Variant report

Variant	rs118178117
Chromosome Location	chr5:68628785-68628786
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr5:68628445-68629119	A549	lung:	n/a	n/a
2	MAX	chr5:68627739-68628939	NB4	blood:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
3	CCNT2	chr5:68628430-68628816	K562	blood:	n/a	n/a
4	FOXA1	chr5:68628584-68628998	HepG2	liver:	n/a	n/a
5	FOXP2	chr5:68628412-68628823	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr5:68627479-68628844	HepG2	liver:	n/a	n/a
7	USF1	chr5:68628239-68629064	SK-N-SH	brain:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
8	SETDB1	chr5:68628580-68628857	U2OS	brain:	n/a	chr5:68628615-68628624
9	YY1	chr5:68628293-68628950	HepG2	liver:	n/a	chr5:68628622-68628633 chr5:68628703-68628722
10	POLR2A	chr5:68628358-68628818	HepG2	liver:	n/a	n/a
11	PAX5	chr5:68628496-68628878	GM12878	blood:	n/a	chr5:68628615-68628624
12	USF1	chr5:68628437-68628951	SK-N-SH_RA	brain:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
13	E2F6	chr5:68628224-68629174	A549	lung:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
14	RELA	chr5:68628363-68628911	GM15510	blood:	n/a	n/a
15	STAT5A	chr5:68628474-68628825	GM12878	blood:	n/a	n/a
16	IRF4	chr5:68628350-68628912	GM12878	blood:	n/a	n/a
17	TBP	chr5:68628387-68628909	GM12878	blood:	n/a	n/a
18	USF1	chr5:68628476-68628835	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
19	BHLHE40	chr5:68628468-68628887	K562	blood:	n/a	chr5:68628621-68628637
20	ATF3	chr5:68628438-68628795	K562	blood:	n/a	chr5:68628651-68628671
21	NR2F2	chr5:68628327-68628929	K562	blood:	n/a	n/a
22	RCOR1	chr5:68627735-68628862	HepG2	liver:	n/a	n/a
23	USF1	chr5:68628373-68628979	K562	blood:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
24	E2F6	chr5:68628418-68628927	H1-hESC	embryonic stem cell:	n/a	chr5:68628615-68628624 chr5:68628626-68628636
25	TAF1	chr5:68628430-68628807	SK-N-SH	brain:	n/a	n/a
26	USF2	chr5:68628462-68628856	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
27	POLR2A	chr5:68628338-68628926	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:68628425-68628875	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr5:68628336-68628926	K562	blood:	n/a	n/a
30	POLR2A	chr5:68628360-68628870	K562	blood:	n/a	n/a
31	HEY1	chr5:68628356-68628906	K562	blood:	n/a	chr5:68628621-68628636 chr5:68628612-68628627 chr5:68628623-68628638
32	ARID3A	chr5:68627607-68628919	HepG2	liver:	n/a	n/a
33	YY1	chr5:68628405-68628905	GM12891	blood:	n/a	chr5:68628622-68628633 chr5:68628703-68628722
34	REST	chr5:68628300-68628806	HepG2	liver:	n/a	chr5:68628786-68628806 chr5:68628439-68628459 chr5:68628535-68628555 chr5:68628442-68628455 chr5:68628535-68628555 chr5:68628536-68628554
35	USF1	chr5:68628508-68628856	H1-hESC	embryonic stem cell:	n/a	chr5:68628650-68628661 chr5:68628621-68628637
36	POLR2A	chr5:68628277-68628946	Raji	blood:	n/a	n/a
37	UBTF	chr5:68628490-68628799	K562	blood:	n/a	n/a
38	YY1	chr5:68628336-68628823	K562	blood:	n/a	chr5:68628622-68628633 chr5:68628703-68628722
39	SIN3AK20	chr5:68628545-68628847	HepG2	liver:	n/a	n/a
40	BCL3	chr5:68628522-68629005	A549	lung:	n/a	chr5:68628624-68628637
41	ATF3	chr5:68628323-68628880	A549	lung:	n/a	chr5:68628651-68628671
42	RFX5	chr5:68628533-68628919	HepG2	liver:	n/a	n/a
43	POLR2A	chr5:68628272-68629036	PANC-1	pancreas:	n/a	n/a
44	SMC3	chr5:68628358-68628872	Hela-S3	cervix:	n/a	n/a
45	SMARCB1	chr5:68628338-68628926	Hela-S3	cervix:	n/a	n/a
46	ETS1	chr5:68628404-68628888	A549	lung:	n/a	chr5:68628461-68628470
47	POLR2A	chr5:68628349-68628921	HCT-116	colon:	n/a	n/a
48	MAX	chr5:68628283-68629082	HepG2	liver:	n/a	chr5:68628650-68628661 chr5:68628659-68628666 chr5:68628651-68628660 chr5:68628661-68628670 chr5:68628651-68628660 chr5:68628649-68628662 chr5:68628651-68628660
49	YY1	chr5:68628364-68628924	ECC-1	luminal epithelium:	n/a	chr5:68628622-68628633 chr5:68628703-68628722
50	TBP	chr5:68628409-68628887	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:68628738-68628788	NB4	blood:	n/a
2	chr5:68628738-68628788	MCF10A-Er-Src	breast:	n/a
3	chr5:68628738-68628788	IMR90	lung:	fetal
4	chr5:68628738-68628788	HepG2	liver:	n/a
5	chr5:68628738-68628788	K562	blood:	n/a
6	chr5:68628738-68628788	A549	lung:	n/a
7	chr5:68628738-68628788	H1-hESC	embryonic stem cell:	embryo
8	chr5:68628738-68628788	NT2-D1	testis:	n/a
9	chr5:68628738-68628788	Jurkat	blood:	n/a
10	chr5:68628738-68628788	AG04450	lung:	fetal
11	chr5:68628738-68628788	Hepatocyte	liver:	n/a
12	chr5:68628738-68628788	HUVEC	blood vessel:	n/a
13	chr5:68628738-68628788	SK-N-SH	brain:	n/a
14	chr5:68628738-68628788	U87	brain:	n/a
15	chr5:68628738-68628788	AG10803	skin:	n/a
16	chr5:68628738-68628788	BJ	skin:	n/a
17	chr5:68628738-68628788	HCPEpiC	choroid plexus:	n/a
18	chr5:68628738-68628788	ovcar-3	ovarian:	n/a
19	chr5:68628738-68628788	HRPEpiC	eye:	n/a
20	chr5:68628738-68628788	HAEpiC	amniotic membrane:	n/a
21	chr5:68628738-68628788	HCM	heart:	n/a
22	chr5:68628738-68628788	HCF	heart:	n/a
23	chr5:68628738-68628788	HEEpiC	esophagus:	n/a
24	chr5:68628738-68628788	SAEC	small airway:	n/a
25	chr5:68628738-68628788	NHDF-neo	bronchial:	n/a
26	chr5:68628738-68628788	Hela-S3	cervix:	n/a
27	chr5:68628738-68628788	BE2_C	brain:	n/a
28	chr5:68628738-68628788	HCT-116	colon:	n/a
29	chr5:68628738-68628788	RPTEC	kidney:	n/a
30	chr5:68628738-68628788	HMEC	breast:	n/a
31	chr5:68628738-68628788	LNCaP	prostate:	n/a
32	chr5:68628738-68628788	AG09309	skin:	n/a
33	chr5:68628738-68628788	ProgFib	skin:	n/a
34	chr5:68628738-68628788	HRE	kidney:	n/a
35	chr5:68628738-68628788	GM12891	blood:	n/a
36	chr5:68628738-68628788	SK-N-SH_RA	brain:	n/a
37	chr5:68628738-68628788	HIPEpiC	eye:	n/a
38	chr5:68628738-68628788	GM19239	blood:	n/a
39	chr5:68628738-68628788	AG09319	gingival:	n/a
40	chr5:68628738-68628788	SK-N-MC	brain:	n/a
41	chr5:68628738-68628788	NH-A	brain:	n/a
42	chr5:68628738-68628788	MCF-7	breast:	n/a
43	chr5:68628738-68628788	GM06990	blood:	n/a
44	chr5:68628738-68628788	HPAEpiC	pulmonary alveolar:	n/a
45	chr5:68628738-68628788	ECC-1	luminal epithelium:	n/a
46	chr5:68628738-68628788	AoSMC	blood vessel:	n/a
47	chr5:68628738-68628788	Caco-2	colon:	n/a
48	chr5:68628738-68628788	NHBE	bronchial:	n/a
49	chr5:68628738-68628788	T-47D	breast:	n/a
50	chr5:68628738-68628788	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:68628027..68630302-chr5:68663373..68666765,3	K562	blood:
2	chr5:68626792..68633026-chr5:68660168..68667090,13	MCF-7	breast:
3	chr5:68485299..68487066-chr5:68626120..68629033,4	MCF-7	breast:
4	chr5:68626462..68633259-chr5:68656360..68665608,14	MCF-7	breast:
5	chr5:68606839..68610803-chr5:68625940..68628885,4	MCF-7	breast:
6	chr5:68529975..68532202-chr5:68627120..68629377,3	MCF-7	breast:
7	chr5:68628511..68630857-chr5:68714273..68716319,2	MCF-7	breast:
8	chr5:68388706..68391393-chr5:68627238..68631529,6	MCF-7	breast:

Variant related genes	Relation type
CCDC125	TF binding region
CHCHD2P2	TF binding region
CHCHD2P2	CpG island
CCDC125	CpG island
ENSG00000152939	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000145740	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000213830	Chromatin interaction
ENSG00000153044	Chromatin interaction
ENSG00000134058	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv969960	chr5:68613678-68646127	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3515528	chr5:68624487-68653938	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3515529	chr5:68624487-68653938	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv881767	chr5:68625786-68733698	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv968922	chr5:68628679-68631659	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68627000-68628800	Active TSS	Duodenum Mucosa	Duodenum
2	chr5:68627200-68628800	Active TSS	Colonic Mucosa	Colon
3	chr5:68627200-68629200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr5:68627400-68628800	Active TSS	Fetal Intestine Small	intestine
5	chr5:68627400-68628800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr5:68627400-68628800	Active TSS	Fetal Stomach	stomach
7	chr5:68627400-68628800	Flanking Active TSS	HMEC	breast
8	chr5:68627400-68629000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr5:68627400-68629000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr5:68627400-68629000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr5:68627400-68629000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr5:68627400-68629000	Flanking Active TSS	NHEK	skin
13	chr5:68627400-68629200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:68627600-68628800	Active TSS	Fetal Intestine Large	intestine
15	chr5:68627600-68628800	Active TSS	Stomach Mucosa	stomach
16	chr5:68627600-68629000	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr5:68627600-68629000	Active TSS	Fetal Kidney	kidney
18	chr5:68627600-68629000	Active TSS	Thymus	Thymus
19	chr5:68627600-68629200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:68627800-68628800	Active TSS	Liver	Liver
21	chr5:68627800-68628800	Active TSS	Fetal Brain Male	brain
22	chr5:68627800-68628800	Active TSS	Pancreas	Pancrea
23	chr5:68627800-68628800	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr5:68627800-68628800	Active TSS	NHDF-Ad	bronchial
25	chr5:68627800-68628800	Active TSS	NHLF	lung
26	chr5:68627800-68628800	Active TSS	Osteobl	bone
27	chr5:68627800-68629000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr5:68627800-68629000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr5:68627800-68629000	Active TSS	Brain Hippocampus Middle	brain
30	chr5:68627800-68629000	Active TSS	Fetal Lung	lung
31	chr5:68627800-68629200	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr5:68627800-68629200	Active TSS	Stomach Smooth Muscle	stomach
33	chr5:68628000-68628800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr5:68628000-68628800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:68628000-68628800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr5:68628000-68628800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:68628000-68628800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr5:68628000-68628800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr5:68628000-68628800	Active TSS	Fetal Muscle Leg	muscle
40	chr5:68628000-68628800	Active TSS	K562	blood
41	chr5:68628000-68629000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:68628000-68629000	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr5:68628000-68629000	Active TSS	Psoas Muscle	Psoas
44	chr5:68628000-68629000	Flanking Active TSS	HUVEC	blood vessel
45	chr5:68628000-68629000	Flanking Active TSS	NH-A	brain
46	chr5:68628000-68629200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:68628000-68629200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr5:68628000-68629400	Active TSS	A549	lung
49	chr5:68628200-68628800	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr5:68628200-68628800	Active TSS	Cortex derived primary cultured neurospheres	brain

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