Variant report

Variant	rs73258119
Chromosome Location	chr14:31040149-31040150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:31040090-31040327	IMR90	lung:	n/a	n/a
2	STAT3	chr14:31040044-31040221	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr14:31040074-31040263	K562	blood:	n/a	n/a
4	CEBPB	chr14:31040079-31040381	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31039096..31040626-chr14:31092692..31094445,2	MCF-7	breast:
2	chr14:31035744..31040643-chr14:31041645..31045084,5	K562	blood:
3	chr14:31027395..31030392-chr14:31038600..31040381,2	K562	blood:
4	chr14:31027965..31029888-chr14:31039177..31041559,3	MCF-7	breast:
5	chr14:31039211..31041266-chr14:31071590..31074584,2	K562	blood:
6	chr14:31038615..31040307-chr14:31049881..31051586,2	MCF-7	breast:
7	chr14:31035695..31037918-chr14:31039486..31041182,2	K562	blood:

No data

Variant related genes	Relation type
G2E3	TF binding region
ENSG00000257636	Chromatin interaction
ENSG00000092140	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]
rs73264309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264311	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:89 , 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	chr14:31029200-31042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
5	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
7	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:31030400-31041600	Weak transcription	Brain Anterior Caudate	brain
9	chr14:31030400-31042600	Weak transcription	Ovary	ovary
10	chr14:31030400-31042800	Weak transcription	Primary B cells from cord blood	blood
11	chr14:31030400-31044600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr14:31030400-31046600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:31030400-31050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr14:31030400-31050600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:31030600-31042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:31030600-31046600	Weak transcription	NH-A	brain
19	chr14:31030800-31046600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:31031000-31041600	Weak transcription	HUVEC	blood vessel
21	chr14:31031000-31042600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr14:31031000-31052000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:31031200-31042000	Weak transcription	NHEK	skin
24	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:31032200-31042200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:31032200-31046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:31032200-31056400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:31032400-31049400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
30	chr14:31032600-31051600	Weak transcription	Fetal Thymus	thymus
31	chr14:31032600-31051800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:31032800-31051600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:31032800-31053200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:31033600-31046600	Weak transcription	Thymus	Thymus
35	chr14:31033800-31046600	Weak transcription	Fetal Intestine Small	intestine
36	chr14:31033800-31070000	Weak transcription	Lung	lung
37	chr14:31034000-31040800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:31034000-31040800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:31034000-31043600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr14:31034000-31059200	Weak transcription	Fetal Lung	lung
41	chr14:31034200-31042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:31034400-31051800	Weak transcription	HSMM	muscle
43	chr14:31035200-31042600	Weak transcription	Psoas Muscle	Psoas
44	chr14:31035200-31045400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr14:31035600-31054400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:31038000-31040600	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:31038000-31044000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:31038200-31041600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:31038200-31041800	Enhancers	HepG2	liver
50	chr14:31038400-31041000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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