Variant report

Variant	rs73291573
Chromosome Location	chr14:39640388-39640389
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr14:39639398-39640412	GM12878	blood:	n/a	n/a
2	POLR2A	chr14:39638256-39640608	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:39638939-39640740	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr14:39638749-39640613	GM12891	blood:	n/a	n/a
5	MBD4	chr14:39638508-39640680	HepG2	liver:	n/a	n/a
6	MYBL2	chr14:39638549-39640673	HepG2	liver:	n/a	n/a
7	NFIC	chr14:39639967-39640730	HepG2	liver:	n/a	n/a
8	TEAD4	chr14:39638610-39640639	HepG2	liver:	n/a	n/a
9	MXI1	chr14:39639167-39640568	GM12878	blood:	n/a	n/a
10	HEY1	chr14:39640003-39640720	HepG2	liver:	n/a	n/a
11	MYC	chr14:39638972-39640711	K562	blood:	n/a	n/a
12	POLR2A	chr14:39638890-39640611	GM19099	blood:	n/a	n/a
13	MYBL2	chr14:39638681-39640614	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:39638293-39640766	PBDE	blood:	n/a	n/a
15	CHD1	chr14:39638973-39640449	H1-hESC	embryonic stem cell:	n/a	n/a
16	NFIC	chr14:39638696-39640471	HepG2	liver:	n/a	n/a
17	POLR2A	chr14:39640386-39640434	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:39640223-39640613	K562	blood:	n/a	n/a
19	HEY1	chr14:39638602-39640656	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:39638777-39640582	Hela-S3	cervix:	n/a	n/a
21	GATA1	chr14:39638927-39640605	PBDE	blood:	n/a	chr14:39640131-39640141
22	POLR2A	chr14:39638827-39640615	Raji	blood:	n/a	n/a
23	POLR2A	chr14:39639989-39640785	HepG2	liver:	n/a	n/a
24	RFX5	chr14:39640302-39640468	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:39640224-39640610	HepG2	liver:	n/a	n/a
26	ARID3A	chr14:39639110-39640590	HepG2	liver:	n/a	n/a
27	MXI1	chr14:39638695-39640520	SK-N-SH	brain:	n/a	n/a
28	MYC	chr14:39639280-39640580	A549	lung:	n/a	n/a
29	POLR2A	chr14:39638742-39640620	HepG2	liver:	n/a	n/a
30	POLR2A	chr14:39638725-39640617	GM12878	blood:	n/a	n/a
31	POLR2A	chr14:39639063-39640413	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr14:39639974-39640576	GM12878	blood:	n/a	n/a
33	HCFC1	chr14:39638711-39640710	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr14:39638763-39640405	IMR90	lung:	n/a	n/a
35	ZNF384	chr14:39639210-39640389	K562	blood:	n/a	n/a
36	POLR2A	chr14:39638835-39640571	GM18505	blood:	n/a	n/a
37	POLR2A	chr14:39638667-39640876	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr14:39639160-39640614	K562	blood:	n/a	n/a
39	POLR2A	chr14:39640191-39640658	GM12892	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:39639664..39640469-chr7:12250678..12251257,2	Hela-S3	cervix:
2	chr14:39576976..39580513-chr14:39638047..39641153,4	K562	blood:
3	chr14:39638891..39641141-chr14:39697742..39700523,2	MCF-7	breast:
4	chr14:39583285..39585580-chr14:39639274..39641168,2	K562	blood:
5	chr14:39639912..39642266-chr14:39694401..39697374,2	K562	blood:
6	chr14:39582622..39586619-chr14:39638047..39642701,6	MCF-7	breast:
7	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
8	chr14:39639668..39641561-chr14:39735977..39737875,2	K562	blood:
9	chr14:39572251..39574864-chr14:39637876..39641106,3	MCF-7	breast:
10	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
11	chr14:39570348..39574070-chr14:39637691..39640941,4	MCF-7	breast:

No data

Variant related genes	Relation type
PNN	TF binding region
TRAPPC6B	TF binding region
ENSG00000165355	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000106460	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000258591	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10133797	0.84[AFR][1000 genomes]
rs4143954	0.84[AFR][1000 genomes]
rs4902448	0.84[AFR][1000 genomes]
rs57653321	0.95[AFR][1000 genomes]
rs58851254	0.84[AFR][1000 genomes]
rs62640373	1.00[AFR][1000 genomes]
rs72673356	0.95[AFR][1000 genomes]
rs73289780	0.91[AFR][1000 genomes]
rs73289792	0.91[AFR][1000 genomes]
rs73289793	0.91[AFR][1000 genomes]
rs73291544	0.95[AFR][1000 genomes]
rs73291567	1.00[AFR][1000 genomes]
rs73291583	1.00[AFR][1000 genomes]
rs73291585	1.00[AFR][1000 genomes]
rs73291588	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1813567	chr14:39632114-39642840	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39636800-39640600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:39637400-39640600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:39637600-39640400	Active TSS	Aorta	Aorta
4	chr14:39637600-39640400	Active TSS	NHDF-Ad	bronchial
5	chr14:39637600-39640400	Active TSS	NHLF	lung
6	chr14:39637800-39640400	Active TSS	Psoas Muscle	Psoas
7	chr14:39637800-39640400	Active TSS	Right Atrium	heart
8	chr14:39637800-39640600	Active TSS	Brain Anterior Caudate	brain
9	chr14:39638000-39640400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:39638200-39640400	Active TSS	Fetal Stomach	stomach
11	chr14:39638200-39640400	Active TSS	HSMM	muscle
12	chr14:39638400-39640400	Active TSS	Brain Substantia Nigra	brain
13	chr14:39638400-39640400	Active TSS	Fetal Muscle Trunk	muscle
14	chr14:39638400-39640600	Active TSS	Brain Angular Gyrus	brain
15	chr14:39638600-39640400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr14:39638600-39640400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:39638600-39640400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:39638600-39640400	Active TSS	Brain Cingulate Gyrus	brain
19	chr14:39638600-39640400	Active TSS	Fetal Lung	lung
20	chr14:39638600-39640400	Active TSS	Rectal Smooth Muscle	rectum
21	chr14:39638600-39640600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:39638800-39640400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:39638800-39640400	Active TSS	Thymus	Thymus
24	chr14:39639200-39640400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:39639200-39640400	Active TSS	Duodenum Mucosa	Duodenum
26	chr14:39639400-39640400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:39639400-39640400	Active TSS	Brain Germinal Matrix	brain
28	chr14:39639400-39640400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:39639800-39640400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr14:39639800-39640400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr14:39640000-39640400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr14:39640000-39640400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr14:39640000-39640400	Enhancers	Colonic Mucosa	Colon
34	chr14:39640000-39640400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr14:39640000-39640600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr14:39640000-39640600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr14:39640000-39640600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr14:39640000-39640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:39640000-39640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:39640000-39640600	Enhancers	Small Intestine	intestine
41	chr14:39640000-39643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:39640000-39643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:39640000-39643400	Weak transcription	Spleen	Spleen
44	chr14:39640000-39643600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr14:39640000-39643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:39640000-39643600	Weak transcription	Left Ventricle	heart
47	chr14:39640000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:39640200-39640400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr14:39640200-39640400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:39640200-39640400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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