Variant report

Variant	rs10146567
Chromosome Location	chr14:31890604-31890605
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	HCFC1	chr14:31888131-31890973	Hela-S3	cervix:	n/a	n/a
2	EP300	chr14:31890537-31891338	HepG2	liver:	n/a	n/a
3	POLR2A	chr14:31890564-31890738	Hela-S3	cervix:	n/a	n/a
4	FOXA2	chr14:31890097-31891374	HepG2	liver:	n/a	n/a
5	HEY1	chr14:31888878-31890863	HepG2	liver:	n/a	chr14:31889322-31889337 chr14:31889202-31889217 chr14:31889200-31889215
6	MAFK	chr14:31889601-31890614	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:31888350-31890652	MCF10A-Er-Src	breast:	n/a	n/a
8	RCOR1	chr14:31889154-31890620	K562	blood:	n/a	n/a
9	FOXA1	chr14:31888897-31890930	HepG2	liver:	n/a	chr14:31888939-31888951
10	HEY1	chr14:31890443-31890911	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:31888936-31891254	HepG2	liver:	n/a	n/a
12	MBD4	chr14:31888678-31891351	HepG2	liver:	n/a	n/a
13	ARID3A	chr14:31888898-31891391	HepG2	liver:	n/a	n/a
14	POLR2A	chr14:31889163-31890672	HepG2	liver:	n/a	n/a
15	ESRRA	chr14:31888472-31890907	GM12878	blood:	n/a	chr14:31888843-31888853 chr14:31888842-31888855 chr14:31888839-31888855 chr14:31888843-31888853
16	MXI1	chr14:31888839-31890930	IMR90	lung:	n/a	n/a
17	POLR2A	chr14:31888943-31890851	HepG2	liver:	n/a	n/a
18	POLR2A	chr14:31890599-31890647	K562	blood:	n/a	n/a
19	TBP	chr14:31888678-31890696	Hela-S3	cervix:	n/a	n/a
20	FOXA1	chr14:31889501-31891364	HepG2	liver:	n/a	n/a
21	TEAD4	chr14:31888847-31891431	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:31889512-31890751	K562	blood:	n/a	n/a
23	MBD4	chr14:31888665-31890782	HepG2	liver:	n/a	n/a
24	FOXA2	chr14:31890375-31890905	HepG2	liver:	n/a	n/a
25	MYBL2	chr14:31888863-31891481	HepG2	liver:	n/a	n/a
26	BHLHE40	chr14:31889153-31890737	HepG2	liver:	n/a	n/a
27	ZEB1	chr14:31888807-31891503	HepG2	liver:	n/a	n/a
28	FOXA1	chr14:31888930-31890889	HepG2	liver:	n/a	chr14:31888939-31888951
29	POLR2A	chr14:31889215-31890627	Raji	blood:	n/a	n/a
30	MYBL2	chr14:31888358-31891645	HepG2	liver:	n/a	n/a
31	NFIC	chr14:31888604-31891360	HepG2	liver:	n/a	n/a
32	TBP	chr14:31888936-31890743	HepG2	liver:	n/a	n/a
33	NFIC	chr14:31888803-31891339	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31887818..31891601-chr14:31923594..31927929,15	K562	blood:
2	chr14:31890242..31892614-chr14:31901862..31904809,2	MCF-7	breast:
3	chr14:31887046..31892106-chr14:31923824..31928892,9	K562	blood:
4	chr14:31676274..31678860-chr14:31889133..31891124,4	MCF-7	breast:

Variant related genes	Relation type
HEATR5A	TF binding region
ENSG00000129480	Chromatin interaction
ENSG00000092148	Chromatin interaction
ENSG00000203546	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10129177	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130006	0.94[AFR][1000 genomes]
rs10130507	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135068	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10136175	0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10140697	0.86[LWK][hapmap];1.00[AMR][1000 genomes]
rs10150602	0.94[AFR][1000 genomes]
rs10151215	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151624	0.85[AFR][1000 genomes]
rs1111724	1.00[AMR][1000 genomes]
rs11844137	1.00[AMR][1000 genomes]
rs1952105	1.00[AMR][1000 genomes]
rs28548120	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28623024	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28637251	0.94[AFR][1000 genomes]
rs28729913	0.81[AFR][1000 genomes]
rs4981094	1.00[AMR][1000 genomes]
rs58291808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58631398	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61414525	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359020	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8005617	0.81[LWK][hapmap]
rs8010938	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1050597	chr14:31711248-31904761	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901589	chr14:31768231-31944723	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1042776	chr14:31844026-32003929	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542019	chr14:31844026-32003929	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	32 gene(s)	inside rSNPs	diseases
6	nsv931935	chr14:31871658-32117666	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1050774	chr14:31879687-32102906	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv934110	chr14:31887749-32109529	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv934206	chr14:31887749-32257097	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31890000-31890800	Flanking Active TSS	GM12878-XiMat	blood
2	chr14:31890000-31890800	Flanking Active TSS	Hela-S3	cervix
3	chr14:31890200-31890800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:31890200-31891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:31890200-31895000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:31890200-31896000	Weak transcription	Lung	lung
7	chr14:31890200-31902200	Weak transcription	Aorta	Aorta
8	chr14:31890200-31904200	Weak transcription	Right Atrium	heart
9	chr14:31890400-31890800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr14:31890400-31890800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr14:31890400-31890800	Enhancers	HSMM	muscle
12	chr14:31890400-31890800	Flanking Active TSS	K562	blood
13	chr14:31890400-31891000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:31890400-31891200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:31890400-31891200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:31890400-31891400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:31890400-31891400	Flanking Active TSS	HepG2	liver
18	chr14:31890400-31893000	Weak transcription	NH-A	brain
19	chr14:31890400-31895200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr14:31890400-31895600	Weak transcription	Adipose Nuclei	Adipose
21	chr14:31890400-31897600	Weak transcription	Fetal Intestine Small	intestine
22	chr14:31890400-31898200	Weak transcription	Brain Germinal Matrix	brain
23	chr14:31890400-31899600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr14:31890400-31899800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:31890400-31900800	Weak transcription	Primary B cells from cord blood	blood
26	chr14:31890400-31900800	Weak transcription	Fetal Brain Female	brain
27	chr14:31890400-31900800	Weak transcription	Fetal Lung	lung
28	chr14:31890400-31900800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:31890400-31901000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:31890400-31901000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr14:31890400-31907400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:31890400-31910400	Weak transcription	Placenta	Placenta
33	chr14:31890400-31910400	Weak transcription	Ovary	ovary
34	chr14:31890400-31917400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr14:31890400-31921200	Weak transcription	Psoas Muscle	Psoas
36	chr14:31890400-31925800	Weak transcription	Right Ventricle	heart
37	chr14:31890600-31890800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:31890600-31890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:31890600-31890800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr14:31890600-31890800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr14:31890600-31890800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:31890600-31890800	Enhancers	A549	lung
43	chr14:31890600-31890800	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr14:31890600-31891000	Weak transcription	Brain Hippocampus Middle	brain
45	chr14:31890600-31892200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr14:31890600-31894800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:31890600-31900800	Weak transcription	Primary T cells from cord blood	blood
48	chr14:31890600-31900800	Weak transcription	Brain Substantia Nigra	brain
49	chr14:31890600-31901000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:31890600-31904400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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