Variant report

Variant	rs192793596
Chromosome Location	chr5:179717981-179717982
allele	A/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	MAZ	chr5:179717708-179721036	IMR90	lung:	n/a	chr5:179719295-179719302 chr5:179718302-179718312
2	STAT3	chr5:179717911-179718040	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr5:179717374-179720894	SK-N-SH	brain:	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	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
3	chr5:179716385..179718922-chr5:179921407..179923351,3	MCF-7	breast:
4	chr5:179716694..179718257-chr5:179740990..179742816,2	MCF-7	breast:
5	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
6	chr5:179716091..179718097-chr5:179718228..179720650,3	MCF-7	breast:
7	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
8	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
9	chr5:179635600..179638547-chr5:179713821..179718130,5	MCF-7	breast:
10	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:
11	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000146090	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000050748	Chromatin interaction
ENSG00000248367	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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
10	nsv830563	chr5:179717693-179898609	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv10787	chr5:179717724-179732388	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	esv3437532	chr5:179717871-179720719	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv3443745	chr5:179717971-179720219	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:179711600-179718000	Weak transcription	Lung	lung
5	chr5:179716200-179718600	Enhancers	Stomach Mucosa	stomach
6	chr5:179716400-179718000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:179716400-179718000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr5:179716600-179718000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:179716600-179718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:179716600-179718000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:179716600-179718000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:179716600-179718000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:179716600-179718000	Enhancers	Esophagus	oesophagus
14	chr5:179716600-179718000	Enhancers	Fetal Lung	lung
15	chr5:179716600-179718000	Enhancers	Psoas Muscle	Psoas
16	chr5:179716800-179718000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr5:179716800-179718000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr5:179716800-179718400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:179717000-179718000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr5:179717000-179718000	Enhancers	Ovary	ovary
21	chr5:179717000-179718400	Enhancers	Spleen	Spleen
22	chr5:179717200-179718000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr5:179717200-179718000	Enhancers	Fetal Muscle Leg	muscle
24	chr5:179717200-179718000	Enhancers	Placenta	Placenta
25	chr5:179717200-179718000	Enhancers	Fetal Stomach	stomach
26	chr5:179717200-179718000	Enhancers	Small Intestine	intestine
27	chr5:179717200-179718000	Enhancers	HSMM	muscle
28	chr5:179717200-179718200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr5:179717200-179718200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr5:179717200-179718200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr5:179717200-179718200	Flanking Active TSS	Fetal Brain Female	brain
32	chr5:179717200-179718200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr5:179717200-179718200	Flanking Active TSS	GM12878-XiMat	blood
34	chr5:179717200-179718200	Flanking Active TSS	Hela-S3	cervix
35	chr5:179717200-179718400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr5:179717200-179718400	Flanking Active TSS	Dnd41	blood
37	chr5:179717200-179718600	Enhancers	Fetal Heart	heart
38	chr5:179717400-179718000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:179717400-179718000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:179717400-179718000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:179717400-179718000	Enhancers	Fetal Intestine Large	intestine
42	chr5:179717400-179718000	Weak transcription	Gastric	stomach
43	chr5:179717400-179718200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:179717400-179718200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:179717400-179718200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:179717400-179718200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:179717400-179718200	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:179717400-179718200	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr5:179717400-179718200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr5:179717400-179718200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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