Variant report

Variant	rs553698834
Chromosome Location	chr5:77938396-77938397
allele	A/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	WRNIP1	chr5:77938343-77938819	GM12878	blood:	n/a	n/a
3	POLR2A	chr5:77938246-77939033	HepG2	liver:	n/a	n/a
4	CTCF	chr5:77938320-77938470	GM12872	blood:	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: 9 )
Associated
traits (count: 0)

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	chr5:77932400-77938600	Enhancers	Fetal Intestine Large	intestine
4	chr5:77933800-77940600	Weak transcription	Placenta	Placenta
5	chr5:77933800-77941400	Weak transcription	Right Atrium	heart
6	chr5:77933800-77943200	Weak transcription	Esophagus	oesophagus
7	chr5:77934600-77940600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:77934600-77942400	Weak transcription	Colonic Mucosa	Colon
9	chr5:77935000-77938400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:77935200-77940400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:77935200-77942000	Weak transcription	Right Ventricle	heart
12	chr5:77935200-77942600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:77935400-77942000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:77935400-77942600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr5:77936000-77942600	Weak transcription	Fetal Brain Female	brain
16	chr5:77936600-77939000	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:77936600-77939000	Enhancers	Pancreas	Pancrea
18	chr5:77936800-77940400	Weak transcription	Brain Anterior Caudate	brain
19	chr5:77936800-77940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:77936800-77940800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:77937000-77939000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:77937000-77940400	Weak transcription	Hela-S3	cervix
23	chr5:77937000-77940600	Weak transcription	Aorta	Aorta
24	chr5:77937000-77942600	Weak transcription	Left Ventricle	heart
25	chr5:77937000-77942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr5:77937000-77943200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:77937000-77943200	Weak transcription	Psoas Muscle	Psoas
28	chr5:77937200-77938400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr5:77937200-77938400	Weak transcription	Fetal Stomach	stomach
30	chr5:77937200-77938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:77937200-77938600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:77937200-77938600	Weak transcription	Lung	lung
33	chr5:77937200-77938600	Weak transcription	Ovary	ovary
34	chr5:77937200-77939400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr5:77937200-77940000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:77937200-77940200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:77937200-77940200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:77937200-77940200	Weak transcription	Brain Substantia Nigra	brain
39	chr5:77937200-77940200	Weak transcription	Colon Smooth Muscle	Colon
40	chr5:77937200-77940200	Weak transcription	HSMMtube	muscle
41	chr5:77937200-77940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:77937200-77940400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:77937200-77940400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:77937200-77940400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr5:77937200-77940600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:77937200-77940600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:77937200-77940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:77937200-77940600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:77937200-77940600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:77937200-77940600	Weak transcription	Stomach Mucosa	stomach

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