Variant report

Variant	rs576007819
Chromosome Location	chr5:179717169-179717170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr5:179716514-179717340	HEK293-T-REx	kidney:	n/a	chr5:179716714-179716723 chr5:179716700-179716721
2	POLR2A	chr5:179716996-179717266	HepG2	liver:	n/a	n/a
3	TCF12	chr5:179716344-179717188	MCF-7	breast:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179715940..179718137-chr5:179891672..179893899,2	MCF-7	breast:
2	chr5:179716385..179718922-chr5:179921407..179923351,3	MCF-7	breast:
3	chr5:179716694..179718257-chr5:179740990..179742816,2	MCF-7	breast:
4	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
5	chr5:179716091..179718097-chr5:179718228..179720650,3	MCF-7	breast:
6	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
7	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
8	chr5:179715674..179717304-chr5:179721521..179723626,2	K562	blood:
9	chr5:179616220..179617824-chr5:179714865..179717440,2	MCF-7	breast:
10	chr5:179635600..179638547-chr5:179713821..179718130,5	MCF-7	breast:
11	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000248367	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000146090	Chromatin interaction
ENSG00000050748	Chromatin interaction
ENSG00000131459	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	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	esv2758032	chr5:179534477-179729944	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv2759398	chr5:179534477-179729944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
8	nsv883290	chr5:179712060-179818868	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3398259	chr5:179717146-179721444	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
3	chr5:179703000-179717400	Weak transcription	NHLF	lung
4	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
5	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:179706600-179717200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:179706600-179717200	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:179707200-179717200	Weak transcription	NHDF-Ad	bronchial
12	chr5:179707400-179717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
14	chr5:179708000-179717200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr5:179708200-179717200	Weak transcription	HSMM	muscle
16	chr5:179708400-179717400	Weak transcription	Osteobl	bone
17	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:179710000-179717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:179710400-179717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:179710400-179717200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:179710400-179717800	Weak transcription	Right Ventricle	heart
23	chr5:179710600-179717200	Weak transcription	Adipose Nuclei	Adipose
24	chr5:179710600-179717200	Weak transcription	Brain Germinal Matrix	brain
25	chr5:179710600-179717200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:179710600-179717400	Weak transcription	Fetal Intestine Large	intestine
27	chr5:179710800-179717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:179710800-179717200	Weak transcription	Placenta	Placenta
29	chr5:179711400-179717200	Weak transcription	Fetal Thymus	thymus
30	chr5:179711400-179717200	Weak transcription	Right Atrium	heart
31	chr5:179711600-179717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:179711600-179717600	Weak transcription	Aorta	Aorta
33	chr5:179711600-179718000	Weak transcription	Lung	lung
34	chr5:179712200-179717200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:179712400-179717400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:179712400-179717600	Weak transcription	NH-A	brain
37	chr5:179712400-179717800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:179712600-179717200	Weak transcription	Brain Angular Gyrus	brain
39	chr5:179712600-179717200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:179712600-179717200	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:179712600-179717200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:179712600-179717600	Weak transcription	Brain Substantia Nigra	brain
43	chr5:179712800-179717200	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:179713800-179717200	Weak transcription	Fetal Stomach	stomach
45	chr5:179713800-179717200	Weak transcription	Hela-S3	cervix
46	chr5:179714000-179717200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr5:179714000-179717200	Weak transcription	Thymus	Thymus
48	chr5:179714000-179717400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:179714000-179717600	Weak transcription	Primary B cells from cord blood	blood
50	chr5:179714200-179717200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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