Variant report

Variant	rs6877064
Chromosome Location	chr5:179238794-179238795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr5:179238220-179238897	K562	blood:	n/a	n/a
2	POLR2A	chr5:179238226-179238811	K562	blood:	n/a	n/a
3	POLR2A	chr5:179238106-179238919	K562	blood:	n/a	n/a
4	IRF1	chr5:179238306-179238831	K562	blood:	n/a	n/a
5	TBP	chr5:179238272-179238876	K562	blood:	n/a	n/a
6	EP300	chr5:179238390-179238842	K562	blood:	n/a	n/a
7	POLR2A	chr5:179238132-179238899	K562	blood:	n/a	n/a
8	POLR2A	chr5:179238194-179238876	K562	blood:	n/a	n/a
9	PML	chr5:179238236-179238915	K562	blood:	n/a	n/a
10	POLR2A	chr5:179238750-179238813	HepG2	liver:	n/a	n/a
11	UBTF	chr5:179238578-179238920	K562	blood:	n/a	n/a
12	CUX1	chr5:179238729-179238799	K562	blood:	n/a	n/a
13	POLR2A	chr5:179238188-179238890	K562	blood:	n/a	n/a
14	POLR2A	chr5:179238263-179238819	K562	blood:	n/a	n/a
15	TEAD4	chr5:179238277-179238909	K562	blood:	n/a	n/a
16	RCOR1	chr5:179238264-179238856	K562	blood:	n/a	n/a
17	MAZ	chr5:179238249-179238848	K562	blood:	n/a	n/a
18	YY1	chr5:179238320-179238878	K562	blood:	n/a	n/a
19	POLR2A	chr5:179238101-179238967	K562	blood:	n/a	n/a
20	CBX3	chr5:179238100-179238861	K562	blood:	n/a	n/a
21	TAF1	chr5:179238224-179238888	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
MGAT4B	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10054477	0.82[ASN][1000 genomes]
rs10516140	0.85[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs11738962	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs11742873	0.84[ASN][1000 genomes]
rs13360957	0.89[ASN][1000 genomes]
rs166624	0.80[CHB][hapmap]
rs2890060	0.81[ASN][1000 genomes]
rs4504352	0.81[ASN][1000 genomes]
rs4700839	0.82[CHD][hapmap];0.85[JPT][hapmap]
rs4700842	0.87[ASN][1000 genomes]
rs4701197	0.85[JPT][hapmap]
rs6627	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs6871140	0.87[ASN][1000 genomes]
rs6879613	0.85[JPT][hapmap]
rs7566	0.85[JPT][hapmap]
rs7723450	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
10	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
11	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
12	nsv883280	chr5:179220010-179238794	Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
13	nsv883281	chr5:179220010-179250500	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
14	nsv883284	chr5:179220638-179246415	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	158 gene(s)	inside rSNPs	diseases
15	nsv883285	chr5:179223023-179238794	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	153 gene(s)	inside rSNPs	diseases
16	nsv600668	chr5:179227865-179242581	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv988291	chr5:179233076-179240737	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	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
19	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6877064	PRR7	cis	cerebellum	SCAN
rs6877064	CANX	cis	parietal	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179233400-179244400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:179234400-179243800	Weak transcription	Aorta	Aorta
3	chr5:179234600-179239000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:179234600-179239200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179234600-179239200	Weak transcription	Brain Anterior Caudate	brain
6	chr5:179234600-179239200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:179234600-179239200	Weak transcription	Ovary	ovary
8	chr5:179234600-179239200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:179234600-179239200	Weak transcription	NHLF	lung
10	chr5:179234600-179239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:179234600-179239400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:179234600-179241000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:179234600-179241000	Weak transcription	Fetal Lung	lung
14	chr5:179234600-179241200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:179234600-179242800	Weak transcription	Esophagus	oesophagus
16	chr5:179234600-179242800	Weak transcription	Gastric	stomach
17	chr5:179234600-179243600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:179234600-179243600	Weak transcription	Brain Substantia Nigra	brain
19	chr5:179234600-179243600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:179234600-179243800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:179234600-179244000	Weak transcription	NHDF-Ad	bronchial
22	chr5:179234600-179244200	Weak transcription	NHEK	skin
23	chr5:179234600-179245200	Weak transcription	HSMMtube	muscle
24	chr5:179234600-179245800	Weak transcription	Fetal Kidney	kidney
25	chr5:179234800-179239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:179234800-179239000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:179234800-179239200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:179234800-179239200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr5:179234800-179239400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:179234800-179239400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:179234800-179243600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:179234800-179243600	Weak transcription	Brain Angular Gyrus	brain
33	chr5:179234800-179243600	Weak transcription	Osteobl	bone
34	chr5:179235000-179239200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:179235000-179240000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:179235000-179241400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr5:179235000-179243600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:179235000-179243600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:179235000-179243600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr5:179235200-179239200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:179235200-179239200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr5:179235200-179239200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:179235200-179239200	Weak transcription	Fetal Muscle Leg	muscle
44	chr5:179235200-179239800	Weak transcription	HSMM	muscle
45	chr5:179235200-179242600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr5:179235200-179243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr5:179235200-179243400	Weak transcription	Right Atrium	heart
48	chr5:179235200-179243600	Weak transcription	Brain Hippocampus Middle	brain
49	chr5:179235400-179239000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:179235400-179239000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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