Variant report

Variant	rs4274946
Chromosome Location	chr5:179718189-179718190
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 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	MXI1	chr5:179718153-179719950	IMR90	lung:	n/a	n/a
4	RCOR1	chr5:179718078-179718539	Hela-S3	cervix:	n/a	n/a
5	ZBTB7A	chr5:179718094-179719743	K562	blood:	n/a	chr5:179718679-179718688
6	MXI1	chr5:179717374-179720894	SK-N-SH	brain:	n/a	n/a

No data

(count:10 , 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	chr5:179716694..179718257-chr5:179740990..179742816,2	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	chr5:179695378..179696983-chr5:179716689..179718636,2	K562	blood:
9	chr5:179716122..179718666-chr5:179757910..179760029,2	K562	blood:
10	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000248367	TF binding region
ENSG00000131459	Chromatin interaction
ENSG00000131446	Chromatin interaction
ENSG00000253908	Chromatin interaction
ENSG00000146090	Chromatin interaction
ENSG00000113300	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	chr5:179717200-179718200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:179717200-179718200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr5:179717200-179718200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr5:179717200-179718200	Flanking Active TSS	Fetal Brain Female	brain
9	chr5:179717200-179718200	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr5:179717200-179718200	Flanking Active TSS	GM12878-XiMat	blood
11	chr5:179717200-179718200	Flanking Active TSS	Hela-S3	cervix
12	chr5:179717200-179718400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr5:179717200-179718400	Flanking Active TSS	Dnd41	blood
14	chr5:179717200-179718600	Enhancers	Fetal Heart	heart
15	chr5:179717400-179718200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:179717400-179718200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:179717400-179718200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr5:179717400-179718200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:179717400-179718200	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:179717400-179718200	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr5:179717400-179718200	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr5:179717400-179718200	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr5:179717400-179718200	Flanking Active TSS	HepG2	liver
24	chr5:179717400-179718200	Flanking Active TSS	NHEK	skin
25	chr5:179717400-179718600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr5:179717600-179718200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:179717600-179718200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:179717600-179718200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr5:179717600-179718200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr5:179717600-179718200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr5:179717600-179718200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:179717600-179718200	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr5:179717600-179718200	Flanking Active TSS	Liver	Liver
34	chr5:179717600-179718200	Flanking Active TSS	K562	blood
35	chr5:179717600-179718400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr5:179717600-179718400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr5:179717600-179718600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:179717600-179718600	Flanking Active TSS	Fetal Brain Male	brain
39	chr5:179717600-179718600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr5:179717600-179719600	Active TSS	Colonic Mucosa	Colon
41	chr5:179717600-179720000	Active TSS	Brain Germinal Matrix	brain
42	chr5:179717600-179720200	Active TSS	NH-A	brain
43	chr5:179717600-179720200	Active TSS	NHLF	lung
44	chr5:179717600-179720600	Active TSS	Aorta	Aorta
45	chr5:179717800-179718200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:179717800-179718200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr5:179717800-179718200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:179717800-179718200	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr5:179717800-179718200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:179717800-179718200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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