Variant report

Variant	rs12323860
Chromosome Location	chr14:35517614-35517615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:35517005-35518099	IMR90	lung:	n/a	n/a
2	STAT3	chr14:35517434-35517634	MCF10A-Er-Src	breast:	n/a	n/a
3	FOXA1	chr14:35517237-35517728	HepG2	liver:	n/a	chr14:35517499-35517511
4	FOXA2	chr14:35517222-35517684	HepG2	liver:	n/a	chr14:35517499-35517511
5	POLR2A	chr14:35517020-35518098	A549	lung:	n/a	n/a
6	FOXA1	chr14:35517177-35517708	HepG2	liver:	n/a	chr14:35517499-35517511

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:35515994..35521853-chr14:35871391..35874738,9	MCF-7	breast:
2	chr14:35517575..35519344-chr14:35683138..35684908,2	MCF-7	breast:
3	chr14:35516667..35519479-chr14:35589018..35592188,3	K562	blood:
4	chr14:35516520..35518836-chr14:35536161..35537991,2	K562	blood:
5	chr14:35450596..35455465-chr14:35514082..35520003,7	MCF-7	breast:
6	chr14:35512802..35518057-chr14:35589980..35593805,9	MCF-7	breast:
7	chr14:35514347..35518167-chr14:35589018..35591815,3	K562	blood:
8	chr14:35008230..35010895-chr14:35516677..35519155,2	K562	blood:
9	chr14:35514169..35519549-chr14:35872431..35877872,11	MCF-7	breast:

No data

Variant related genes	Relation type
FAM177A1	TF binding region
ENSG00000129518	Chromatin interaction
ENSG00000100906	Chromatin interaction
ENSG00000258704	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000100883	Chromatin interaction
ENSG00000092020	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10146343	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147528	1.00[AMR][1000 genomes]
rs12323698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28492385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28884824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901602	chr14:35367889-35571651	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1043470	chr14:35398522-35754029	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv542031	chr14:35398522-35754029	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	65 gene(s)	inside rSNPs	diseases
5	nsv901607	chr14:35449467-35540764	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv901608	chr14:35449467-35571651	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	49 gene(s)	inside rSNPs	diseases
7	nsv901609	chr14:35449467-35587767	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv456204	chr14:35466584-35556498	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
9	nsv564263	chr14:35466584-35556498	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
10	nsv901611	chr14:35470049-35540764	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv901612	chr14:35470049-35571651	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv901613	chr14:35470049-35587767	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Flanking Active TSS 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	30 gene(s)	inside rSNPs	diseases
13	nsv1239	chr14:35477657-35522987	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv564264	chr14:35482797-35732369	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
15	nsv901614	chr14:35485748-35571651	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv901615	chr14:35485748-35630175	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
17	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv1043801	chr14:35493065-35539399	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
19	nsv1052800	chr14:35509858-35607117	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
20	nsv1044515	chr14:35510785-35756317	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
21	nsv564265	chr14:35512335-35624831	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats 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	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35514600-35518000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:35515000-35518000	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr14:35516400-35519600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:35516400-35521000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr14:35516400-35522200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:35516400-35527800	Weak transcription	Esophagus	oesophagus
7	chr14:35516400-35531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:35516400-35531000	Weak transcription	Gastric	stomach
9	chr14:35516400-35537600	Weak transcription	Ovary	ovary
10	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
11	chr14:35516600-35517800	Enhancers	Primary B cells from cord blood	blood
12	chr14:35516600-35518000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr14:35516600-35519400	Weak transcription	Placenta	Placenta
14	chr14:35516600-35519800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:35516600-35519800	Weak transcription	Fetal Brain Female	brain
16	chr14:35516600-35528400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:35516600-35529800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:35516600-35530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:35516600-35537400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:35516800-35517800	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:35516800-35517800	Weak transcription	Fetal Stomach	stomach
22	chr14:35516800-35518000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:35516800-35518200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:35516800-35518400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:35516800-35518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:35516800-35518600	Weak transcription	Fetal Thymus	thymus
27	chr14:35516800-35518800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:35516800-35519200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:35516800-35519200	Weak transcription	Left Ventricle	heart
30	chr14:35516800-35519200	Weak transcription	Lung	lung
31	chr14:35516800-35519200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr14:35516800-35519600	Weak transcription	HSMM	muscle
33	chr14:35516800-35519600	Weak transcription	HSMMtube	muscle
34	chr14:35516800-35520000	Weak transcription	Psoas Muscle	Psoas
35	chr14:35516800-35520000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr14:35516800-35520600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:35516800-35523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr14:35516800-35523800	Weak transcription	Thymus	Thymus
39	chr14:35516800-35527000	Weak transcription	Brain Germinal Matrix	brain
40	chr14:35516800-35527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:35516800-35527800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr14:35516800-35530800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr14:35516800-35536800	Weak transcription	Fetal Kidney	kidney
44	chr14:35516800-35537200	Weak transcription	Fetal Brain Male	brain
45	chr14:35516800-35537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
47	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr14:35517000-35518000	Active TSS	Duodenum Mucosa	Duodenum
49	chr14:35517000-35519200	Weak transcription	Fetal Muscle Trunk	muscle
50	chr14:35517000-35519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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