Variant report

Variant	rs272441
Chromosome Location	chr5:179301260-179301261
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:5)
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	POLR2A	chr5:179301163-179301709	GM12892	blood:	n/a	n/a
2	POLR2A	chr5:179301250-179301261	K562	blood:	n/a	n/a
3	POLR2A	chr5:179301059-179301870	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179294097..179296495-chr5:179297933..179301525,5	K562	blood:
2	chr5:179246845..179249765-chr5:179300235..179304181,3	MCF-7	breast:
3	chr5:179290040..179292104-chr5:179300801..179303635,2	K562	blood:
4	chr5:179289788..179295879-chr5:179298486..179302200,7	MCF-7	breast:
5	chr5:179299225..179301692-chr5:179321391..179324247,2	MCF-7	breast:

No data

Variant related genes	Relation type
TBC1D9B	TF binding region
ENSG00000161011	Chromatin interaction
ENSG00000197226	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs152234	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
7	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
9	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
10	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
11	nsv883286	chr5:179290845-179313656	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:179286200-179310600	Weak transcription	Stomach Mucosa	stomach
2	chr5:179286400-179303000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:179286600-179310600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:179286600-179310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:179286600-179311400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr5:179287200-179333600	Weak transcription	Right Atrium	heart
7	chr5:179287800-179302200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:179287800-179310000	Weak transcription	Fetal Brain Male	brain
9	chr5:179288400-179308400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:179288400-179308400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:179288400-179310600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:179289000-179306800	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr5:179289000-179307000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:179289000-179308800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:179289000-179309200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:179289200-179303400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:179289200-179303800	Strong transcription	Pancreas	Pancrea
18	chr5:179289200-179305000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:179289200-179307000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:179289200-179307800	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:179289200-179308600	Strong transcription	Liver	Liver
22	chr5:179289200-179308600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:179289200-179308800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:179289200-179309200	Strong transcription	Fetal Brain Female	brain
25	chr5:179289400-179306800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr5:179289400-179307400	Strong transcription	Primary T cells from cord blood	blood
27	chr5:179289400-179307600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr5:179289400-179308200	Strong transcription	Dnd41	blood
29	chr5:179289400-179308400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:179289400-179308400	Strong transcription	Ovary	ovary
31	chr5:179289400-179308400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr5:179289400-179308400	Strong transcription	Thymus	Thymus
33	chr5:179289400-179309400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:179289600-179303000	Strong transcription	Colonic Mucosa	Colon
35	chr5:179289600-179308800	Strong transcription	Brain Germinal Matrix	brain
36	chr5:179289600-179328000	Strong transcription	Adipose Nuclei	Adipose
37	chr5:179289800-179303800	Strong transcription	NHLF	lung
38	chr5:179289800-179306800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:179289800-179308400	Strong transcription	Lung	lung
40	chr5:179290200-179307800	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr5:179290200-179308600	Strong transcription	Fetal Intestine Small	intestine
42	chr5:179290400-179308800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:179290400-179309600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:179291000-179308400	Strong transcription	Fetal Intestine Large	intestine
45	chr5:179291200-179308600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:179292200-179303000	Weak transcription	Fetal Kidney	kidney
47	chr5:179292600-179302000	Weak transcription	Hela-S3	cervix
48	chr5:179292800-179306400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr5:179292800-179308400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr5:179293400-179304000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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