Variant report

Variant	rs2162548
Chromosome Location	chr14:81407456-81407457
allele	C/T
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	ELF1	chr14:81407455-81408515	MCF-7	breast:	n/a	chr14:81408115-81408124
2	SIN3AK20	chr14:81407357-81408773	MCF-7	breast:	n/a	n/a
3	MXI1	chr14:81407248-81408597	IMR90	lung:	n/a	chr14:81408060-81408075
4	ZNF263	chr14:81407411-81408581	HEK293-T-REx	kidney:	n/a	n/a
5	SIN3A	chr14:81407430-81408659	H1-hESC	embryonic stem cell:	n/a	chr14:81407702-81407715
6	E2F4	chr14:81407138-81409104	MCF10A-Er-Src	breast:	n/a	chr14:81408116-81408126
7	ELK1	chr14:81407443-81407642	GM12878	blood:	n/a	n/a
8	MXI1	chr14:81407122-81408718	SK-N-SH	brain:	n/a	chr14:81408060-81408075
9	HDAC2	chr14:81407443-81408396	MCF-7	breast:	n/a	chr14:81408293-81408307
10	HCFC1	chr14:81407354-81409090	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr14:81407400-81407550	A549	lung:	n/a	n/a
12	SIN3AK20	chr14:81407455-81408213	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81406001..81408090-chr14:81684696..81687286,2	MCF-7	breast:
2	chr14:81405070..81407655-chr14:81893214..81894963,2	K562	blood:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000165417	Chromatin interaction
ENSG00000140022	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10136404	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1016507	0.81[EUR][1000 genomes]
rs1016699	0.84[AFR][1000 genomes]
rs1025253	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11623416	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11627019	0.90[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11627929	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12050416	0.84[AFR][1000 genomes]
rs12432357	0.80[EUR][1000 genomes]
rs12433134	0.80[AFR][1000 genomes]
rs12434564	0.81[EUR][1000 genomes]
rs12888082	0.81[EUR][1000 genomes]
rs12892825	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895801	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1458993	0.81[EUR][1000 genomes]
rs17111270	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs172920	0.83[EUR][1000 genomes]
rs17542615	0.81[EUR][1000 genomes]
rs1797670	0.81[EUR][1000 genomes]
rs2044737	0.85[EUR][1000 genomes]
rs2044738	0.80[EUR][1000 genomes]
rs2114703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2217174	0.83[EUR][1000 genomes]
rs2217176	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs228110	0.81[EUR][1000 genomes]
rs228111	0.82[EUR][1000 genomes]
rs228118	0.83[EUR][1000 genomes]
rs228120	0.83[EUR][1000 genomes]
rs228121	0.83[EUR][1000 genomes]
rs228125	0.83[EUR][1000 genomes]
rs2371457	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2371462	0.83[EUR][1000 genomes]
rs2556601	0.83[EUR][1000 genomes]
rs2556605	0.82[EUR][1000 genomes]
rs2888046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35540104	0.81[EUR][1000 genomes]
rs3742721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742722	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899781	0.82[AFR][1000 genomes]
rs4899782	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4899783	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4903948	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4903954	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574611	0.81[AFR][1000 genomes]
rs6574613	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67065081	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7143407	0.81[EUR][1000 genomes]
rs7143744	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148368	0.80[EUR][1000 genomes]
rs7148618	0.80[EUR][1000 genomes]
rs7153979	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7154132	0.85[EUR][1000 genomes]
rs7154373	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7157845	0.82[AFR][1000 genomes]
rs722906	0.82[AFR][1000 genomes]
rs728444	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs759916	0.83[EUR][1000 genomes]
rs759917	0.82[EUR][1000 genomes]
rs8003784	0.81[EUR][1000 genomes]
rs8005883	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8006507	0.81[EUR][1000 genomes]
rs8009120	0.83[EUR][1000 genomes]
rs8009260	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016507	0.85[AFR][1000 genomes]
rs8021137	0.82[EUR][1000 genomes]
rs8022411	0.87[EUR][1000 genomes];0.82[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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81375400-81407600	Weak transcription	Gastric	stomach
2	chr14:81393000-81407600	Weak transcription	Lung	lung
3	chr14:81396400-81407600	Weak transcription	Aorta	Aorta
4	chr14:81405600-81407600	Weak transcription	Spleen	Spleen
5	chr14:81406200-81407600	Flanking Active TSS	Dnd41	blood
6	chr14:81406400-81408400	Active TSS	GM12878-XiMat	blood
7	chr14:81406600-81407600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:81406600-81408400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr14:81406600-81408400	Active TSS	Hela-S3	cervix
10	chr14:81406600-81408800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr14:81406600-81408800	Active TSS	NHLF	lung
12	chr14:81406800-81407600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:81406800-81407800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:81406800-81408400	Active TSS	A549	lung
15	chr14:81406800-81408400	Active TSS	HMEC	breast
16	chr14:81406800-81409000	Active TSS	K562	blood
17	chr14:81407000-81408400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:81407000-81408400	Active TSS	NHEK	skin
19	chr14:81407000-81408800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:81407000-81408800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:81407000-81408800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:81407200-81407600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:81407200-81407600	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81407200-81407600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:81407200-81407600	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:81407200-81407600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr14:81407200-81407600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr14:81407200-81407600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr14:81407200-81407600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:81407200-81407600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr14:81407200-81407600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr14:81407200-81407600	Flanking Active TSS	Fetal Brain Female	brain
33	chr14:81407200-81407600	Flanking Active TSS	Fetal Heart	heart
34	chr14:81407200-81407600	Flanking Active TSS	HSMM	muscle
35	chr14:81407200-81407600	Flanking Active TSS	NH-A	brain
36	chr14:81407200-81407800	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr14:81407200-81407800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr14:81407200-81407800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:81407200-81407800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:81407200-81407800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr14:81407200-81407800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr14:81407200-81407800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr14:81407200-81407800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr14:81407200-81407800	Flanking Active TSS	Fetal Stomach	stomach
45	chr14:81407200-81407800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr14:81407200-81407800	Flanking Active TSS	HUVEC	blood vessel
47	chr14:81407200-81407800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr14:81407200-81407800	Flanking Active TSS	Osteobl	bone
49	chr14:81407200-81408200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:81407200-81408400	Active TSS	HUES48 Cell Line	embryonic stem cell

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