Variant report

Variant	rs17467162
Chromosome Location	chr5:61714612-61714613
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr5:61714432-61714889	K562	blood:	n/a	n/a
2	CEBPB	chr5:61714612-61714878	K562	blood:	n/a	n/a
3	EP300	chr5:61714520-61714817	K562	blood:	n/a	n/a
4	POLR2A	chr5:61714423-61714777	HepG2	liver:	n/a	n/a
5	ZMIZ1	chr5:61714607-61714809	K562	blood:	n/a	n/a
6	RCOR1	chr5:61714471-61714904	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:61714607-61714657	HEEpiC	esophagus:	n/a
2	chr5:61714607-61714657	SKMC	muscle:	n/a
3	chr5:61714607-61714657	IMR90	lung:	fetal
4	chr5:61714607-61714657	H1-hESC	embryonic stem cell:	embryo
5	chr5:61714607-61714657	SK-N-MC	brain:	n/a
6	chr5:61714607-61714657	HRCEpiC	kidney:	n/a
7	chr5:61714607-61714657	HCT-116	colon:	n/a
8	chr5:61714607-61714657	HEK293	kidney:	embryo
9	chr5:61714607-61714657	RPTEC	kidney:	n/a
10	chr5:61714607-61714657	NT2-D1	testis:	n/a
11	chr5:61714607-61714657	SK-N-SH	brain:	n/a
12	chr5:61714607-61714657	GM12891	blood:	n/a
13	chr5:61714607-61714657	AoSMC	blood vessel:	n/a
14	chr5:61714607-61714657	HCM	heart:	n/a
15	chr5:61714607-61714657	HNPCEpiC	eye:	n/a
16	chr5:61714607-61714657	SAEC	small airway:	n/a
17	chr5:61714607-61714657	LNCaP	prostate:	n/a
18	chr5:61714607-61714657	HL-60	blood:	n/a
19	chr5:61714607-61714657	HMEC	breast:	n/a
20	chr5:61714607-61714657	BJ	skin:	n/a
21	chr5:61714607-61714657	HPAEpiC	pulmonary alveolar:	n/a
22	chr5:61714607-61714657	GM12878	blood:	n/a
23	chr5:61714607-61714657	BE2_C	brain:	n/a
24	chr5:61714607-61714657	AG10803	skin:	n/a
25	chr5:61714607-61714657	PANC-1	pancreas:	n/a
26	chr5:61714607-61714657	AG04450	lung:	fetal
27	chr5:61714607-61714657	HepG2	liver:	n/a
28	chr5:61714607-61714657	MCF-7	breast:	n/a
29	chr5:61714607-61714657	AG09309	skin:	n/a
30	chr5:61714607-61714657	HCPEpiC	choroid plexus:	n/a
31	chr5:61714607-61714657	PFSK-1	brain:	n/a
32	chr5:61714607-61714657	U87	brain:	n/a
33	chr5:61714607-61714657	HAEpiC	amniotic membrane:	n/a
34	chr5:61714607-61714657	ProgFib	skin:	n/a
35	chr5:61714607-61714657	HRE	kidney:	n/a
36	chr5:61714607-61714657	HUVEC	blood vessel:	n/a
37	chr5:61714607-61714657	HIPEpiC	eye:	n/a
38	chr5:61714607-61714657	ECC-1	luminal epithelium:	n/a
39	chr5:61714607-61714657	SK-N-SH_RA	brain:	n/a
40	chr5:61714607-61714657	GM19239	blood:	n/a
41	chr5:61714607-61714657	HRPEpiC	eye:	n/a
42	chr5:61714607-61714657	NB4	blood:	n/a
43	chr5:61714607-61714657	NHBE	bronchial:	n/a
44	chr5:61714607-61714657	GM06990	blood:	n/a
45	chr5:61714607-61714657	PrEC	prostate:	n/a
46	chr5:61714607-61714657	A549	lung:	n/a
47	chr5:61714607-61714657	NH-A	brain:	n/a
48	chr5:61714607-61714657	NHDF-neo	bronchial:	n/a
49	chr5:61714607-61714657	GM12892	blood:	n/a
50	chr5:61714607-61714657	Caco-2	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61708374..61709879-chr5:61712891..61715060,2	MCF-7	breast:

No data

Variant related genes	Relation type
IPO11	TF binding region
IPO11	CpG island
ENSG00000086200	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10514936	0.85[CHB][hapmap];0.95[ASN][1000 genomes]
rs17382964	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17467190	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3776633	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.97[ASN][1000 genomes]
rs45623332	0.95[ASN][1000 genomes]
rs6866966	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1025145	chr5:61624735-61824265	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	esv2757117	chr5:61649403-61748912	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	esv35035	chr5:61657943-61792243	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61709200-61770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:61709400-61727400	Weak transcription	Placenta	Placenta
3	chr5:61709400-61727400	Weak transcription	Pancreas	Pancrea
4	chr5:61709400-61763400	Weak transcription	Aorta	Aorta
5	chr5:61709600-61719400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:61709600-61723000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:61709600-61724600	Weak transcription	Fetal Stomach	stomach
8	chr5:61709600-61726400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:61709600-61728000	Weak transcription	Gastric	stomach
10	chr5:61709600-61738800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:61709600-61738800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr5:61709600-61739800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:61709600-61744000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:61709800-61727400	Weak transcription	HSMM	muscle
15	chr5:61709800-61728000	Weak transcription	Fetal Lung	lung
16	chr5:61709800-61728000	Weak transcription	Right Ventricle	heart
17	chr5:61709800-61728000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:61709800-61728200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:61709800-61738800	Weak transcription	Fetal Kidney	kidney
20	chr5:61709800-61743800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:61709800-61746000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:61709800-61746600	Weak transcription	Fetal Thymus	thymus
23	chr5:61709800-61769000	Weak transcription	NH-A	brain
24	chr5:61709800-61809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr5:61710000-61715800	Weak transcription	HUVEC	blood vessel
26	chr5:61710000-61716200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr5:61710000-61717200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:61710000-61718400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr5:61710000-61721200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr5:61710000-61721400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr5:61710000-61727000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:61710000-61727200	Weak transcription	Fetal Muscle Leg	muscle
33	chr5:61710000-61727600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr5:61710000-61729000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:61710000-61734200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:61710000-61734200	Weak transcription	Fetal Intestine Small	intestine
37	chr5:61710000-61737400	Weak transcription	Fetal Intestine Large	intestine
38	chr5:61710000-61739000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:61710000-61746000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:61710200-61720400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr5:61710200-61728000	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:61710200-61733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:61710200-61738800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:61710200-61746000	Weak transcription	Primary B cells from cord blood	blood
45	chr5:61710400-61718400	Weak transcription	NHDF-Ad	bronchial
46	chr5:61710400-61733600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:61710400-61739000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:61710400-61746000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr5:61710600-61716000	Weak transcription	Brain Angular Gyrus	brain
50	chr5:61710600-61738800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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