Variant report

Variant	rs1955723
Chromosome Location	chr14:39902435-39902436
allele	C/T
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	CREB1	chr14:39900006-39902640	HepG2	liver:	n/a	n/a
2	RAD21	chr14:39901870-39902524	HepG2	liver:	n/a	n/a
3	RCOR1	chr14:39901403-39902646	K562	blood:	n/a	n/a
4	RCOR1	chr14:39900421-39902746	K562	blood:	n/a	n/a
5	NFIC	chr14:39901212-39902816	HepG2	liver:	n/a	n/a
6	MAX	chr14:39900350-39902625	HepG2	liver:	n/a	n/a
7	JUND	chr14:39900327-39902438	GM12878	blood:	n/a	chr14:39902308-39902322 chr14:39900741-39900750
8	POLR2A	chr14:39901782-39902503	HepG2	liver:	n/a	n/a
9	MYC	chr14:39900597-39902533	K562	blood:	n/a	n/a
10	USF1	chr14:39901286-39902457	HCT-116	colon:	n/a	chr14:39901741-39901750 chr14:39901741-39901750 chr14:39901740-39901749 chr14:39901739-39901752
11	MAX	chr14:39900408-39902515	Hela-S3	cervix:	n/a	n/a
12	TBL1XR1	chr14:39901345-39902534	GM12878	blood:	n/a	n/a
13	EP300	chr14:39901795-39902700	HepG2	liver:	n/a	chr14:39902667-39902681 chr14:39902405-39902419 chr14:39902408-39902422
14	SIN3A	chr14:39900264-39902555	H1-hESC	embryonic stem cell:	n/a	n/a
15	WRNIP1	chr14:39901846-39902598	GM12878	blood:	n/a	n/a
16	POLR2A	chr14:39901768-39902469	GM12891	blood:	n/a	n/a
17	ELF1	chr14:39901065-39902670	MCF-7	breast:	n/a	chr14:39902114-39902126
18	MAX	chr14:39900459-39902486	MCF-7	breast:	n/a	n/a
19	SPI1	chr14:39901986-39902512	HL-60	blood:	n/a	chr14:39902411-39902424
20	MTA3	chr14:39901788-39902436	GM12878	blood:	n/a	n/a
21	TCF12	chr14:39901345-39902444	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr14:39901798-39902522	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr14:39901804-39902509	GM12891	blood:	n/a	n/a
24	POLR2A	chr14:39900483-39902500	GM15510	blood:	n/a	n/a
25	RCOR1	chr14:39900795-39902608	HepG2	liver:	n/a	n/a
26	NFIC	chr14:39901587-39902529	ECC-1	luminal epithelium:	n/a	n/a
27	CEBPB	chr14:39901393-39902704	Hela-S3	cervix:	n/a	n/a
28	MBD4	chr14:39901240-39903267	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:39900466-39902466	H1-neurons	neurons:	n/a	n/a
30	FOXA2	chr14:39901178-39902986	HepG2	liver:	n/a	n/a
31	ELF1	chr14:39901132-39902571	HCT-116	colon:	n/a	chr14:39902114-39902126
32	MTA3	chr14:39901205-39902688	GM12878	blood:	n/a	n/a
33	MYBL2	chr14:39901117-39903114	HepG2	liver:	n/a	n/a
34	ELK1	chr14:39901211-39902481	Hela-S3	cervix:	n/a	n/a
35	ARID3A	chr14:39901350-39903055	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:39900968-39902493	HUVEC	blood vessel:	n/a	n/a
37	PML	chr14:39901799-39902448	GM12878	blood:	n/a	n/a
38	CHD1	chr14:39902278-39902561	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAFK	chr14:39900890-39902438	Hela-S3	cervix:	n/a	n/a
40	STAT3	chr14:39902060-39902535	MCF10A-Er-Src	breast:	n/a	chr14:39902122-39902134
41	TBP	chr14:39901224-39902647	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr14:39901941-39902457	HepG2	liver:	n/a	n/a
43	RELA	chr14:39901328-39902478	GM19099	blood:	n/a	n/a
44	REST	chr14:39900269-39902686	H1-neurons	neurons:	n/a	chr14:39902231-39902238 chr14:39902332-39902350
45	CTCF	chr14:39902360-39902510	RPTEC	kidney:	n/a	n/a
46	POLR2A	chr14:39900548-39902566	GM19193	blood:	n/a	n/a
47	MAZ	chr14:39900537-39902507	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr14:39900331-39902601	GM12878	blood:	n/a	chr14:39902031-39902040
49	CEBPB	chr14:39901407-39902626	HepG2	liver:	n/a	n/a
50	POLR2A	chr14:39901774-39902481	HCT-116	colon:	n/a	n/a

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	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
6	chr14:39902105..39903035-chr20:442777..443759,2	Hela-S3	cervix:
7	chr14:39901683..39902768-chr5:133339963..133341128,3	Hela-S3	cervix:
8	chr12:6643877..6644638-chr14:39901829..39902699,2	Hela-S3	cervix:
9	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:

Variant related genes	Relation type
FBXO33	TF binding region
ENSG00000130699	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000213585	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000249572	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000271737	Chromatin interaction
ENSG00000125875	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000182400	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	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11623676	1.00[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1950332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955715	1.00[AMR][1000 genomes]
rs1955717	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1955728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2057140	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4438203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899281	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899288	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899299	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4902644	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57704406	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59310392	1.00[AMR][1000 genomes]
rs7142121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7153292	1.00[AMR][1000 genomes]
rs719456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8005801	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8012131	1.00[AMR][1000 genomes]
rs8016370	1.00[AMR][1000 genomes]
rs926805	1.00[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:126 , 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	chr14:39899800-39902800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr14:39899800-39902800	Active TSS	GM12878-XiMat	blood
23	chr14:39899800-39903000	Active TSS	HSMMtube	muscle
24	chr14:39899800-39903200	Active TSS	H1 Cell Line	embryonic stem cell
25	chr14:39899800-39903200	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr14:39899800-39903200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:39899800-39903200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:39899800-39903200	Active TSS	Stomach Mucosa	stomach
29	chr14:39899800-39903200	Active TSS	HSMM	muscle
30	chr14:39899800-39903400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr14:39900000-39902600	Active TSS	A549	lung
32	chr14:39900000-39902800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:39900000-39902800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr14:39900000-39902800	Active TSS	Colon Smooth Muscle	Colon
35	chr14:39900000-39903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:39900000-39903200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr14:39900000-39903200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr14:39900000-39903200	Active TSS	Fetal Stomach	stomach
39	chr14:39900200-39902600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:39900200-39902600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr14:39900200-39902600	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:39900200-39902600	Active TSS	Esophagus	oesophagus
43	chr14:39900200-39902600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr14:39900200-39902600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr14:39900200-39902800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:39900200-39902800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:39900200-39902800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:39900200-39902800	Active TSS	Hela-S3	cervix
49	chr14:39900200-39903000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:39900200-39903000	Active TSS	Fetal Intestine Large	intestine

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