Variant report

Variant	rs7544066
Chromosome Location	chr1:46725580-46725581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:46725571-46725595	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46711538..46715530-chr1:46724242..46729029,6	K562	blood:
2	chr1:46724735..46727744-chr1:46766521..46769175,3	K562	blood:

Variant related genes	Relation type
RAD54L	TF binding region
ENSG00000085999	Chromatin interaction
ENSG00000132128	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28363216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs664606	1.00[AMR][1000 genomes]
rs7528900	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv470711	chr1:46660295-46810530	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv829748	chr1:46724508-46876122	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46713600-46743600	Weak transcription	Aorta	Aorta
2	chr1:46713800-46743400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:46714000-46726000	Weak transcription	Brain Anterior Caudate	brain
4	chr1:46714000-46731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:46714200-46726200	Weak transcription	Brain Angular Gyrus	brain
6	chr1:46714200-46726200	Weak transcription	Esophagus	oesophagus
7	chr1:46714200-46726600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:46714200-46729200	Weak transcription	Placenta	Placenta
9	chr1:46714200-46743200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:46714200-46743400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:46714200-46743400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:46714200-46743600	Weak transcription	Gastric	stomach
13	chr1:46714200-46743800	Weak transcription	Right Atrium	heart
14	chr1:46714400-46726000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:46714400-46727000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:46714400-46736200	Weak transcription	Fetal Lung	lung
17	chr1:46714400-46743400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:46714400-46745400	Weak transcription	Fetal Brain Male	brain
19	chr1:46714400-46745600	Weak transcription	Fetal Kidney	kidney
20	chr1:46714400-46754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:46714600-46736400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:46714600-46748600	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:46714600-46749600	Weak transcription	Fetal Heart	heart
24	chr1:46714800-46725800	Weak transcription	Fetal Brain Female	brain
25	chr1:46714800-46726000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:46714800-46726400	Weak transcription	Osteobl	bone
27	chr1:46714800-46728400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:46714800-46748400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:46715000-46725600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:46715000-46726400	Weak transcription	Fetal Intestine Large	intestine
31	chr1:46715000-46740800	Strong transcription	Fetal Stomach	stomach
32	chr1:46715000-46752800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr1:46715200-46743400	Weak transcription	Spleen	Spleen
34	chr1:46715200-46748000	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr1:46715200-46748400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:46715200-46764200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:46715400-46725600	Weak transcription	Brain Germinal Matrix	brain
38	chr1:46715400-46748200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:46715400-46748400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:46715400-46748400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:46715400-46753000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr1:46715400-46754200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:46715400-46763800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:46715400-46764400	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:46715400-46765600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:46716000-46749400	Strong transcription	Fetal Thymus	thymus
47	chr1:46716200-46742800	Strong transcription	K562	blood
48	chr1:46716400-46725800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:46717200-46748000	Strong transcription	Thymus	Thymus
50	chr1:46718000-46727000	Weak transcription	NH-A	brain

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