Variant report

Variant	rs73264311
Chromosome Location	chr14:31042444-31042445
allele	A/C
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	FOS	chr14:31042328-31042716	HUVEC	blood vessel:	n/a	n/a
2	E2F4	chr14:31042416-31042662	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr14:31042414-31042768	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr14:31042426-31042751	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31041212..31042794-chr14:31090194..31092998,2	MCF-7	breast:

Variant related genes	Relation type
G2E3	TF binding region
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12100621	1.00[AMR][1000 genomes]
rs57216699	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57549139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57618174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57677010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58653311	0.83[AFR][1000 genomes]
rs60350877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60362029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60727186	0.83[AFR][1000 genomes]
rs73251132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251151	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251156	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251167	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251168	1.00[AMR][1000 genomes]
rs73251169	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251177	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251179	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251181	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251184	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251188	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251199	0.83[AFR][1000 genomes]
rs73253017	0.83[AFR][1000 genomes]
rs73254546	0.83[AFR][1000 genomes]
rs73254548	0.83[AFR][1000 genomes]
rs73254552	0.83[AFR][1000 genomes]
rs73254553	0.83[AFR][1000 genomes]
rs73254554	0.83[AFR][1000 genomes]
rs73254555	0.83[AFR][1000 genomes]
rs73254556	0.83[AFR][1000 genomes]
rs73254560	0.83[AFR][1000 genomes]
rs73254565	0.83[AFR][1000 genomes]
rs73254568	0.83[AFR][1000 genomes]
rs73254580	0.83[AFR][1000 genomes]
rs73254583	0.83[AFR][1000 genomes]
rs73254586	0.83[AFR][1000 genomes]
rs73254588	0.83[AFR][1000 genomes]
rs73254589	0.83[AFR][1000 genomes]
rs73255979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73258119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264358	1.00[AMR][1000 genomes]
rs73264362	1.00[AFR][1000 genomes];1.00[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
4	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
6	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
7	chr14:31030400-31042600	Weak transcription	Ovary	ovary
8	chr14:31030400-31042800	Weak transcription	Primary B cells from cord blood	blood
9	chr14:31030400-31044600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr14:31030400-31046600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:31030400-31050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:31030400-31050600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:31030600-31046600	Weak transcription	NH-A	brain
16	chr14:31030800-31046600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr14:31031000-31042600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:31031000-31052000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:31032200-31046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:31032200-31056400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:31032400-31049400	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
24	chr14:31032600-31051600	Weak transcription	Fetal Thymus	thymus
25	chr14:31032600-31051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:31032800-31051600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:31032800-31053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:31033600-31046600	Weak transcription	Thymus	Thymus
29	chr14:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
30	chr14:31033800-31070000	Weak transcription	Lung	lung
31	chr14:31034000-31043600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
33	chr14:31034400-31051800	Weak transcription	HSMM	muscle
34	chr14:31035200-31042600	Weak transcription	Psoas Muscle	Psoas
35	chr14:31035200-31045400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:31035600-31054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:31038000-31044000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr14:31038600-31042600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:31038600-31042800	Enhancers	A549	lung
40	chr14:31039200-31044600	Weak transcription	Aorta	Aorta
41	chr14:31039400-31042600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr14:31039400-31042600	Weak transcription	NHLF	lung
43	chr14:31039400-31043400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr14:31039400-31043800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:31039400-31043800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:31039400-31053200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr14:31039600-31043800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr14:31039800-31050600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:31040000-31051600	Weak transcription	Dnd41	blood
50	chr14:31040200-31046600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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