Variant report

Variant	rs73769042
Chromosome Location	chr5:77938838-77938839
allele	C/G
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	chr5:77938021-77939048	A549	lung:	n/a	n/a
2	RCOR1	chr5:77938524-77938907	HepG2	liver:	n/a	n/a
3	SPI1	chr5:77938534-77938839	GM12891	blood:	n/a	chr5:77938691-77938704 chr5:77938693-77938702
4	POLR2A	chr5:77938623-77938846	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELF1	chr5:77938552-77938846	K562	blood:	n/a	chr5:77938690-77938703
6	POLR2A	chr5:77938246-77939033	HepG2	liver:	n/a	n/a
7	ELF1	chr5:77938477-77938883	HepG2	liver:	n/a	chr5:77938690-77938703
8	CHD2	chr5:77938743-77938943	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:77784933..77786634-chr5:77938068..77939590,2	K562	blood:
2	chr5:77932938..77939935-chr5:77942023..77946135,10	MCF-7	breast:

Variant related genes	Relation type
LHFPL2	TF binding region
ENSG00000145685	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73769041	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522738	chr5:77434730-78063683	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3522739	chr5:77434730-78063683	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv949530	chr5:77830403-78477017	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv830356	chr5:77847022-78011999	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1021768	chr5:77881915-78465489	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv2762527	chr5:77921199-78548196	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv1792242	chr5:77927033-77966625	Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv1841124	chr5:77937453-77944988	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv528833	chr5:77937453-78016860	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:77928200-77942400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:77931000-77942800	Weak transcription	K562	blood
3	chr5:77933800-77940600	Weak transcription	Placenta	Placenta
4	chr5:77933800-77941400	Weak transcription	Right Atrium	heart
5	chr5:77933800-77943200	Weak transcription	Esophagus	oesophagus
6	chr5:77934600-77940600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:77934600-77942400	Weak transcription	Colonic Mucosa	Colon
8	chr5:77935200-77940400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:77935200-77942000	Weak transcription	Right Ventricle	heart
10	chr5:77935200-77942600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:77935400-77942000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:77935400-77942600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:77936000-77942600	Weak transcription	Fetal Brain Female	brain
14	chr5:77936600-77939000	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:77936600-77939000	Enhancers	Pancreas	Pancrea
16	chr5:77936800-77940400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:77936800-77940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:77936800-77940800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:77937000-77939000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:77937000-77940400	Weak transcription	Hela-S3	cervix
21	chr5:77937000-77940600	Weak transcription	Aorta	Aorta
22	chr5:77937000-77942600	Weak transcription	Left Ventricle	heart
23	chr5:77937000-77942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:77937000-77943200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:77937000-77943200	Weak transcription	Psoas Muscle	Psoas
26	chr5:77937200-77939400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr5:77937200-77940000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:77937200-77940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:77937200-77940200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:77937200-77940200	Weak transcription	Brain Substantia Nigra	brain
31	chr5:77937200-77940200	Weak transcription	Colon Smooth Muscle	Colon
32	chr5:77937200-77940200	Weak transcription	HSMMtube	muscle
33	chr5:77937200-77940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr5:77937200-77940400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:77937200-77940400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:77937200-77940400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:77937200-77940600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:77937200-77940600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:77937200-77940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr5:77937200-77940600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:77937200-77940600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:77937200-77940600	Weak transcription	Stomach Mucosa	stomach
43	chr5:77937200-77940600	Weak transcription	NH-A	brain
44	chr5:77937200-77940600	Strong transcription	NHEK	skin
45	chr5:77937200-77940800	Weak transcription	NHDF-Ad	bronchial
46	chr5:77937200-77940800	Weak transcription	Osteobl	bone
47	chr5:77937200-77941200	Weak transcription	Adipose Nuclei	Adipose
48	chr5:77937200-77942000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:77937200-77942000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr5:77937200-77942000	Weak transcription	Fetal Heart	heart

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