Variant report

Variant	rs61748798
Chromosome Location	chr5:179192458-179192459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL1	chr5:179192327-179192860	K562	blood:	n/a	n/a
2	POLR2A	chr5:179192387-179192837	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:179192011-179193003	U87	brain:	n/a	n/a
4	EP300	chr5:179192452-179192734	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr5:179192340-179192490	HBMEC	blood vessel:	n/a	n/a
6	JUND	chr5:179192226-179193009	SK-N-SH	brain:	n/a	n/a
7	FOSL2	chr5:179192296-179192969	SK-N-SH	brain:	n/a	n/a
8	JUND	chr5:179191936-179193177	SK-N-SH	brain:	n/a	n/a
9	FOS	chr5:179192448-179192805	MCF10A-Er-Src	breast:	n/a	chr5:179192623-179192634
10	TAF1	chr5:179192422-179192799	SK-N-SH	brain:	n/a	n/a
11	FOS	chr5:179192412-179192803	MCF10A-Er-Src	breast:	n/a	chr5:179192623-179192634
12	MYC	chr5:179192450-179192810	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr5:179192072-179192997	U87	brain:	n/a	n/a
14	JUN	chr5:179192455-179192809	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr5:179191945-179193053	SK-N-SH	brain:	n/a	n/a
16	MAX	chr5:179192404-179192888	K562	blood:	n/a	n/a
17	CTCF	chr5:179192340-179192490	HCFaa	heart:	n/a	n/a
18	MAX	chr5:179192402-179192941	SK-N-SH	brain:	n/a	n/a
19	FOSL2	chr5:179192457-179192914	SK-N-SH	brain:	n/a	n/a
20	MAFK	chr5:179192458-179192682	IMR90	lung:	n/a	n/a
21	POLR2A	chr5:179192448-179192754	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr5:179192066-179192881	U87	brain:	n/a	n/a
23	YY1	chr5:179191888-179192867	SK-N-SH	brain:	n/a	chr5:179192176-179192186
24	POLR2A	chr5:179191688-179193979	K562	blood:	n/a	n/a
25	MYC	chr5:179192457-179192776	HUVEC	blood vessel:	n/a	n/a
26	NFIC	chr5:179191815-179192840	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr5:179192362-179192858	PFSK-1	brain:	n/a	n/a
28	YY1	chr5:179192413-179192721	SK-N-SH_RA	brain:	n/a	n/a
29	FOS	chr5:179192448-179192807	MCF10A-Er-Src	breast:	n/a	chr5:179192623-179192634
30	TCF12	chr5:179191917-179193796	SK-N-SH	brain:	n/a	n/a
31	FOS	chr5:179192387-179193040	HUVEC	blood vessel:	n/a	chr5:179192623-179192634
32	POLR2A	chr5:179192424-179192909	HUVEC	blood vessel:	n/a	n/a
33	FOS	chr5:179192448-179192890	MCF10A-Er-Src	breast:	n/a	chr5:179192623-179192634
34	PBX3	chr5:179192254-179192925	SK-N-SH	brain:	n/a	n/a
35	NFIC	chr5:179191709-179193023	SK-N-SH	brain:	n/a	n/a
36	SIN3AK20	chr5:179192332-179192833	SK-N-SH	brain:	n/a	n/a
37	REST	chr5:179192335-179192798	SK-N-SH	brain:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179146141..179147702-chr5:179190620..179192713,2	MCF-7	breast:
2	chr5:179183483..179185130-chr5:179191548..179193650,2	K562	blood:
3	chr5:179191657..179193161-chr5:179232412..179234419,2	MCF-7	breast:
4	chr5:179049249..179052064-chr5:179191348..179193515,2	K562	blood:
5	chr5:179191220..179194008-chr5:179228937..179231114,2	K562	blood:
6	chr5:179192355..179194197-chr5:179212856..179215229,2	MCF-7	breast:
7	chr5:179159859..179161740-chr5:179192124..179194566,2	MCF-7	breast:
8	chr1:149223298..149225446-chr5:179192233..179193754,3	MCF-7	breast:
9	chr5:179189180..179191928-chr5:179192012..179195048,3	K562	blood:
10	chr1:149223791..149225452-chr5:179192234..179193753,4	MCF-7	breast:
11	chr5:179190740..179195492-chr5:179198923..179204539,8	MCF-7	breast:
12	chr5:179192430..179194832-chr5:179221034..179223075,2	MCF-7	breast:
13	chr5:179190822..179197512-chr5:179244986..179249382,7	K562	blood:
14	chr5:179189945..179192800-chr5:179216394..179217969,2	K562	blood:
15	chr5:179173901..179176407-chr5:179192308..179193832,2	MCF-7	breast:
16	chr5:179186999..179190414-chr5:179192166..179194492,3	MCF-7	breast:
17	chr5:179190290..179192462-chr5:179193480..179197848,5	MCF-7	breast:
18	chr5:179188774..179192649-chr5:179245020..179250577,7	K562	blood:

No data

Variant related genes	Relation type
MAML1	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000161013	Chromatin interaction
ENSG00000161021	Chromatin interaction
ENSG00000161011	Chromatin interaction
ENSG00000213316	Chromatin interaction
ENSG00000169045	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12108962	1.00[AMR][1000 genomes]
rs12109504	1.00[AMR][1000 genomes]
rs28365147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179183200-179192600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:179186000-179192600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr5:179188000-179192600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:179188600-179192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:179188600-179192600	Enhancers	Liver	Liver
6	chr5:179188600-179193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:179188600-179193000	Enhancers	HMEC	breast
8	chr5:179188600-179193600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:179188800-179192600	Enhancers	Brain Angular Gyrus	brain
10	chr5:179188800-179192600	Enhancers	Colon Smooth Muscle	Colon
11	chr5:179188800-179193600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:179189600-179193000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:179189800-179192600	Enhancers	HSMM	muscle
14	chr5:179189800-179192600	Enhancers	NHEK	skin
15	chr5:179189800-179194000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr5:179190200-179192600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:179190400-179192600	Enhancers	Left Ventricle	heart
18	chr5:179190400-179192800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:179190600-179192600	Enhancers	Fetal Brain Male	brain
20	chr5:179190600-179193200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:179190600-179194800	Enhancers	Right Atrium	heart
22	chr5:179190800-179207600	Strong transcription	Dnd41	blood
23	chr5:179191000-179192600	Weak transcription	Primary B cells from cord blood	blood
24	chr5:179191000-179192600	Weak transcription	Stomach Mucosa	stomach
25	chr5:179191000-179192800	Genic enhancers	Fetal Muscle Leg	muscle
26	chr5:179191000-179193200	Genic enhancers	K562	blood
27	chr5:179191000-179193800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:179191000-179203000	Weak transcription	Psoas Muscle	Psoas
29	chr5:179191200-179192600	Weak transcription	Gastric	stomach
30	chr5:179191200-179192600	Weak transcription	Pancreas	Pancrea
31	chr5:179191200-179192800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:179191200-179195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179191200-179196000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr5:179191200-179210400	Strong transcription	Thymus	Thymus
35	chr5:179191400-179193000	Weak transcription	Aorta	Aorta
36	chr5:179191800-179193200	Enhancers	Fetal Heart	heart
37	chr5:179191800-179193400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:179191800-179193400	Genic enhancers	Esophagus	oesophagus
39	chr5:179191800-179193400	Strong transcription	Fetal Intestine Small	intestine
40	chr5:179192000-179192600	Genic enhancers	Spleen	Spleen
41	chr5:179192000-179192800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:179192000-179192800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr5:179192000-179192800	Enhancers	Right Ventricle	heart
44	chr5:179192000-179192800	Flanking Active TSS	Osteobl	bone
45	chr5:179192000-179193000	Genic enhancers	Fetal Stomach	stomach
46	chr5:179192000-179193000	Genic enhancers	Hela-S3	cervix
47	chr5:179192000-179193200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:179192000-179193400	Genic enhancers	Lung	lung
49	chr5:179192000-179193600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:179192000-179193600	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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