Variant report

Variant	rs41317314
Chromosome Location	chr14:39736277-39736278
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	NR2F2	chr14:39736023-39736469	K562	blood:	n/a	n/a
2	POLR2A	chr14:39735933-39736820	K562	blood:	n/a	n/a
3	EP300	chr14:39735032-39737269	HepG2	liver:	n/a	chr14:39735896-39735905 chr14:39737034-39737044 chr14:39736087-39736096 chr14:39735369-39735378 chr14:39736103-39736119
4	RELA	chr14:39735507-39737116	GM19099	blood:	n/a	n/a
5	JUND	chr14:39735660-39737156	K562	blood:	n/a	chr14:39735722-39735732 chr14:39735721-39735732 chr14:39735723-39735731 chr14:39735722-39735732
6	POLR2A	chr14:39735682-39736859	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:39735427-39736985	MCF-7	breast:	n/a	n/a
8	SP1	chr14:39735356-39737050	HepG2	liver:	n/a	chr14:39736046-39736056 chr14:39736371-39736381 chr14:39736332-39736346 chr14:39736046-39736055 chr14:39736255-39736262 chr14:39736045-39736057
9	TAF1	chr14:39736220-39736806	GM12891	blood:	n/a	n/a
10	NFIC	chr14:39736035-39736507	GM12878	blood:	n/a	n/a
11	HDAC2	chr14:39735425-39737068	MCF-7	breast:	n/a	chr14:39736971-39736979
12	RCOR1	chr14:39735433-39737157	HepG2	liver:	n/a	n/a
13	ELF1	chr14:39735580-39737002	GM12878	blood:	n/a	chr14:39736089-39736098 chr14:39736525-39736537 chr14:39736086-39736095 chr14:39735796-39735808 chr14:39736303-39736314 chr14:39736091-39736103
14	JUND	chr14:39735434-39736909	SK-N-SH	brain:	n/a	chr14:39735722-39735732 chr14:39735721-39735732 chr14:39735723-39735731 chr14:39735722-39735732
15	CEBPD	chr14:39735476-39736873	HepG2	liver:	n/a	n/a
16	CHD2	chr14:39736037-39737057	H1-hESC	embryonic stem cell:	n/a	chr14:39736859-39736869 chr14:39736513-39736523
17	POLR2A	chr14:39735711-39736883	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr14:39735751-39736840	K562	blood:	n/a	n/a
19	HNF4G	chr14:39735126-39736973	HepG2	liver:	n/a	chr14:39735822-39735837 chr14:39735635-39735650 chr14:39736115-39736137 chr14:39735636-39735648 chr14:39735636-39735648 chr14:39735815-39735830 chr14:39735822-39735837 chr14:39735822-39735836 chr14:39735635-39735650 chr14:39735823-39735831 chr14:39736817-39736839 chr14:39735823-39735835 chr14:39735822-39735836 chr14:39735821-39735829 chr14:39735823-39735835 chr14:39736822-39736834 chr14:39735636-39735648 chr14:39735633-39735651 chr14:39735815-39735830 chr14:39735636-39735649 chr14:39736821-39736834 chr14:39735822-39735837 chr14:39735822-39735837 chr14:39736821-39736834
20	ELF1	chr14:39735536-39737047	MCF-7	breast:	n/a	chr14:39736089-39736098 chr14:39736525-39736537 chr14:39736086-39736095 chr14:39735796-39735808 chr14:39736303-39736314 chr14:39736091-39736103
21	POLR2A	chr14:39736066-39736792	K562	blood:	n/a	n/a
22	SP1	chr14:39735473-39736868	A549	lung:	n/a	chr14:39736046-39736056 chr14:39736371-39736381 chr14:39736332-39736346 chr14:39736046-39736055 chr14:39736255-39736262 chr14:39736045-39736057
23	E2F4	chr14:39735719-39736990	K562	blood:	n/a	chr14:39735898-39735908 chr14:39736655-39736662 chr14:39736325-39736334 chr14:39736087-39736097
24	MXI1	chr14:39735203-39737290	Hela-S3	cervix:	n/a	chr14:39736629-39736644 chr14:39737052-39737061 chr14:39737050-39737059
25	PML	chr14:39735367-39737281	GM12878	blood:	n/a	n/a
26	RAD21	chr14:39735734-39736792	H1-hESC	embryonic stem cell:	n/a	chr14:39736491-39736505 chr14:39736455-39736464 chr14:39736102-39736116
27	ATF2	chr14:39736030-39736675	GM12878	blood:	n/a	n/a
28	TAF1	chr14:39736073-39736681	SK-N-SH	brain:	n/a	n/a
29	TBL1XR1	chr14:39735354-39736931	GM12878	blood:	n/a	n/a
30	POLR2A	chr14:39735920-39736851	GM12891	blood:	n/a	n/a
31	MXI1	chr14:39734950-39737526	GM12878	blood:	n/a	chr14:39736629-39736644 chr14:39737052-39737061 chr14:39737050-39737059
32	RFX5	chr14:39735179-39736708	HepG2	liver:	n/a	chr14:39736627-39736644 chr14:39736628-39736643 chr14:39736628-39736643 chr14:39736628-39736643
33	TAF1	chr14:39735518-39736989	A549	lung:	n/a	n/a
34	RELA	chr14:39735481-39737029	GM18951	blood:	n/a	n/a
35	SP1	chr14:39736042-39736768	GM12878	blood:	n/a	chr14:39736046-39736056 chr14:39736371-39736381 chr14:39736332-39736346 chr14:39736046-39736055 chr14:39736255-39736262 chr14:39736045-39736057
36	POLR2A	chr14:39735480-39736907	ECC-1	luminal epithelium:	n/a	n/a
37	POU2F2	chr14:39736092-39736850	GM12891	blood:	n/a	chr14:39736516-39736528
38	POLR2A	chr14:39735593-39736882	GM12878	blood:	n/a	n/a
39	YY1	chr14:39735639-39736518	ECC-1	luminal epithelium:	n/a	chr14:39736098-39736109 chr14:39735915-39735926 chr14:39736089-39736098 chr14:39736086-39736097 chr14:39736086-39736095 chr14:39736093-39736107
40	POLR2A	chr14:39735892-39736931	U87	brain:	n/a	n/a
41	POLR2A	chr14:39735449-39737085	Hela-S3	cervix:	n/a	n/a
42	SIX5	chr14:39736183-39736616	A549	lung:	n/a	n/a
43	TAF1	chr14:39736014-39736745	H1-neurons	neurons:	n/a	n/a
44	CHD1	chr14:39735481-39737156	GM12878	blood:	n/a	chr14:39736859-39736869 chr14:39736513-39736523
45	POLR2A	chr14:39735089-39736956	NB4	blood:	n/a	n/a
46	EGR1	chr14:39736180-39736410	GM12878	blood:	n/a	n/a
47	MAX	chr14:39735321-39737322	HepG2	liver:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
48	POLR2A	chr14:39735492-39737015	GM12892	blood:	n/a	n/a
49	POLR2A	chr14:39736040-39736373	U87	brain:	n/a	n/a
50	HNF4A	chr14:39735482-39736709	HepG2	liver:	n/a	chr14:39735822-39735837 chr14:39735635-39735650 chr14:39736115-39736137 chr14:39735636-39735648 chr14:39735636-39735648 chr14:39735815-39735830 chr14:39735822-39735837 chr14:39735822-39735836 chr14:39735635-39735650 chr14:39735823-39735831 chr14:39735823-39735835 chr14:39735822-39735836 chr14:39735821-39735829 chr14:39735823-39735835 chr14:39735636-39735648 chr14:39735633-39735651 chr14:39735815-39735830 chr14:39735636-39735649 chr14:39735821-39735836 chr14:39735822-39735837 chr14:39735822-39735837

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:39736238-39736288	HRE	kidney:	n/a
2	chr14:39736238-39736288	NH-A	brain:	n/a
3	chr14:39736238-39736288	GM19239	blood:	n/a
4	chr14:39736238-39736288	HCM	heart:	n/a
5	chr14:39736238-39736288	HMEC	breast:	n/a
6	chr14:39736238-39736288	RPTEC	kidney:	n/a
7	chr14:39736238-39736288	HIPEpiC	eye:	n/a
8	chr14:39736238-39736288	SKMC	muscle:	n/a
9	chr14:39736238-39736288	SK-N-SH	brain:	n/a
10	chr14:39736238-39736288	Caco-2	colon:	n/a
11	chr14:39736238-39736288	GM06990	blood:	n/a
12	chr14:39736238-39736288	K562	blood:	n/a
13	chr14:39736238-39736288	Hela-S3	cervix:	n/a
14	chr14:39736238-39736288	AG09319	gingival:	n/a
15	chr14:39736238-39736288	ovcar-3	ovarian:	n/a
16	chr14:39736238-39736288	H1-hESC	embryonic stem cell:	embryo
17	chr14:39736238-39736288	GM12878	blood:	n/a
18	chr14:39736238-39736288	CMK	blood:	n/a
19	chr14:39736238-39736288	LNCaP	prostate:	n/a
20	chr14:39736238-39736288	SK-N-MC	brain:	n/a
21	chr14:39736238-39736288	BJ	skin:	n/a
22	chr14:39736238-39736288	HepG2	liver:	n/a
23	chr14:39736238-39736288	AG10803	skin:	n/a
24	chr14:39736238-39736288	NB4	blood:	n/a
25	chr14:39736238-39736288	NHDF-neo	bronchial:	n/a
26	chr14:39736238-39736288	SK-N-SH_RA	brain:	n/a
27	chr14:39736238-39736288	IMR90	lung:	fetal
28	chr14:39736238-39736288	HCPEpiC	choroid plexus:	n/a
29	chr14:39736238-39736288	NT2-D1	testis:	n/a
30	chr14:39736238-39736288	MCF-7	breast:	n/a
31	chr14:39736238-39736288	Jurkat	blood:	n/a
32	chr14:39736238-39736288	MCF10A-Er-Src	breast:	n/a
33	chr14:39736238-39736288	U87	brain:	n/a
34	chr14:39736238-39736288	HRPEpiC	eye:	n/a
35	chr14:39736238-39736288	A549	lung:	n/a
36	chr14:39736238-39736288	HPAEpiC	pulmonary alveolar:	n/a
37	chr14:39736238-39736288	PFSK-1	brain:	n/a
38	chr14:39736238-39736288	HEK293	kidney:	embryo
39	chr14:39736238-39736288	ProgFib	skin:	n/a
40	chr14:39736238-39736288	AG04449	skin:	fetal
41	chr14:39736238-39736288	SAEC	small airway:	n/a
42	chr14:39736238-39736288	PrEC	prostate:	n/a
43	chr14:39736238-39736288	AG09309	skin:	n/a
44	chr14:39736238-39736288	HUVEC	blood vessel:	n/a
45	chr14:39736238-39736288	HL-60	blood:	n/a
46	chr14:39736238-39736288	AG04450	lung:	fetal
47	chr14:39736238-39736288	T-47D	breast:	n/a
48	chr14:39736238-39736288	HCF	heart:	n/a
49	chr14:39736238-39736288	Hepatocyte	liver:	n/a
50	chr14:39736238-39736288	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
2	chr14:39642546..39647225-chr14:39733415..39737853,13	MCF-7	breast:
3	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
4	chr14:39734882..39737237-chr14:39899749..39901875,2	MCF-7	breast:
5	chr14:39733752..39736599-chr6:27859439..27860958,2	K562	blood:
6	chr14:39734713..39738415-chr14:39740999..39745819,7	MCF-7	breast:
7	chr14:39639668..39641561-chr14:39735977..39737875,2	K562	blood:
8	chr14:39680164..39682554-chr14:39734526..39737073,3	MCF-7	breast:
9	chr13:50464224..50465231-chr14:39736139..39736859,3	MCF-7	breast:
10	chr12:46385759..46386714-chr14:39735705..39736361,2	Hela-S3	cervix:
11	chr14:39570644..39573336-chr14:39733309..39737125,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258940	TF binding region
CTAGE5	TF binding region
CTAGE5	CpG island
ENSG00000258940	CpG island
ENSG00000165355	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000139218	Chromatin interaction
ENSG00000181358	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000258671	Chromatin interaction
ENSG00000100941	Chromatin interaction
ENSG00000258651	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17855896	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr14:39734200-39737200	Active TSS	Fetal Heart	heart
2	chr14:39734400-39737200	Active TSS	Fetal Stomach	stomach
3	chr14:39734400-39737400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr14:39734400-39737600	Active TSS	Brain Anterior Caudate	brain
5	chr14:39734400-39737600	Active TSS	Brain Cingulate Gyrus	brain
6	chr14:39734400-39737600	Active TSS	Fetal Muscle Leg	muscle
7	chr14:39734400-39737600	Active TSS	Right Ventricle	heart
8	chr14:39734400-39737600	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr14:39734400-39737800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:39734400-39737800	Active TSS	Right Atrium	heart
11	chr14:39734400-39738000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:39734400-39738200	Active TSS	Aorta	Aorta
13	chr14:39734600-39737200	Active TSS	Fetal Kidney	kidney
14	chr14:39734600-39737400	Active TSS	Brain Substantia Nigra	brain
15	chr14:39734600-39737600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:39734600-39737600	Active TSS	Brain Hippocampus Middle	brain
17	chr14:39734600-39738200	Active TSS	HSMMtube	muscle
18	chr14:39734600-39738800	Active TSS	Psoas Muscle	Psoas
19	chr14:39734800-39738200	Active TSS	Brain Angular Gyrus	brain
20	chr14:39735000-39737200	Active TSS	Rectal Smooth Muscle	rectum
21	chr14:39735000-39737400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr14:39735000-39737800	Active TSS	Colonic Mucosa	Colon
23	chr14:39735000-39738000	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:39735200-39737200	Active TSS	Fetal Brain Female	brain
25	chr14:39735200-39737200	Active TSS	Fetal Muscle Trunk	muscle
26	chr14:39735200-39737400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:39735200-39737400	Active TSS	Thymus	Thymus
28	chr14:39735200-39737600	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr14:39735200-39737800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr14:39735200-39737800	Active TSS	NHLF	lung
31	chr14:39735200-39738000	Active TSS	H1 Cell Line	embryonic stem cell
32	chr14:39735200-39738000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:39735400-39736600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr14:39735400-39737000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:39735400-39737000	Active TSS	Placenta Amnion	Placenta Amnion
36	chr14:39735400-39737200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr14:39735400-39737200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr14:39735400-39737200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:39735400-39737200	Active TSS	Esophagus	oesophagus
40	chr14:39735400-39737200	Active TSS	Fetal Brain Male	brain
41	chr14:39735400-39737200	Active TSS	Placenta	Placenta
42	chr14:39735400-39737200	Active TSS	Left Ventricle	heart
43	chr14:39735400-39737200	Active TSS	Ovary	ovary
44	chr14:39735400-39737200	Active TSS	Pancreas	Pancrea
45	chr14:39735400-39737800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:39735400-39737800	Active TSS	Gastric	stomach
47	chr14:39735400-39737800	Active TSS	Lung	lung
48	chr14:39735400-39738000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:39735600-39736400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:39735600-39736800	Active TSS	Liver	Liver

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