Variant report

Variant	rs565988124
Chromosome Location	chr5:179718293-179718294
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB7A	chr5:179718075-179719777	ECC-1	luminal epithelium:	n/a	chr5:179718679-179718688
2	MAZ	chr5:179717708-179721036	IMR90	lung:	n/a	chr5:179719295-179719302 chr5:179718302-179718312
3	ZBTB7A	chr5:179718292-179719881	ECC-1	luminal epithelium:	n/a	chr5:179718679-179718688
4	ELF1	chr5:179718226-179719886	GM12878	blood:	n/a	chr5:179718858-179718867
5	MXI1	chr5:179718153-179719950	IMR90	lung:	n/a	n/a
6	RCOR1	chr5:179718078-179718539	Hela-S3	cervix:	n/a	n/a
7	ZBTB7A	chr5:179718094-179719743	K562	blood:	n/a	chr5:179718679-179718688
8	MXI1	chr5:179717374-179720894	SK-N-SH	brain:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179717698..179720150-chr5:179758033..179760822,3	MCF-7	breast:
2	chr5:179683447..179685223-chr5:179718038..179720496,2	MCF-7	breast:
3	chr5:179716385..179718922-chr5:179921407..179923351,3	MCF-7	breast:
4	chr5:179718120..179720283-chr5:180227933..180230146,2	MCF-7	breast:
5	chr5:179718232..179719781-chr5:179756949..179759059,2	MCF-7	breast:
6	chr20:46275666..46278048-chr5:179716451..179718791,2	MCF-7	breast:
7	chr5:179633482..179636303-chr5:179718045..179719781,2	K562	blood:
8	chr19:1747829..1748422-chr5:179718198..179718965,2	Hela-S3	cervix:
9	chr5:179718262..179720717-chr5:180237170..180239607,2	MCF-7	breast:
10	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
11	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:
12	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000146090	Chromatin interaction
ENSG00000253908	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000267073	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000131446	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	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:179716200-179718600	Enhancers	Stomach Mucosa	stomach
3	chr5:179716800-179718400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:179717000-179718400	Enhancers	Spleen	Spleen
5	chr5:179717200-179718400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:179717200-179718400	Flanking Active TSS	Dnd41	blood
7	chr5:179717200-179718600	Enhancers	Fetal Heart	heart
8	chr5:179717400-179718600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr5:179717600-179718400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr5:179717600-179718400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr5:179717600-179718600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:179717600-179718600	Flanking Active TSS	Fetal Brain Male	brain
13	chr5:179717600-179718600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr5:179717600-179719600	Active TSS	Colonic Mucosa	Colon
15	chr5:179717600-179720000	Active TSS	Brain Germinal Matrix	brain
16	chr5:179717600-179720200	Active TSS	NH-A	brain
17	chr5:179717600-179720200	Active TSS	NHLF	lung
18	chr5:179717600-179720600	Active TSS	Aorta	Aorta
19	chr5:179717800-179718400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:179717800-179718400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr5:179717800-179718600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr5:179717800-179718600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:179717800-179718600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr5:179717800-179718600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr5:179717800-179718600	Flanking Active TSS	Fetal Thymus	thymus
26	chr5:179717800-179718600	Flanking Active TSS	Thymus	Thymus
27	chr5:179717800-179720000	Active TSS	Right Ventricle	heart
28	chr5:179717800-179720200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr5:179717800-179720400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:179717800-179720400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:179717800-179720600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:179717800-179720600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:179717800-179720600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:179718000-179718400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:179718000-179718400	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr5:179718000-179718400	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr5:179718000-179718400	Enhancers	Lung	lung
38	chr5:179718000-179718400	Flanking Active TSS	Ovary	ovary
39	chr5:179718000-179718600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:179718000-179718600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr5:179718000-179720000	Active TSS	Gastric	stomach
42	chr5:179718000-179720200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:179718000-179720200	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr5:179718000-179720200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr5:179718000-179720200	Active TSS	Fetal Intestine Small	intestine
46	chr5:179718000-179720200	Active TSS	A549	lung
47	chr5:179718000-179720200	Active TSS	NHDF-Ad	bronchial
48	chr5:179718000-179720400	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr5:179718000-179720600	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr5:179718200-179718400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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