Variant report

Variant	rs17101287
Chromosome Location	chr14:64010406-64010407
allele	C/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	POLR2A	chr14:64009765-64011031	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:64009030-64010730	Hela-S3	cervix:	n/a	n/a
3	NFYB	chr14:64009873-64010579	K562	blood:	n/a	chr14:64010147-64010162 chr14:64010148-64010158 chr14:64010149-64010161
4	GABPA	chr14:64009892-64010728	H1-hESC	embryonic stem cell:	n/a	chr14:64010108-64010117
5	MAX	chr14:64009732-64010748	NB4	blood:	n/a	n/a
6	ARID3A	chr14:64009761-64010493	HepG2	liver:	n/a	n/a
7	SIN3A	chr14:64008754-64010969	H1-hESC	embryonic stem cell:	n/a	chr14:64010095-64010104 chr14:64010523-64010534
8	POLR2A	chr14:64009580-64010875	PFSK-1	brain:	n/a	n/a
9	BRCA1	chr14:64009928-64010549	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr14:64010145-64010646	U87	brain:	n/a	n/a
11	BRCA1	chr14:64010010-64010574	HepG2	liver:	n/a	n/a
12	TAF1	chr14:64009791-64010574	GM12878	blood:	n/a	n/a
13	NFIC	chr14:64010156-64010587	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:64009198-64010639	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr14:64010240-64010468	A549	lung:	n/a	n/a
16	STAT3	chr14:64010357-64010441	MCF10A-Er-Src	breast:	n/a	chr14:64010379-64010399
17	POLR2A	chr14:64009798-64010617	IMR90	lung:	n/a	n/a
18	CTCF	chr14:64010360-64010510	AG04449	skin:	n/a	n/a
19	GABPA	chr14:64009842-64010730	HL-60	blood:	n/a	chr14:64010108-64010117
20	POLR2A	chr14:64009677-64010671	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:64009547-64010665	GM12878	blood:	n/a	n/a
22	HEY1	chr14:64009833-64010516	HepG2	liver:	n/a	n/a
23	GABPA	chr14:64009857-64010571	HL-60	blood:	n/a	chr14:64010108-64010117
24	POLR2A	chr14:64009844-64010643	GM12892	blood:	n/a	n/a
25	FOXM1	chr14:64009475-64010858	MCF-7	breast:	n/a	n/a
26	MAZ	chr14:64009802-64010500	HepG2	liver:	n/a	n/a
27	POLR2A	chr14:64009821-64010628	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF12	chr14:64009632-64010683	ECC-1	luminal epithelium:	n/a	chr14:64009815-64009823
29	RCOR1	chr14:64010051-64010459	K562	blood:	n/a	n/a
30	POLR2A	chr14:64009630-64010873	GM19099	blood:	n/a	n/a
31	CREB1	chr14:64009614-64010691	HepG2	liver:	n/a	n/a
32	ZNF263	chr14:64009672-64010618	HEK293-T-REx	kidney:	n/a	chr14:64009940-64009949 chr14:64009892-64009901
33	POLR2A	chr14:64008897-64010587	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr14:64010199-64010491	SK-N-SH_RA	brain:	n/a	n/a
35	MAFK	chr14:64009970-64010420	HepG2	liver:	n/a	n/a
36	SP2	chr14:64009896-64010524	HepG2	liver:	n/a	chr14:64010147-64010157 chr14:64010097-64010112
37	POLR2A	chr14:64009658-64010809	GM12878	blood:	n/a	n/a
38	MAX	chr14:64009604-64010690	HepG2	liver:	n/a	n/a
39	SIN3AK20	chr14:64009929-64010440	A549	lung:	n/a	n/a
40	POLR2A	chr14:64009813-64010914	K562	blood:	n/a	n/a
41	ELF1	chr14:64009613-64010766	HCT-116	colon:	n/a	chr14:64009858-64009867 chr14:64009852-64009861 chr14:64010320-64010329 chr14:64009723-64009732 chr14:64009855-64009864 chr14:64009853-64009865 chr14:64010098-64010110 chr14:64010102-64010111 chr14:64009718-64009730
42	POLR2A	chr14:64009338-64010820	HepG2	liver:	n/a	n/a
43	RELA	chr14:64009863-64010784	GM15510	blood:	n/a	n/a
44	POLR2A	chr14:64009704-64010538	K562	blood:	n/a	n/a
45	FOS	chr14:64009957-64010424	GM12878	blood:	n/a	n/a
46	GTF2F1	chr14:64009918-64011235	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:64009824-64011935	GM12891	blood:	n/a	n/a
48	TEAD4	chr14:64009604-64010417	ECC-1	luminal epithelium:	n/a	chr14:64009812-64009821
49	TAF1	chr14:64009924-64010618	K562	blood:	n/a	n/a
50	YY1	chr14:64009678-64010586	GM12878	blood:	n/a	chr14:64009723-64009732 chr14:64009856-64009867 chr14:64009858-64009867 chr14:64009963-64009977 chr14:64009852-64009866 chr14:64009726-64009735 chr14:64009855-64009864 chr14:64010103-64010117

No.	Distal block	Cell Line	Cell type
1	chr14:64007697..64011476-chr14:64104829..64109373,5	K562	blood:
2	chr14:64009982..64010703-chr5:89705356..89706024,2	HCT-116	colon:
3	chr14:64008866..64010910-chr14:64088046..64091397,3	MCF-7	breast:
4	chr14:64008001..64011840-chr14:64106623..64112419,9	MCF-7	breast:
5	chr14:63999199..64001169-chr14:64010326..64011894,2	K562	blood:
6	chr14:64008641..64011329-chr14:64106976..64109877,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOJ-1	chr14:64010287-64011382	ENSG00000261242.1

Variant related genes	Relation type
PPP2R5E	TF binding region
ENSG00000255647	Chromatin interaction
ENSG00000140006	Chromatin interaction
ENSG00000153140	Chromatin interaction
ENSG00000206822	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1255634	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28894732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72714300	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72716303	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72716310	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72716311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716321	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72716326	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	esv3372681	chr14:64008624-64011172	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr14:64007800-64011400	Active TSS	NHLF	lung
2	chr14:64007800-64011600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:64008000-64011200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:64008000-64011200	Active TSS	Fetal Intestine Small	intestine
5	chr14:64008000-64011600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:64008000-64011600	Active TSS	Right Ventricle	heart
7	chr14:64008200-64010800	Active TSS	Fetal Brain Male	brain
8	chr14:64008200-64011200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:64008200-64011200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:64008200-64011200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:64008200-64011200	Active TSS	Right Atrium	heart
12	chr14:64008200-64011400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr14:64008200-64011600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:64008200-64011600	Active TSS	HMEC	breast
15	chr14:64008200-64011800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:64008200-64011800	Active TSS	Stomach Smooth Muscle	stomach
17	chr14:64008400-64010800	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr14:64008400-64010800	Active TSS	Brain Angular Gyrus	brain
19	chr14:64008400-64010800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr14:64008400-64011000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:64008400-64011000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr14:64008400-64011200	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr14:64008400-64011200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr14:64008400-64011200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr14:64008400-64011200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:64008400-64011200	Active TSS	Fetal Kidney	kidney
27	chr14:64008400-64011200	Active TSS	Fetal Stomach	stomach
28	chr14:64008400-64011200	Active TSS	HSMM	muscle
29	chr14:64008400-64011400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:64008400-64011400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr14:64008400-64011600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:64008400-64011600	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr14:64008400-64011600	Active TSS	A549	lung
34	chr14:64008400-64011600	Active TSS	K562	blood
35	chr14:64008400-64011600	Active TSS	NH-A	brain
36	chr14:64008400-64011600	Active TSS	NHDF-Ad	bronchial
37	chr14:64008400-64011800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr14:64008600-64011000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr14:64008600-64011000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:64008600-64011000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:64008600-64011000	Active TSS	Muscle Satellite Cultured Cells	--
42	chr14:64008600-64011000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:64008600-64011000	Active TSS	Aorta	Aorta
44	chr14:64008600-64011000	Active TSS	Brain Hippocampus Middle	brain
45	chr14:64008600-64011200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:64008600-64011200	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr14:64008600-64011200	Active TSS	Fetal Intestine Large	intestine
48	chr14:64008600-64011400	Active TSS	Fetal Lung	lung
49	chr14:64008600-64011400	Active TSS	GM12878-XiMat	blood
50	chr14:64008600-64011400	Active TSS	NHEK	skin

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