-150537800	Enhancers	Hela-S3	cervix

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