Variant report

Variant	rs61784561
Chromosome Location	chr1:46671850-46671851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:46671342..46673324-chr1:46681676..46684162,2	K562	blood:
2	chr1:46663620..46666134-chr1:46670331..46672069,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085998	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11584024	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11584436	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12047449	0.85[EUR][1000 genomes]
rs2234270	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61784560	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46669400-46676000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:46669800-46672000	Enhancers	K562	blood
3	chr1:46670200-46672600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:46670200-46672800	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr1:46670200-46676400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:46670200-46677800	Enhancers	Placenta	Placenta
7	chr1:46670400-46672000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:46670400-46672000	Enhancers	Right Atrium	heart
9	chr1:46670400-46672400	Enhancers	Left Ventricle	heart
10	chr1:46670400-46673200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr1:46670400-46685400	Weak transcription	Aorta	Aorta
12	chr1:46670400-46685400	Weak transcription	Brain Germinal Matrix	brain
13	chr1:46670400-46689000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:46670400-46689400	Weak transcription	HSMM	muscle
15	chr1:46670600-46672000	Enhancers	NHDF-Ad	bronchial
16	chr1:46670600-46672200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:46670600-46672200	Weak transcription	Fetal Brain Female	brain
18	chr1:46670600-46672600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:46670600-46672600	Enhancers	Brain Hippocampus Middle	brain
20	chr1:46670600-46672600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:46670600-46672600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:46670600-46672800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:46670600-46673000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:46670600-46673000	Enhancers	Brain Cingulate Gyrus	brain
25	chr1:46670600-46673400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr1:46670600-46675400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:46670600-46677800	Weak transcription	Lung	lung
28	chr1:46670600-46680400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:46670600-46684000	Weak transcription	Fetal Stomach	stomach
30	chr1:46670600-46684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:46670600-46687200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:46670600-46689400	Weak transcription	Osteobl	bone
33	chr1:46670800-46672000	Enhancers	Ovary	ovary
34	chr1:46671000-46672000	Enhancers	Hela-S3	cervix
35	chr1:46671000-46672600	Enhancers	Esophagus	oesophagus
36	chr1:46671000-46689400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr1:46671200-46672000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr1:46671200-46672000	Enhancers	Stomach Smooth Muscle	stomach
39	chr1:46671200-46672000	Enhancers	HMEC	breast
40	chr1:46671200-46672200	Enhancers	Colon Smooth Muscle	Colon
41	chr1:46671200-46672400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:46671200-46672600	Enhancers	Brain Substantia Nigra	brain
43	chr1:46671400-46672000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:46671400-46672000	Enhancers	Right Ventricle	heart
45	chr1:46671400-46672000	Enhancers	Spleen	Spleen
46	chr1:46671400-46672400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:46671600-46672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:46671600-46672000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:46671600-46672000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr1:46671600-46672200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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