Variant report

Variant	rs17135117
Chromosome Location	chr5:112228670-112228671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:112228548-112228731	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:112228657-112228707	BJ	skin:	n/a
2	chr5:112228657-112228707	HCF	heart:	n/a
3	chr5:112228657-112228707	NHDF-neo	bronchial:	n/a
4	chr5:112228657-112228707	Hepatocyte	liver:	n/a
5	chr5:112228657-112228707	HPAEpiC	pulmonary alveolar:	n/a
6	chr5:112228657-112228707	GM06990	blood:	n/a
7	chr5:112228657-112228707	HL-60	blood:	n/a
8	chr5:112228657-112228707	AG04450	lung:	fetal
9	chr5:112228657-112228707	HEEpiC	esophagus:	n/a
10	chr5:112228657-112228707	HAEpiC	amniotic membrane:	n/a
11	chr5:112228657-112228707	RPTEC	kidney:	n/a
12	chr5:112228657-112228707	A549	lung:	n/a
13	chr5:112228657-112228707	PANC-1	pancreas:	n/a
14	chr5:112228657-112228707	Jurkat	blood:	n/a
15	chr5:112228657-112228707	K562	blood:	n/a
16	chr5:112228657-112228707	LNCaP	prostate:	n/a
17	chr5:112228657-112228707	HUVEC	blood vessel:	n/a
18	chr5:112228657-112228707	AG10803	skin:	n/a
19	chr5:112228657-112228707	BE2_C	brain:	n/a
20	chr5:112228657-112228707	SK-N-SH_RA	brain:	n/a
21	chr5:112228657-112228707	HCT-116	colon:	n/a
22	chr5:112228657-112228707	MCF-7	breast:	n/a
23	chr5:112228657-112228707	ProgFib	skin:	n/a
24	chr5:112228657-112228707	ECC-1	luminal epithelium:	n/a
25	chr5:112228657-112228707	GM12892	blood:	n/a
26	chr5:112228657-112228707	SK-N-SH	brain:	n/a
27	chr5:112228657-112228707	HRE	kidney:	n/a
28	chr5:112228657-112228707	SKMC	muscle:	n/a
29	chr5:112228657-112228707	AG09309	skin:	n/a
30	chr5:112228657-112228707	SAEC	small airway:	n/a
31	chr5:112228657-112228707	HCPEpiC	choroid plexus:	n/a
32	chr5:112228657-112228707	GM19239	blood:	n/a
33	chr5:112228657-112228707	MCF10A-Er-Src	breast:	n/a
34	chr5:112228657-112228707	GM12878	blood:	n/a
35	chr5:112228657-112228707	Hela-S3	cervix:	n/a
36	chr5:112228657-112228707	HIPEpiC	eye:	n/a
37	chr5:112228657-112228707	HNPCEpiC	eye:	n/a
38	chr5:112228657-112228707	GM12891	blood:	n/a
39	chr5:112228657-112228707	T-47D	breast:	n/a
40	chr5:112228657-112228707	HRPEpiC	eye:	n/a
41	chr5:112228657-112228707	HMEC	breast:	n/a
42	chr5:112228657-112228707	HEK293	kidney:	embryo
43	chr5:112228657-112228707	AG04449	skin:	fetal
44	chr5:112228657-112228707	ovcar-3	ovarian:	n/a
45	chr5:112228657-112228707	Caco-2	colon:	n/a
46	chr5:112228657-112228707	IMR90	lung:	fetal
47	chr5:112228657-112228707	NH-A	brain:	n/a
48	chr5:112228657-112228707	CMK	blood:	n/a
49	chr5:112228657-112228707	H1-hESC	embryonic stem cell:	embryo
50	chr5:112228657-112228707	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112196670..112199465-chr5:112228539..112231018,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270067	TF binding region
ENSG00000270067	CpG island
ENSG00000153037	Chromatin interaction
ENSG00000272869	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10058561	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519333	0.92[JPT][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11555908	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13360640	1.00[EUR][1000 genomes]
rs17135066	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17135070	0.83[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17135100	0.83[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135108	0.83[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17135149	0.83[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17135155	0.83[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2900065	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3733963	0.83[JPT][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822652	0.91[CHB][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3822654	0.83[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892986	1.00[EUR][1000 genomes]
rs57726881	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57749964	1.00[EUR][1000 genomes]
rs58625991	1.00[EUR][1000 genomes]
rs58865195	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59349522	1.00[EUR][1000 genomes]
rs6594652	0.85[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6864403	0.85[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs728344	1.00[EUR][1000 genomes]
rs73227382	1.00[EUR][1000 genomes]
rs73227383	1.00[EUR][1000 genomes]
rs7701868	0.90[ASN][1000 genomes]
rs7728109	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7728481	0.83[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7728766	0.97[ASN][1000 genomes]
rs7730241	1.00[EUR][1000 genomes]
rs7735121	0.85[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9687790	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
6	nsv1029595	chr5:112197662-112242375	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1030103	chr5:112197662-112255712	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537863	chr5:112197662-112255712	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv968976	chr5:112227463-112229210	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112213200-112229400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
15	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
17	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
18	chr5:112221800-112231400	Weak transcription	Psoas Muscle	Psoas
19	chr5:112221800-112231800	Weak transcription	Stomach Mucosa	stomach
20	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:112222000-112231400	Weak transcription	Hela-S3	cervix
22	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr5:112222200-112229200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:112222200-112231200	Weak transcription	Colon Smooth Muscle	Colon
26	chr5:112222800-112229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:112222800-112229600	Weak transcription	Fetal Heart	heart
28	chr5:112222800-112231600	Weak transcription	Fetal Kidney	kidney
29	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:112223000-112229200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:112223000-112229200	Weak transcription	Brain Angular Gyrus	brain
32	chr5:112223000-112229200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:112223000-112231000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr5:112223000-112231200	Weak transcription	Brain Substantia Nigra	brain
35	chr5:112223000-112231200	Weak transcription	HUVEC	blood vessel
36	chr5:112223000-112231400	Weak transcription	HSMMtube	muscle
37	chr5:112223000-112233600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr5:112223000-112233800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:112223000-112234200	Weak transcription	Aorta	Aorta
40	chr5:112223000-112234400	Weak transcription	Ovary	ovary
41	chr5:112223000-112235800	Weak transcription	K562	blood
42	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:112223000-112243000	Weak transcription	Right Ventricle	heart
44	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
45	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
48	chr5:112223200-112229200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr5:112223200-112229200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:112223200-112229200	Weak transcription	Stomach Smooth Muscle	stomach

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