Variant report

Variant	rs17366761
Chromosome Location	chr5:95194686-95194687
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:421)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:421 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr5:95194508-95194832	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA3	chr5:95193771-95195542	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr5:95194262-95194998	ECC-1	luminal epithelium:	n/a	n/a
4	CHD2	chr5:95194357-95194999	HepG2	liver:	n/a	n/a
5	CTCF	chr5:95194256-95194891	HCT-116	colon:	n/a	n/a
6	TEAD4	chr5:95194361-95195068	A549	lung:	n/a	n/a
7	FOS	chr5:95194540-95195364	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr5:95194407-95195044	A549	lung:	n/a	n/a
9	TAF1	chr5:95194487-95195042	Hela-S3	cervix:	n/a	n/a
10	MAFK	chr5:95194410-95195136	IMR90	lung:	n/a	n/a
11	POLR2A	chr5:95194671-95194696	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr5:95194470-95194734	LNCaP	prostate:	n/a	n/a
13	RAD21	chr5:95194314-95194865	ECC-1	luminal epithelium:	n/a	n/a
14	RFX5	chr5:95194411-95195197	HepG2	liver:	n/a	n/a
15	MAFK	chr5:95194355-95195494	Hela-S3	cervix:	n/a	n/a
16	EP300	chr5:95194186-95195188	A549	lung:	n/a	n/a
17	ATF2	chr5:95194397-95194893	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr5:95194154-95195175	HCT-116	colon:	n/a	n/a
19	RCOR1	chr5:95194401-95195612	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr5:95194435-95194762	Gliobla	brain:	n/a	n/a
21	JUND	chr5:95194483-95195415	Hela-S3	cervix:	n/a	chr5:95194890-95194901
22	NRF1	chr5:95194370-95194780	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:95194318-95195485	HUVEC	blood vessel:	n/a	n/a
24	CREB1	chr5:95194380-95194961	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr5:95194410-95194837	GM12878	blood:	n/a	n/a
26	FOSL2	chr5:95194378-95195093	A549	lung:	n/a	n/a
27	MAZ	chr5:95194394-95194823	GM12878	blood:	n/a	n/a
28	SP1	chr5:95194299-95195281	A549	lung:	n/a	n/a
29	USF2	chr5:95194372-95195366	Hela-S3	cervix:	n/a	n/a
30	RAD21	chr5:95194337-95194881	H1-hESC	embryonic stem cell:	n/a	n/a
31	HDAC2	chr5:95194310-95194930	HepG2	liver:	n/a	n/a
32	CTCF	chr5:95194434-95194788	GM19238	blood:	n/a	n/a
33	CTCF	chr5:95194424-95194795	GM12892	blood:	n/a	n/a
34	FOXA1	chr5:95194402-95195140	HepG2	liver:	n/a	n/a
35	CTCF	chr5:95194447-95194887	MCF-7	breast:	n/a	n/a
36	GTF2F1	chr5:95194351-95195703	Hela-S3	cervix:	n/a	n/a
37	EP300	chr5:95194345-95195145	HepG2	liver:	n/a	n/a
38	MYC	chr5:95194284-95195044	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr5:95194267-95194925	HepG2	liver:	n/a	n/a
40	ARID3A	chr5:95194469-95194760	K562	blood:	n/a	n/a
41	YY1	chr5:95194447-95194809	GM12891	blood:	n/a	n/a
42	CTCF	chr5:95194480-95194703	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:95194460-95195101	SK-N-SH	brain:	n/a	n/a
44	CTCF	chr5:95194540-95194690	MCF-7	breast:	n/a	n/a
45	RAD21	chr5:95194377-95195012	GM12878	blood:	n/a	n/a
46	ELF1	chr5:95194461-95194874	K562	blood:	n/a	n/a
47	CREB1	chr5:95194350-95195142	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr5:95194451-95194757	MCF-7	breast:	n/a	n/a
49	MAX	chr5:95194232-95194951	NB4	blood:	n/a	n/a
50	TBL1XR1	chr5:95194429-95194897	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95194159..95195132-chr5:95937235..95938162,2	MCF-7	breast:
2	chr5:95065746..95068516-chr5:95192441..95195088,2	K562	blood:
3	chr5:95194289..95194985-chr5:95673265..95673800,2	MCF-7	breast:
4	chr5:95192803..95195845-chr5:95402156..95405628,4	K562	blood:
5	chr5:95194068..95196070-chr5:95401310..95403656,2	K562	blood:
6	chr5:95193159..95197035-chr5:95199083..95201765,3	K562	blood:
7	chr5:95170114..95172338-chr5:95193145..95195226,2	MCF-7	breast:
8	chr5:95193414..95195119-chr5:95295592..95298550,2	MCF-7	breast:
9	chr5:95182879..95183392-chr5:95194256..95194971,2	K562	blood:
10	chr5:95193997..95195123-chr5:95671828..95672801,8	MCF-7	breast:
11	chr5:95194274..95195016-chr5:95296491..95297023,2	K562	blood:
12	chr5:95194147..95195090-chr5:95671681..95672723,8	K562	blood:
13	chr5:95194461..95195074-chr5:95671101..95671678,2	K562	blood:
14	chr5:95194159..95195061-chr5:95937129..95937952,3	K562	blood:
15	chr5:95194282..95195007-chr5:95671976..95672736,3	MCF-7	breast:
16	chr5:95194227..95195153-chr5:95228091..95229270,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C5orf27-2	chr5:95194508-95195835	NONHSAT102871
2	lnc-C5orf27-2	chr5:95194508-95195836	NR_026936

No data

Variant related genes	Relation type
ENSG00000250362	TF binding region
ENSG00000251000	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000251314	Chromatin interaction
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6873611	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
2	chr5:95188400-95195600	Enhancers	Fetal Heart	heart
3	chr5:95191800-95195800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:95191800-95195800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:95192000-95201400	Enhancers	Placenta	Placenta
6	chr5:95192200-95194800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:95192200-95195000	Enhancers	Lung	lung
8	chr5:95192200-95195000	Enhancers	Right Atrium	heart
9	chr5:95192200-95195800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:95192200-95199400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:95192400-95195400	Weak transcription	Small Intestine	intestine
12	chr5:95192400-95199200	Enhancers	Placenta Amnion	Placenta Amnion
13	chr5:95193000-95195000	Enhancers	Stomach Mucosa	stomach
14	chr5:95193000-95196400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:95193400-95194800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:95193400-95196000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:95193600-95196800	Weak transcription	Right Ventricle	heart
18	chr5:95193800-95196400	Flanking Active TSS	Hela-S3	cervix
19	chr5:95193800-95197000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:95194000-95194800	Enhancers	Fetal Intestine Large	intestine
21	chr5:95194000-95195000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr5:95194000-95195000	Enhancers	K562	blood
23	chr5:95194000-95195600	Flanking Active TSS	HepG2	liver
24	chr5:95194000-95200800	Weak transcription	Gastric	stomach
25	chr5:95194200-95194800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:95194200-95194800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:95194200-95194800	Active TSS	Aorta	Aorta
28	chr5:95194200-95194800	Flanking Active TSS	Liver	Liver
29	chr5:95194200-95195000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:95194200-95195000	Enhancers	Primary hematopoietic stem cells	blood
31	chr5:95194200-95195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:95194200-95195000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr5:95194200-95195000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr5:95194200-95195000	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr5:95194200-95195000	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr5:95194200-95195000	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr5:95194200-95195000	Flanking Active TSS	Fetal Lung	lung
38	chr5:95194200-95195000	Active TSS	Rectal Smooth Muscle	rectum
39	chr5:95194200-95195400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr5:95194200-95195400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:95194200-95195600	Flanking Active TSS	A549	lung
42	chr5:95194200-95195800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr5:95194200-95199000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:95194200-95203000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr5:95194400-95194800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr5:95194400-95194800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr5:95194400-95194800	Active TSS	Colon Smooth Muscle	Colon
48	chr5:95194400-95194800	Active TSS	Esophagus	oesophagus
49	chr5:95194400-95194800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr5:95194400-95194800	Enhancers	Fetal Intestine Small	intestine

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