Variant report

Variant	rs4902644
Chromosome Location	chr14:39901940-39901941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:387)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr14:39900006-39902640	HepG2	liver:	n/a	n/a
2	RAD21	chr14:39901870-39902524	HepG2	liver:	n/a	n/a
3	CTCF	chr14:39901928-39902398	IMR90	lung:	n/a	n/a
4	TBP	chr14:39900699-39902369	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr14:39901202-39902075	H1-hESC	embryonic stem cell:	n/a	chr14:39901606-39901622 chr14:39901657-39901673 chr14:39901693-39901700
6	HMGN3	chr14:39900744-39902292	K562	blood:	n/a	n/a
7	RCOR1	chr14:39901403-39902646	K562	blood:	n/a	n/a
8	RCOR1	chr14:39900421-39902746	K562	blood:	n/a	n/a
9	POLR2A	chr14:39901795-39902413	GM12891	blood:	n/a	n/a
10	NFIC	chr14:39901212-39902816	HepG2	liver:	n/a	n/a
11	MAX	chr14:39900350-39902625	HepG2	liver:	n/a	n/a
12	HNF4A	chr14:39901534-39902398	HepG2	liver:	n/a	n/a
13	JUND	chr14:39900327-39902438	GM12878	blood:	n/a	chr14:39902308-39902322 chr14:39900741-39900750
14	POLR2A	chr14:39901782-39902503	HepG2	liver:	n/a	n/a
15	MYC	chr14:39900597-39902533	K562	blood:	n/a	n/a
16	ETS1	chr14:39901764-39902238	A549	lung:	n/a	n/a
17	EBF1	chr14:39901798-39902208	GM12878	blood:	n/a	n/a
18	BCL3	chr14:39901431-39902290	A549	lung:	n/a	n/a
19	USF1	chr14:39901286-39902457	HCT-116	colon:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
20	USF1	chr14:39901458-39902354	A549	lung:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
21	MAX	chr14:39901258-39902383	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr14:39901341-39902380	GM12878	blood:	n/a	n/a
23	MAX	chr14:39900408-39902515	Hela-S3	cervix:	n/a	n/a
24	SP4	chr14:39901275-39902379	H1-hESC	embryonic stem cell:	n/a	chr14:39901378-39901394 chr14:39901451-39901467 chr14:39901799-39901810
25	REST	chr14:39901747-39902376	A549	lung:	n/a	chr14:39902231-39902238 chr14:39902332-39902350
26	FOXP2	chr14:39901207-39901989	PFSK-1	brain:	n/a	n/a
27	TBL1XR1	chr14:39901345-39902534	GM12878	blood:	n/a	n/a
28	TAF1	chr14:39901796-39902402	Hela-S3	cervix:	n/a	n/a
29	EP300	chr14:39901795-39902700	HepG2	liver:	n/a	chr14:39902667-39902681 chr14:39902405-39902419 chr14:39902408-39902422
30	SIN3A	chr14:39900264-39902555	H1-hESC	embryonic stem cell:	n/a	n/a
31	ETS1	chr14:39901799-39902373	GM12878	blood:	n/a	n/a
32	WRNIP1	chr14:39901846-39902598	GM12878	blood:	n/a	n/a
33	POLR2A	chr14:39901768-39902469	GM12891	blood:	n/a	n/a
34	ELF1	chr14:39901065-39902670	MCF-7	breast:	n/a	chr14:39902114-39902126
35	MAX	chr14:39900459-39902486	MCF-7	breast:	n/a	n/a
36	MTA3	chr14:39901788-39902436	GM12878	blood:	n/a	n/a
37	TCF12	chr14:39901345-39902444	ECC-1	luminal epithelium:	n/a	n/a
38	MAX	chr14:39901798-39902522	ECC-1	luminal epithelium:	n/a	n/a
39	PAX5	chr14:39901773-39902354	GM12878	blood:	n/a	chr14:39901946-39901955 chr14:39902128-39902147
40	POLR2A	chr14:39901804-39902509	GM12891	blood:	n/a	n/a
41	POLR2A	chr14:39900483-39902500	GM15510	blood:	n/a	n/a
42	RCOR1	chr14:39900795-39902608	HepG2	liver:	n/a	n/a
43	RAD21	chr14:39901930-39902349	HepG2	liver:	n/a	n/a
44	MXI1	chr14:39900395-39902378	Hela-S3	cervix:	n/a	chr14:39902031-39902040
45	NFIC	chr14:39901587-39902529	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr14:39901393-39902704	Hela-S3	cervix:	n/a	n/a
47	MBD4	chr14:39901240-39903267	HepG2	liver:	n/a	n/a
48	POLR2A	chr14:39900466-39902466	H1-neurons	neurons:	n/a	n/a
49	FOXA2	chr14:39901178-39902986	HepG2	liver:	n/a	n/a
50	ELF1	chr14:39901132-39902571	HCT-116	colon:	n/a	chr14:39902114-39902126

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39901919-39901969	SKMC	muscle:	n/a
2	chr14:39901919-39901969	HEEpiC	esophagus:	n/a
3	chr14:39901919-39901969	HRE	kidney:	n/a
4	chr14:39901919-39901969	SAEC	small airway:	n/a
5	chr14:39901919-39901969	HepG2	liver:	n/a
6	chr14:39901919-39901969	K562	blood:	n/a
7	chr14:39901919-39901969	SK-N-SH	brain:	n/a
8	chr14:39901919-39901969	ProgFib	skin:	n/a
9	chr14:39901919-39901969	H1-hESC	embryonic stem cell:	embryo
10	chr14:39901919-39901969	HL-60	blood:	n/a
11	chr14:39901919-39901969	GM12892	blood:	n/a
12	chr14:39901919-39901969	NB4	blood:	n/a
13	chr14:39901919-39901969	NT2-D1	testis:	n/a
14	chr14:39901919-39901969	GM06990	blood:	n/a
15	chr14:39901919-39901969	MCF-7	breast:	n/a
16	chr14:39901919-39901969	Hepatocyte	liver:	n/a
17	chr14:39901919-39901969	U87	brain:	n/a
18	chr14:39901919-39901969	SK-N-MC	brain:	n/a
19	chr14:39901919-39901969	HUVEC	blood vessel:	n/a
20	chr14:39901919-39901969	LNCaP	prostate:	n/a
21	chr14:39901919-39901969	HCT-116	colon:	n/a
22	chr14:39901919-39901969	HAEpiC	amniotic membrane:	n/a
23	chr14:39901919-39901969	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:39901919-39901969	Jurkat	blood:	n/a
25	chr14:39901919-39901969	GM19239	blood:	n/a
26	chr14:39901919-39901969	Caco-2	colon:	n/a
27	chr14:39901919-39901969	GM12878	blood:	n/a
28	chr14:39901919-39901969	ovcar-3	ovarian:	n/a
29	chr14:39901919-39901969	PrEC	prostate:	n/a
30	chr14:39901919-39901969	NHDF-neo	bronchial:	n/a
31	chr14:39901919-39901969	RPTEC	kidney:	n/a
32	chr14:39901919-39901969	BE2_C	brain:	n/a
33	chr14:39901919-39901969	AG09319	gingival:	n/a
34	chr14:39901919-39901969	IMR90	lung:	fetal
35	chr14:39901919-39901969	HEK293	kidney:	embryo
36	chr14:39901919-39901969	AG09309	skin:	n/a
37	chr14:39901919-39901969	NHBE	bronchial:	n/a
38	chr14:39901919-39901969	AG04449	skin:	fetal
39	chr14:39901919-39901969	MCF10A-Er-Src	breast:	n/a
40	chr14:39901919-39901969	AG04450	lung:	fetal
41	chr14:39901919-39901969	HCPEpiC	choroid plexus:	n/a
42	chr14:39901919-39901969	Hela-S3	cervix:	n/a
43	chr14:39901919-39901969	HRPEpiC	eye:	n/a
44	chr14:39901919-39901969	PFSK-1	brain:	n/a
45	chr14:39901919-39901969	HRCEpiC	kidney:	n/a
46	chr14:39901919-39901969	NH-A	brain:	n/a
47	chr14:39901919-39901969	BJ	skin:	n/a
48	chr14:39901919-39901969	HNPCEpiC	eye:	n/a
49	chr14:39901919-39901969	AG10803	skin:	n/a
50	chr14:39901919-39901969	SK-N-SH_RA	brain:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
2	chr14:39901662..39902484-chr5:33440251..33441215,2	Hela-S3	cervix:
3	chr14:39901783..39902523-chr20:60640746..60641582,2	Hela-S3	cervix:
4	chr14:39901734..39902665-chr6:43738259..43739159,2	Hela-S3	cervix:
5	chr14:39644686..39646338-chr14:39899658..39902040,2	K562	blood:
6	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
7	chr13:111367234..111367866-chr14:39901703..39902336,2	Hela-S3	cervix:
8	chr14:39901528..39902236-chr22:43010988..43011641,2	HCT-116	colon:
9	chr14:39901386..39902151-chr5:39074180..39074842,2	Hela-S3	cervix:
10	chr14:39901683..39902768-chr5:133339963..133341128,3	Hela-S3	cervix:
11	chr12:6643877..6644638-chr14:39901829..39902699,2	Hela-S3	cervix:
12	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:
13	chr14:39901137..39902070-chr7:56118572..56119330,2	Hela-S3	cervix:
14	chr14:39901703..39902317-chr9:139622158..139622665,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
FBXO33	TF binding region
FBXO33	CpG island
ENSG00000259083	Chromatin interaction
ENSG00000164327	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000233016	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000249572	Chromatin interaction
ENSG00000130699	Chromatin interaction
ENSG00000270022	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000213585	Chromatin interaction
ENSG00000271737	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1074117	1.00[AMR][1000 genomes]
rs11623676	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109123	1.00[AMR][1000 genomes]
rs17109135	1.00[AMR][1000 genomes]
rs17109146	1.00[AMR][1000 genomes]
rs17109165	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109170	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1950332	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955715	1.00[AMR][1000 genomes]
rs1955717	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955723	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955728	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2057140	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4438203	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899281	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899299	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57704406	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59310392	1.00[AMR][1000 genomes]
rs7142121	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153292	1.00[AMR][1000 genomes]
rs719456	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8005801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8012131	1.00[AMR][1000 genomes]
rs8016370	1.00[AMR][1000 genomes]
rs926805	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv3428481	chr14:39900201-39903099	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr14:39897800-39903000	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr14:39899000-39903000	Active TSS	Psoas Muscle	Psoas
3	chr14:39899000-39903000	Active TSS	Right Atrium	heart
4	chr14:39899000-39903200	Active TSS	Aorta	Aorta
5	chr14:39899000-39903200	Active TSS	Ovary	ovary
6	chr14:39899200-39903000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:39899200-39903200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr14:39899200-39903200	Active TSS	NHLF	lung
9	chr14:39899400-39902600	Active TSS	Brain Hippocampus Middle	brain
10	chr14:39899400-39902600	Active TSS	Fetal Heart	heart
11	chr14:39899400-39902800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:39899400-39902800	Active TSS	Rectal Smooth Muscle	rectum
13	chr14:39899400-39903000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:39899400-39903200	Active TSS	Right Ventricle	heart
15	chr14:39899600-39902800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:39899600-39902800	Active TSS	NHDF-Ad	bronchial
17	chr14:39899600-39903000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:39899600-39903000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr14:39899600-39903000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:39899600-39903000	Active TSS	Left Ventricle	heart
21	chr14:39899800-39902400	Active TSS	Brain Substantia Nigra	brain
22	chr14:39899800-39902800	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:39899800-39902800	Active TSS	GM12878-XiMat	blood
24	chr14:39899800-39903000	Active TSS	HSMMtube	muscle
25	chr14:39899800-39903200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:39899800-39903200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr14:39899800-39903200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:39899800-39903200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:39899800-39903200	Active TSS	Stomach Mucosa	stomach
30	chr14:39899800-39903200	Active TSS	HSMM	muscle
31	chr14:39899800-39903400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr14:39900000-39902600	Active TSS	A549	lung
33	chr14:39900000-39902800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:39900000-39902800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:39900000-39902800	Active TSS	Colon Smooth Muscle	Colon
36	chr14:39900000-39903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr14:39900000-39903200	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr14:39900000-39903200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr14:39900000-39903200	Active TSS	Fetal Stomach	stomach
40	chr14:39900200-39902000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr14:39900200-39902000	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr14:39900200-39902200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:39900200-39902200	Active TSS	Thymus	Thymus
44	chr14:39900200-39902400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:39900200-39902400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:39900200-39902400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:39900200-39902400	Active TSS	Fetal Brain Male	brain
48	chr14:39900200-39902400	Active TSS	Fetal Brain Female	brain
49	chr14:39900200-39902600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:39900200-39902600	Active TSS	Muscle Satellite Cultured Cells	--

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