Variant report

Variant	rs1955724
Chromosome Location	chr14:39902610-39902611
allele	A/G
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	RCOR1	chr14:39901403-39902646	K562	blood:	n/a	n/a
3	RCOR1	chr14:39900421-39902746	K562	blood:	n/a	n/a
4	NFIC	chr14:39901212-39902816	HepG2	liver:	n/a	n/a
5	MAX	chr14:39900350-39902625	HepG2	liver:	n/a	n/a
6	EP300	chr14:39901795-39902700	HepG2	liver:	n/a	chr14:39902667-39902681 chr14:39902405-39902419 chr14:39902408-39902422
7	ELF1	chr14:39901065-39902670	MCF-7	breast:	n/a	chr14:39902114-39902126
8	CEBPB	chr14:39901393-39902704	Hela-S3	cervix:	n/a	n/a
9	MBD4	chr14:39901240-39903267	HepG2	liver:	n/a	n/a
10	FOXA2	chr14:39901178-39902986	HepG2	liver:	n/a	n/a
11	MTA3	chr14:39901205-39902688	GM12878	blood:	n/a	n/a
12	MYBL2	chr14:39901117-39903114	HepG2	liver:	n/a	n/a
13	ARID3A	chr14:39901350-39903055	HepG2	liver:	n/a	n/a
14	TBP	chr14:39901224-39902647	Hela-S3	cervix:	n/a	n/a
15	REST	chr14:39900269-39902686	H1-neurons	neurons:	n/a	chr14:39902231-39902238 chr14:39902332-39902350
16	CEBPB	chr14:39901407-39902626	HepG2	liver:	n/a	n/a
17	JUND	chr14:39901363-39902629	HepG2	liver:	n/a	chr14:39902308-39902322
18	HDAC2	chr14:39900390-39902978	HepG2	liver:	n/a	chr14:39902402-39902416 chr14:39902667-39902681 chr14:39902395-39902409 chr14:39902398-39902412 chr14:39902403-39902417 chr14:39902399-39902413 chr14:39902666-39902680 chr14:39902400-39902414
19	CHD1	chr14:39900053-39903161	IMR90	lung:	n/a	n/a
20	ZNF384	chr14:39901911-39902635	GM12878	blood:	n/a	n/a
21	NFIC	chr14:39901308-39902814	GM12878	blood:	n/a	n/a
22	KAP1	chr14:39901904-39902774	HEK293	kidney:	n/a	n/a
23	RFX5	chr14:39901178-39902635	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr14:39901914-39902644	HepG2	liver:	n/a	n/a
25	CHD1	chr14:39900227-39902684	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:39900381-39902829	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:39900328-39902707	H1-hESC	embryonic stem cell:	n/a	n/a
28	NFIC	chr14:39901211-39902763	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:39900402-39903174	GM12878	blood:	n/a	n/a
30	RUNX3	chr14:39901158-39902767	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:39900195-39902639	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr14:39899889-39903076	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:39900018-39903209	GM12891	blood:	n/a	n/a
34	RAD21	chr14:39901971-39902778	Hela-S3	cervix:	n/a	n/a
35	STAT3	chr14:39901959-39902670	Hela-S3	cervix:	n/a	chr14:39902122-39902134
36	FOS	chr14:39902458-39902644	MCF10A-Er-Src	breast:	n/a	n/a
37	RUNX3	chr14:39901178-39902811	GM12878	blood:	n/a	n/a
38	HCFC1	chr14:39900213-39902697	Hela-S3	cervix:	n/a	n/a
39	TEAD4	chr14:39901237-39902703	HepG2	liver:	n/a	n/a
40	RFX5	chr14:39900724-39902620	HepG2	liver:	n/a	n/a
41	TBP	chr14:39900753-39902635	HepG2	liver:	n/a	n/a
42	POLR2A	chr14:39900584-39903973	MCF10A-Er-Src	breast:	n/a	n/a
43	SMC3	chr14:39901328-39902672	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr14:39901322-39902981	Hela-S3	cervix:	n/a	n/a
45	MYBL2	chr14:39899907-39902913	HepG2	liver:	n/a	n/a
46	SREBP1	chr14:39901045-39904492	GM12878	blood:	n/a	chr14:39901741-39901751 chr14:39903823-39903837
47	SP1	chr14:39901151-39902712	HepG2	liver:	n/a	chr14:39902135-39902145 chr14:39902126-39902135 chr14:39901382-39901394 chr14:39901799-39901810 chr14:39902135-39902145 chr14:39901382-39901394 chr14:39901379-39901393
48	MYC	chr14:39901369-39902716	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr14:39900671-39903097	MCF10A-Er-Src	breast:	n/a	n/a
50	PML	chr14:39901040-39902689	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
2	chr14:39901734..39902665-chr6:43738259..43739159,2	Hela-S3	cervix:
3	chr14:39572117..39574614-chr14:39901062..39903055,2	MCF-7	breast:
4	chr14:39902105..39903035-chr20:442777..443759,2	Hela-S3	cervix:
5	chr14:39901683..39902768-chr5:133339963..133341128,3	Hela-S3	cervix:
6	chr12:6643877..6644638-chr14:39901829..39902699,2	Hela-S3	cervix:
7	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:

Variant related genes	Relation type
FBXO33	TF binding region
ENSG00000182400	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000111640	Chromatin interaction
ENSG00000271737	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000125875	Chromatin interaction
ENSG00000213585	Chromatin interaction
ENSG00000112715	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72675488	0.94[EUR][1000 genomes]
rs72677647	0.98[EUR][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:123 , 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	chr14:39899400-39902800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:39899400-39902800	Active TSS	Rectal Smooth Muscle	rectum
11	chr14:39899400-39903000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:39899400-39903200	Active TSS	Right Ventricle	heart
13	chr14:39899600-39902800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:39899600-39902800	Active TSS	NHDF-Ad	bronchial
15	chr14:39899600-39903000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:39899600-39903000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:39899600-39903000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:39899600-39903000	Active TSS	Left Ventricle	heart
19	chr14:39899800-39902800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr14:39899800-39902800	Active TSS	GM12878-XiMat	blood
21	chr14:39899800-39903000	Active TSS	HSMMtube	muscle
22	chr14:39899800-39903200	Active TSS	H1 Cell Line	embryonic stem cell
23	chr14:39899800-39903200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:39899800-39903200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:39899800-39903200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:39899800-39903200	Active TSS	Stomach Mucosa	stomach
27	chr14:39899800-39903200	Active TSS	HSMM	muscle
28	chr14:39899800-39903400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr14:39900000-39902800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr14:39900000-39902800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr14:39900000-39902800	Active TSS	Colon Smooth Muscle	Colon
32	chr14:39900000-39903000	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:39900000-39903200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:39900000-39903200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr14:39900000-39903200	Active TSS	Fetal Stomach	stomach
36	chr14:39900200-39902800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr14:39900200-39902800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:39900200-39902800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:39900200-39902800	Active TSS	Hela-S3	cervix
40	chr14:39900200-39903000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr14:39900200-39903000	Active TSS	Fetal Intestine Large	intestine
42	chr14:39900200-39903000	Active TSS	Lung	lung
43	chr14:39900200-39903000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr14:39900200-39903200	Active TSS	H9 Cell Line	embryonic stem cell
45	chr14:39900200-39903200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr14:39900200-39903200	Active TSS	Pancreas	Pancrea
47	chr14:39900400-39902800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr14:39900400-39902800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:39900400-39902800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr14:39900400-39903000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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