Variant report

Variant	rs17134162
Chromosome Location	chr5:111496598-111496599
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:594)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:111496258-111497754	K562	blood:	n/a	n/a
2	JUND	chr5:111496011-111497089	HCT-116	colon:	n/a	n/a
3	TCF12	chr5:111496343-111496686	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:111496225-111497753	Hela-S3	cervix:	n/a	n/a
5	KAP1	chr5:111496252-111497476	K562	blood:	n/a	chr5:111497367-111497375
6	MAX	chr5:111496339-111497191	K562	blood:	n/a	n/a
7	RAD21	chr5:111496284-111497023	H1-hESC	embryonic stem cell:	n/a	n/a
8	YY1	chr5:111496209-111496828	HepG2	liver:	n/a	n/a
9	PAX5	chr5:111496232-111496686	GM12878	blood:	n/a	n/a
10	SPI1	chr5:111496305-111496811	HL-60	blood:	n/a	n/a
11	FOXA2	chr5:111496180-111496874	A549	lung:	n/a	n/a
12	CTCF	chr5:111496298-111496609	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:111496152-111496855	HUVEC	blood vessel:	n/a	n/a
14	SIN3AK20	chr5:111496019-111497316	MCF-7	breast:	n/a	n/a
15	MAX	chr5:111496196-111497358	K562	blood:	n/a	n/a
16	TCF12	chr5:111496119-111497030	ECC-1	luminal epithelium:	n/a	n/a
17	ETS1	chr5:111496530-111496823	K562	blood:	n/a	n/a
18	PAX5	chr5:111496333-111496714	GM12892	blood:	n/a	n/a
19	NFIC	chr5:111496211-111497009	HepG2	liver:	n/a	n/a
20	POLR2A	chr5:111496121-111497076	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:111496147-111497649	HepG2	liver:	n/a	n/a
22	TAF1	chr5:111496320-111496693	SK-N-SH	brain:	n/a	n/a
23	E2F4	chr5:111496282-111496625	GM12878	blood:	n/a	n/a
24	CTCF	chr5:111496285-111496609	Kidney_OC	kidney:	n/a	n/a
25	MAX	chr5:111496217-111496980	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr5:111496140-111497755	HCT-116	colon:	n/a	n/a
27	TAF1	chr5:111496352-111496874	GM12892	blood:	n/a	n/a
28	FOXA1	chr5:111496334-111496652	ECC-1	luminal epithelium:	n/a	n/a
29	FOXA1	chr5:111496291-111496710	T-47D	breast:	n/a	n/a
30	RAD21	chr5:111496235-111496848	IMR90	lung:	n/a	n/a
31	POLR2A	chr5:111496340-111497650	GM12892	blood:	n/a	n/a
32	HEY1	chr5:111496305-111497779	K562	blood:	n/a	n/a
33	CEBPB	chr5:111496404-111496810	HepG2	liver:	n/a	n/a
34	POLR2A	chr5:111496220-111497651	GM12891	blood:	n/a	n/a
35	SP1	chr5:111496176-111496737	H1-hESC	embryonic stem cell:	n/a	n/a
36	EP300	chr5:111496098-111496951	GM12878	blood:	n/a	n/a
37	RAD21	chr5:111496168-111496707	ECC-1	luminal epithelium:	n/a	n/a
38	NFYA	chr5:111496331-111496675	Hela-S3	cervix:	n/a	n/a
39	SMARCB1	chr5:111495895-111497310	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:111496264-111497589	GM12892	blood:	n/a	n/a
41	POLR2A	chr5:111496196-111503843	GM12878	blood:	n/a	n/a
42	KAP1	chr5:111496105-111497373	HEK293	kidney:	n/a	n/a
43	EP300	chr5:111496328-111497442	K562	blood:	n/a	n/a
44	TCF7L2	chr5:111496276-111496744	HEK293	kidney:	n/a	n/a
45	EP300	chr5:111496182-111496759	MCF-7	breast:	n/a	n/a
46	ELK1	chr5:111496322-111496741	K562	blood:	n/a	n/a
47	REST	chr5:111496296-111496743	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr5:111496176-111497825	PFSK-1	brain:	n/a	n/a
49	E2F6	chr5:111496520-111496792	K562	blood:	n/a	n/a
50	MAX	chr5:111496198-111497248	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:111496550-111496600	HAEpiC	amniotic membrane:	n/a
2	chr5:111496550-111496600	IMR90	lung:	fetal
3	chr5:111496550-111496600	HCPEpiC	choroid plexus:	n/a
4	chr5:111496550-111496600	SK-N-SH	brain:	n/a
5	chr5:111496550-111496600	BJ	skin:	n/a
6	chr5:111496550-111496600	U87	brain:	n/a
7	chr5:111496550-111496600	HRPEpiC	eye:	n/a
8	chr5:111496550-111496600	HRE	kidney:	n/a
9	chr5:111496550-111496600	SK-N-MC	brain:	n/a
10	chr5:111496550-111496600	A549	lung:	n/a
11	chr5:111496550-111496600	AG09319	gingival:	n/a
12	chr5:111496550-111496600	HRCEpiC	kidney:	n/a
13	chr5:111496550-111496600	LNCaP	prostate:	n/a
14	chr5:111496550-111496600	NB4	blood:	n/a
15	chr5:111496550-111496600	HL-60	blood:	n/a
16	chr5:111496550-111496600	PANC-1	pancreas:	n/a
17	chr5:111496550-111496600	HEK293	kidney:	embryo
18	chr5:111496550-111496600	SAEC	small airway:	n/a
19	chr5:111496550-111496600	SK-N-SH_RA	brain:	n/a
20	chr5:111496550-111496600	Caco-2	colon:	n/a
21	chr5:111496550-111496600	GM12878	blood:	n/a
22	chr5:111496550-111496600	RPTEC	kidney:	n/a
23	chr5:111496550-111496600	HepG2	liver:	n/a
24	chr5:111496550-111496600	HIPEpiC	eye:	n/a
25	chr5:111496550-111496600	ECC-1	luminal epithelium:	n/a
26	chr5:111496550-111496600	K562	blood:	n/a
27	chr5:111496550-111496600	CMK	blood:	n/a
28	chr5:111496550-111496600	ovcar-3	ovarian:	n/a
29	chr5:111496550-111496600	HNPCEpiC	eye:	n/a
30	chr5:111496550-111496600	HCT-116	colon:	n/a
31	chr5:111496550-111496600	GM12892	blood:	n/a
32	chr5:111496550-111496600	H1-hESC	embryonic stem cell:	embryo
33	chr5:111496550-111496600	ProgFib	skin:	n/a
34	chr5:111496550-111496600	NHBE	bronchial:	n/a
35	chr5:111496550-111496600	GM06990	blood:	n/a
36	chr5:111496550-111496600	HCF	heart:	n/a
37	chr5:111496550-111496600	MCF10A-Er-Src	breast:	n/a
38	chr5:111496550-111496600	Hepatocyte	liver:	n/a
39	chr5:111496550-111496600	AG10803	skin:	n/a
40	chr5:111496550-111496600	AG04450	lung:	fetal
41	chr5:111496550-111496600	AG09309	skin:	n/a
42	chr5:111496550-111496600	PrEC	prostate:	n/a
43	chr5:111496550-111496600	HUVEC	blood vessel:	n/a
44	chr5:111496550-111496600	HCM	heart:	n/a
45	chr5:111496550-111496600	AG04449	skin:	fetal
46	chr5:111496550-111496600	GM12891	blood:	n/a
47	chr5:111496550-111496600	AoSMC	blood vessel:	n/a
48	chr5:111496550-111496600	NH-A	brain:	n/a
49	chr5:111496550-111496600	HEEpiC	esophagus:	n/a
50	chr5:111496550-111496600	MCF-7	breast:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:111495904..111497786-chr5:111539852..111541904,2	K562	blood:
2	chr5:110427977..110430088-chr5:111495107..111498582,4	K562	blood:
3	chr5:111092933..111095338-chr5:111496527..111499231,3	MCF-7	breast:
4	chr1:149858447..149860137-chr5:111495190..111496894,2	MCF-7	breast:
5	chr5:111496508..111497358-chr6:31795058..31795974,2	NB4	blood:
6	chr5:111495986..111496690-chr9:123555145..123555753,2	Hela-S3	cervix:
7	chr5:111495302..111497808-chr5:111754204..111756858,3	MCF-7	breast:
8	chr5:110848137..110849903-chr5:111495270..111497479,2	MCF-7	breast:
9	chr5:110846086..110848469-chr5:111495331..111498521,3	K562	blood:
10	chr5:110847947..110849920-chr5:111495605..111497967,3	K562	blood:
11	chr5:111496112..111498947-chr5:112256676..112259616,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APC-6	chr5:111496223-111496992	NR_015370

No data

Variant related genes	Relation type
SNORA13	TF binding region
EPB41L4A-AS1	TF binding region
SNORA13	CpG island
EPB41L4A-AS1	CpG island
ENSG00000246859	Chromatin interaction
ENSG00000204388	Chromatin interaction
ENSG00000119402	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000134987	Chromatin interaction
ENSG00000129595	Chromatin interaction
ENSG00000164211	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000268358	Chromatin interaction
ENSG00000129625	Chromatin interaction
ENSG00000134986	Chromatin interaction
ENSG00000251187	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10045569	0.86[ASN][1000 genomes]
rs13165611	0.86[CHB][hapmap]
rs17134228	0.86[CHB][hapmap]
rs17134250	0.86[CHB][hapmap]
rs1863960	0.86[CHB][hapmap]
rs2162733	0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs2290990	0.86[ASN][1000 genomes]
rs2303657	0.93[CHB][hapmap]
rs2900059	0.86[CHB][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3797320	0.86[CHB][hapmap];1.00[EUR][1000 genomes]
rs3815896	1.00[EUR][1000 genomes]
rs3816657	0.86[ASN][1000 genomes]
rs6873159	0.86[CHB][hapmap]
rs7713216	0.88[ASN][1000 genomes]
rs7730625	0.88[ASN][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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong 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 target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111496000-111496600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:111496000-111496600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr5:111496000-111496600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:111496000-111496800	Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr5:111496000-111497000	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr5:111496000-111497000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr5:111496000-111497000	Active TSS	Primary T cells from cord blood	blood
8	chr5:111496000-111497000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr5:111496000-111497000	Active TSS	Brain Angular Gyrus	brain
10	chr5:111496000-111497000	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:111496000-111497200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr5:111496000-111497200	Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr5:111496000-111497200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr5:111496000-111497200	Active TSS	Fetal Kidney	kidney
15	chr5:111496000-111497200	Active TSS	A549	lung
16	chr5:111496000-111497200	Active TSS	Osteobl	bone
17	chr5:111496000-111497400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr5:111496000-111497400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:111496000-111497400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:111496000-111497400	Active TSS	Fetal Brain Female	brain
21	chr5:111496000-111497400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr5:111496000-111497400	Active TSS	HSMM	muscle
23	chr5:111496000-111497600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:111496000-111497800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:111496000-111497800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:111496000-111497800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:111496000-111497800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:111496000-111497800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:111496000-111497800	Active TSS	Ovary	ovary
30	chr5:111496000-111497800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr5:111496000-111497800	Active TSS	NHLF	lung
32	chr5:111496200-111496600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:111496200-111497000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr5:111496200-111497000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:111496200-111497000	Active TSS	NHEK	skin
36	chr5:111496200-111497200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:111496200-111497200	Active TSS	Thymus	Thymus
38	chr5:111496200-111497200	Active TSS	HSMMtube	muscle
39	chr5:111496200-111497200	Active TSS	HUVEC	blood vessel
40	chr5:111496200-111497600	Active TSS	Fetal Intestine Small	intestine
41	chr5:111496200-111497800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr5:111496200-111497800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr5:111496200-111497800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr5:111496200-111497800	Active TSS	Fetal Heart	heart
45	chr5:111496200-111498000	Active TSS	H1 Cell Line	embryonic stem cell
46	chr5:111496200-111498200	Active TSS	Psoas Muscle	Psoas
47	chr5:111496200-111498200	Active TSS	Right Atrium	heart
48	chr5:111496400-111496600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:111496400-111496600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:111496400-111496600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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