Variant report

Variant	rs11555908
Chromosome Location	chr5:112197082-112197083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:463)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112196591-112197293	K562	blood:	n/a	n/a
2	ELK1	chr5:112196616-112197113	K562	blood:	n/a	n/a
3	POLR2A	chr5:112196532-112197461	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr5:112196589-112197351	MCF-7	breast:	n/a	n/a
5	ATF2	chr5:112196495-112197247	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:112196558-112197337	HL-60	blood:	n/a	n/a
7	MYC	chr5:112196532-112197159	MCF10A-Er-Src	breast:	n/a	n/a
8	GABPA	chr5:112196423-112197466	SK-N-SH	brain:	n/a	n/a
9	IRF3	chr5:112196773-112197086	GM12878	blood:	n/a	n/a
10	BCL3	chr5:112196455-112197385	A549	lung:	n/a	n/a
11	SIN3AK20	chr5:112196666-112197362	SK-N-SH	brain:	n/a	n/a
12	CHD2	chr5:112196468-112197406	H1-hESC	embryonic stem cell:	n/a	chr5:112196847-112196856
13	CREB1	chr5:112196580-112197227	H1-hESC	embryonic stem cell:	n/a	chr5:112196869-112196882
14	CBX3	chr5:112196279-112197366	K562	blood:	n/a	n/a
15	POLR2A	chr5:112196363-112197431	GM12892	blood:	n/a	n/a
16	MXI1	chr5:112196631-112197204	K562	blood:	n/a	n/a
17	YY1	chr5:112196632-112197084	HCT-116	colon:	n/a	n/a
18	BCLAF1	chr5:112196651-112197489	K562	blood:	n/a	chr5:112197479-112197488
19	MAX	chr5:112196476-112197401	K562	blood:	n/a	n/a
20	SP1	chr5:112196577-112197173	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZBTB33	chr5:112196582-112197138	HCT-116	colon:	n/a	chr5:112196842-112196857 chr5:112196847-112196856
22	REST	chr5:112196621-112197090	K562	blood:	n/a	n/a
23	YY1	chr5:112196657-112197292	GM12891	blood:	n/a	n/a
24	ZBTB33	chr5:112196377-112197197	A549	lung:	n/a	chr5:112196842-112196857 chr5:112196847-112196856
25	JUND	chr5:112196653-112197115	HepG2	liver:	n/a	n/a
26	TAF1	chr5:112196621-112197122	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr5:112196467-112197248	SK-N-MC	brain:	n/a	n/a
28	TBL1XR1	chr5:112196535-112197388	K562	blood:	n/a	n/a
29	MAX	chr5:112196518-112197271	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr5:112195942-112197882	GM12891	blood:	n/a	n/a
31	CTCF	chr5:112197060-112197210	HUVEC	blood vessel:	n/a	n/a
32	MAX	chr5:112196570-112197174	HUVEC	blood vessel:	n/a	n/a
33	YY1	chr5:112196598-112197234	ECC-1	luminal epithelium:	n/a	n/a
34	ZBTB7A	chr5:112197003-112197286	K562	blood:	n/a	n/a
35	ATF3	chr5:112196492-112197292	A549	lung:	n/a	n/a
36	ZBTB33	chr5:112196555-112197082	K562	blood:	n/a	chr5:112196842-112196857 chr5:112196847-112196856
37	PML	chr5:112196557-112197301	MCF-7	breast:	n/a	n/a
38	YY1	chr5:112196633-112197354	ECC-1	luminal epithelium:	n/a	n/a
39	TAF1	chr5:112196538-112197459	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr5:112196595-112197261	K562	blood:	n/a	n/a
41	TAL1	chr5:112196629-112197223	K562	blood:	n/a	n/a
42	GABPA	chr5:112196648-112197252	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:112196541-112197279	SK-N-SH	brain:	n/a	n/a
44	SIN3AK20	chr5:112196749-112197161	PANC-1	pancreas:	n/a	n/a
45	MAX	chr5:112196381-112197370	K562	blood:	n/a	n/a
46	POLR2A	chr5:112196526-112197483	PANC-1	pancreas:	n/a	n/a
47	TAF7	chr5:112196638-112197145	H1-hESC	embryonic stem cell:	n/a	n/a
48	HEY1	chr5:112196578-112197296	K562	blood:	n/a	n/a
49	ETS1	chr5:112196726-112197297	K562	blood:	n/a	chr5:112196966-112196982 chr5:112196958-112196975 chr5:112196966-112196975 chr5:112196966-112196975 chr5:112196847-112196856 chr5:112196965-112196978
50	RFX5	chr5:112196629-112197434	Hela-S3	cervix:	n/a	chr5:112197328-112197341

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:112196028..112199860-chr5:112256680..112260462,5	MCF-7	breast:
2	chr5:112195906..112198557-chr5:112198644..112200582,4	MCF-7	breast:
3	chr5:112195408..112199487-chr5:112199566..112202603,4	K562	blood:
4	chr5:112195538..112198310-chr5:112312375..112313895,2	K562	blood:
5	chr5:112195332..112197808-chr5:112240725..112243513,2	K562	blood:
6	chr5:112196605..112197414-chr7:43965796..43966543,2	NB4	blood:
7	chr5:112196670..112199465-chr5:112228539..112231018,2	K562	blood:
8	chr5:112041706..112044186-chr5:112195413..112197519,3	MCF-7	breast:
9	chr5:112196983..112197664-chr5:112257709..112258331,2	Hela-S3	cervix:
10	chr5:112196139..112198613-chr5:112233393..112236476,4	K562	blood:
11	chr5:112152202..112156283-chr5:112195630..112198484,4	MCF-7	breast:
12	chr5:112195239..112200315-chr5:112255126..112261929,8	MCF-7	breast:
13	chr5:112196522..112198362-chr5:112219263..112221236,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272869	TF binding region
SRP19	TF binding region
ENSG00000078967	Chromatin interaction
ENSG00000134982	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000106608	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000270067	Chromatin interaction
ENSG00000249947	Chromatin interaction
ENSG00000153037	Chromatin interaction
ENSG00000272389	Chromatin interaction
ENSG00000266499	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10058561	1.00[EUR][1000 genomes]
rs10515446	1.00[JPT][hapmap]
rs10519333	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11950612	1.00[JPT][hapmap]
rs12189	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs13360640	1.00[EUR][1000 genomes]
rs17135066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135070	1.00[EUR][1000 genomes]
rs17135100	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17135108	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17135117	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17135149	1.00[EUR][1000 genomes]
rs17135155	1.00[EUR][1000 genomes]
rs17164132	1.00[JPT][hapmap]
rs1734242	1.00[JPT][hapmap]
rs1804197	0.85[ASN][1000 genomes]
rs2304793	1.00[JPT][hapmap]
rs2707761	1.00[JPT][hapmap]
rs2900065	1.00[AFR][1000 genomes]
rs3733961	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3733963	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3822652	1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs3822654	1.00[EUR][1000 genomes]
rs3892986	1.00[EUR][1000 genomes]
rs57726881	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57749964	1.00[EUR][1000 genomes]
rs58625991	1.00[EUR][1000 genomes]
rs58865195	1.00[EUR][1000 genomes]
rs59349522	1.00[EUR][1000 genomes]
rs6594652	1.00[EUR][1000 genomes]
rs6864403	1.00[EUR][1000 genomes]
rs6891448	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs728344	1.00[EUR][1000 genomes]
rs73227382	1.00[EUR][1000 genomes]
rs73227383	1.00[EUR][1000 genomes]
rs7703438	1.00[JPT][hapmap]
rs7706623	1.00[JPT][hapmap]
rs7728109	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7728481	1.00[EUR][1000 genomes]
rs7729562	0.87[ASN][1000 genomes]
rs7730241	1.00[EUR][1000 genomes]
rs7735121	1.00[EUR][1000 genomes]
rs9687790	1.00[EUR][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	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv599394	chr5:112185491-112446323	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv870231	chr5:112192379-112247084	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 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	chr5:112196000-112198000	Active TSS	GM12878-XiMat	blood
2	chr5:112196200-112197800	Active TSS	Brain Angular Gyrus	brain
3	chr5:112196200-112197800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:112196200-112197800	Active TSS	Rectal Smooth Muscle	rectum
5	chr5:112196200-112198200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr5:112196200-112198200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:112196400-112197400	Active TSS	Primary hematopoietic stem cells	blood
8	chr5:112196400-112197600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr5:112196400-112197600	Active TSS	Brain Germinal Matrix	brain
10	chr5:112196400-112197600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr5:112196400-112197600	Active TSS	Brain Substantia Nigra	brain
12	chr5:112196400-112197800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr5:112196400-112197800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:112196400-112197800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:112196400-112197800	Active TSS	Colonic Mucosa	Colon
16	chr5:112196400-112197800	Active TSS	Fetal Brain Female	brain
17	chr5:112196400-112197800	Active TSS	Placenta	Placenta
18	chr5:112196400-112197800	Active TSS	Fetal Stomach	stomach
19	chr5:112196400-112197800	Active TSS	Gastric	stomach
20	chr5:112196400-112197800	Active TSS	Ovary	ovary
21	chr5:112196400-112197800	Active TSS	Psoas Muscle	Psoas
22	chr5:112196400-112198000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr5:112196400-112198000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:112196400-112198000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr5:112196400-112198000	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr5:112196400-112198000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:112196400-112198000	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr5:112196400-112198000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:112196400-112198000	Active TSS	Aorta	Aorta
30	chr5:112196400-112198000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr5:112196400-112198000	Active TSS	Esophagus	oesophagus
32	chr5:112196400-112198000	Active TSS	Fetal Kidney	kidney
33	chr5:112196400-112198000	Active TSS	Lung	lung
34	chr5:112196400-112198000	Active TSS	Right Atrium	heart
35	chr5:112196400-112198000	Active TSS	NHDF-Ad	bronchial
36	chr5:112196400-112198200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:112196400-112198200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr5:112196400-112198200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr5:112196400-112198200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:112196400-112198200	Active TSS	HSMM	muscle
41	chr5:112196400-112198200	Active TSS	HSMMtube	muscle
42	chr5:112196400-112198400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:112196400-112198400	Active TSS	Pancreas	Pancrea
44	chr5:112196400-112198600	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr5:112196400-112198600	Active TSS	Right Ventricle	heart
46	chr5:112196600-112197400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:112196600-112197600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:112196600-112197600	Active TSS	Liver	Liver
49	chr5:112196600-112197600	Active TSS	Brain Hippocampus Middle	brain
50	chr5:112196600-112197600	Active TSS	Sigmoid Colon	Sigmoid Colon

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