Variant report

Variant	rs74048711
Chromosome Location	chr14:39640586-39640587
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:39638256-39640608	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr14:39640567-39640639	K562	blood:	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	HEY1	chr14:39640003-39640720	HepG2	liver:	n/a	n/a
10	MYC	chr14:39638972-39640711	K562	blood:	n/a	n/a
11	POLR2A	chr14:39638890-39640611	GM19099	blood:	n/a	n/a
12	MYBL2	chr14:39638681-39640614	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:39638293-39640766	PBDE	blood:	n/a	n/a
14	POLR2A	chr14:39640223-39640613	K562	blood:	n/a	n/a
15	HEY1	chr14:39638602-39640656	HepG2	liver:	n/a	n/a
16	MAX	chr14:39640510-39640796	K562	blood:	n/a	n/a
17	GATA1	chr14:39638927-39640605	PBDE	blood:	n/a	chr14:39640131-39640141
18	POLR2A	chr14:39638827-39640615	Raji	blood:	n/a	n/a
19	POLR2A	chr14:39639989-39640785	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:39640224-39640610	HepG2	liver:	n/a	n/a
21	ARID3A	chr14:39639110-39640590	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:39638742-39640620	HepG2	liver:	n/a	n/a
23	MAX	chr14:39640567-39640760	K562	blood:	n/a	n/a
24	POLR2A	chr14:39638725-39640617	GM12878	blood:	n/a	n/a
25	HCFC1	chr14:39638711-39640710	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr14:39638667-39640876	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr14:39639160-39640614	K562	blood:	n/a	n/a
28	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	chr14:39627588..39630003-chr14:39640583..39643561,2	MCF-7	breast:
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
TRAPPC6B	TF binding region
PNN	TF binding region
ENSG00000150527	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000258941	Chromatin interaction
ENSG00000150526	Chromatin interaction
ENSG00000092208	Chromatin interaction
ENSG00000258651	Chromatin interaction
ENSG00000165355	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1002193	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10129762	0.81[ASN][1000 genomes]
rs10131369	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10134166	0.84[ASN][1000 genomes]
rs10135561	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10136637	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10140763	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141924	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10142117	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10142350	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145417	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145476	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146176	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10148712	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1050136	0.99[ASN][1000 genomes]
rs11622731	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11622968	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11624584	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11626002	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628784	0.83[ASN][1000 genomes]
rs11849209	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11850579	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851680	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587208	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13021	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13379129	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17092044	0.83[ASN][1000 genomes]
rs17092050	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108948	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2273592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28437577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28501673	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28583114	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28666016	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28701960	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28821293	0.83[ASN][1000 genomes]
rs45622837	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57326310	0.83[ASN][1000 genomes]
rs57482489	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs57555422	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58601678	0.83[ASN][1000 genomes]
rs59465524	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7155307	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74048710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761805	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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:110 , 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	chr14:39637800-39640600	Active TSS	Brain Anterior Caudate	brain
4	chr14:39638400-39640600	Active TSS	Brain Angular Gyrus	brain
5	chr14:39638600-39640600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr14:39640000-39640600	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr14:39640000-39640600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:39640000-39640600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr14:39640000-39640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:39640000-39640600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39640000-39640600	Enhancers	Small Intestine	intestine
12	chr14:39640000-39643400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:39640000-39643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:39640000-39643400	Weak transcription	Spleen	Spleen
15	chr14:39640000-39643600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:39640000-39643600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:39640000-39643600	Weak transcription	Left Ventricle	heart
18	chr14:39640000-39644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:39640200-39640600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:39640200-39640600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:39640200-39640600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:39640200-39640600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr14:39640200-39640600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:39640200-39640600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:39640200-39640600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr14:39640200-39640600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr14:39640200-39640600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:39640200-39640600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:39640200-39640600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:39640200-39640600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:39640200-39640600	Enhancers	Primary B cells from peripheral blood	blood
32	chr14:39640200-39640600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:39640200-39640600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr14:39640200-39640600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:39640200-39640600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr14:39640200-39640600	Flanking Active TSS	Liver	Liver
37	chr14:39640200-39640600	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr14:39640200-39640600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr14:39640200-39640600	Flanking Active TSS	Colon Smooth Muscle	Colon
40	chr14:39640200-39640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:39640200-39640600	Flanking Active TSS	Fetal Brain Male	brain
42	chr14:39640200-39640600	Flanking Active TSS	Fetal Heart	heart
43	chr14:39640200-39640600	Enhancers	Placenta Amnion	Placenta Amnion
44	chr14:39640200-39640600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr14:39640200-39640600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:39640200-39640600	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr14:39640200-39640600	Flanking Active TSS	A549	lung
48	chr14:39640200-39640600	Flanking Active TSS	Dnd41	blood
49	chr14:39640200-39640600	Flanking Active TSS	GM12878-XiMat	blood
50	chr14:39640200-39640600	Flanking Active TSS	Hela-S3	cervix

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