Variant report

Variant	rs26533
Chromosome Location	chr5:115174658-115174659
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:115174650-115174985	A549	lung:	n/a	n/a
2	BATF	chr5:115174644-115175032	GM12878	blood:	n/a	n/a
3	RAD21	chr5:115174594-115175097	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr5:115174493-115175410	SK-N-SH	brain:	n/a	n/a
5	MYBL2	chr5:115174598-115175138	HepG2	liver:	n/a	n/a
6	RAD21	chr5:115174636-115175109	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:115174466-115174736	HepG2	liver:	n/a	n/a
8	ZNF384	chr5:115174419-115175095	GM12878	blood:	n/a	n/a
9	RAD21	chr5:115174602-115175304	HCT-116	colon:	n/a	n/a
10	ZNF384	chr5:115174586-115175084	K562	blood:	n/a	n/a
11	RAD21	chr5:115174650-115175071	MCF-7	breast:	n/a	n/a
12	POLR2A	chr5:115174488-115174848	ProgFib	skin:	n/a	n/a
13	RCOR1	chr5:115174586-115174956	K562	blood:	n/a	n/a
14	RAD21	chr5:115174643-115175106	HepG2	liver:	n/a	n/a
15	CTCF	chr5:115174500-115175320	SK-N-SH	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114969969..114970967-chr5:115174408..115175088,5	MCF-7	breast:
2	chr5:114970575..114971098-chr5:115174433..115174988,2	K562	blood:
3	chr5:114959789..114964126-chr5:115174280..115179155,11	MCF-7	breast:

No data

Variant related genes	Relation type
AP3S1	TF binding region
ATG12	TF binding region
ENSG00000243414	Chromatin interaction
ENSG00000134970	Chromatin interaction
ENSG00000251201	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10434761	0.93[ASN][1000 genomes]
rs1058600	0.96[ASN][1000 genomes]
rs11241336	0.80[ASN][1000 genomes]
rs12189155	0.81[ASN][1000 genomes]
rs12517882	0.80[ASN][1000 genomes]
rs12520248	0.93[ASN][1000 genomes]
rs12521324	0.84[ASN][1000 genomes]
rs13157716	0.80[ASN][1000 genomes]
rs13174348	0.85[ASN][1000 genomes]
rs152368	0.81[ASN][1000 genomes]
rs152369	0.80[ASN][1000 genomes]
rs152397	0.80[ASN][1000 genomes]
rs152398	0.82[ASN][1000 genomes]
rs154757	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs154759	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2080902	0.80[ASN][1000 genomes]
rs26529	0.81[ASN][1000 genomes]
rs26531	0.92[ASN][1000 genomes]
rs26534	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26535	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26536	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs26537	0.88[ASN][1000 genomes]
rs26538	0.81[ASN][1000 genomes]
rs34850	0.85[ASN][1000 genomes]
rs34851	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34852	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34869	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35053218	0.88[ASN][1000 genomes]
rs35179959	0.96[ASN][1000 genomes]
rs35501287	0.81[ASN][1000 genomes]
rs35903246	0.94[ASN][1000 genomes]
rs3797570	0.97[ASN][1000 genomes]
rs40095	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57633641	0.98[ASN][1000 genomes]
rs59750231	0.80[ASN][1000 genomes]
rs61381571	0.81[ASN][1000 genomes]
rs6594906	0.98[ASN][1000 genomes]
rs6872406	0.94[ASN][1000 genomes]
rs6880889	0.96[ASN][1000 genomes]
rs7713314	0.81[ASN][1000 genomes]
rs7726368	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv949677	chr5:115104829-115496168	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr5:115161800-115176200	Weak transcription	Gastric	stomach
2	chr5:115162000-115176200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:115162000-115176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:115162600-115175600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:115163000-115176400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:115166600-115175200	Weak transcription	Fetal Intestine Small	intestine
7	chr5:115166600-115175600	Weak transcription	Small Intestine	intestine
8	chr5:115166800-115175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:115168400-115176400	Weak transcription	Aorta	Aorta
10	chr5:115170400-115175600	Weak transcription	Right Ventricle	heart
11	chr5:115172800-115174800	Strong transcription	Fetal Stomach	stomach
12	chr5:115173400-115174800	Weak transcription	Fetal Intestine Large	intestine
13	chr5:115173400-115175000	Weak transcription	Fetal Kidney	kidney
14	chr5:115173400-115175200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr5:115173400-115175200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:115173400-115175400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:115173400-115175400	Weak transcription	HSMMtube	muscle
18	chr5:115173400-115176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:115173400-115176400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr5:115173600-115175000	Enhancers	Colon Smooth Muscle	Colon
21	chr5:115173800-115175000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:115173800-115176200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr5:115174000-115174800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:115174000-115174800	Genic enhancers	Fetal Thymus	thymus
25	chr5:115174000-115174800	Genic enhancers	A549	lung
26	chr5:115174000-115175000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:115174000-115175000	Enhancers	Fetal Brain Male	brain
28	chr5:115174000-115175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:115174000-115175200	Enhancers	Psoas Muscle	Psoas
30	chr5:115174000-115175200	Enhancers	Hela-S3	cervix
31	chr5:115174000-115175600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr5:115174000-115175800	Enhancers	Primary B cells from peripheral blood	blood
33	chr5:115174000-115176000	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr5:115174000-115176000	Enhancers	Stomach Mucosa	stomach
35	chr5:115174000-115176000	Flanking Active TSS	HepG2	liver
36	chr5:115174000-115176200	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr5:115174000-115176200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:115174000-115176200	Enhancers	Brain Substantia Nigra	brain
39	chr5:115174000-115176200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr5:115174200-115174800	Enhancers	Osteobl	bone
41	chr5:115174200-115175000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:115174200-115175400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:115174200-115175600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:115174200-115175800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:115174200-115176200	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr5:115174200-115176200	Genic enhancers	Primary B cells from cord blood	blood
47	chr5:115174200-115176200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr5:115174200-115176600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:115174200-115176600	Flanking Active TSS	Dnd41	blood
50	chr5:115174400-115174800	Enhancers	H1 Cell Line	embryonic stem cell

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