Variant report

Variant	rs34380272
Chromosome Location	chr14:35521088-35521089
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	NR3C1	chr14:35521027-35521371	A549	lung:	n/a	chr14:35521204-35521230 chr14:35521204-35521230
2	GATA3	chr14:35520821-35521461	MCF-7	breast:	n/a	chr14:35521093-35521109
3	POLR2A	chr14:35520883-35521468	A549	lung:	n/a	n/a
4	ARID3A	chr14:35521017-35521344	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:35520982-35521378	MCF-7	breast:	n/a	chr14:35521070-35521081
6	RCOR1	chr14:35521081-35521290	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:35520889-35521243	MCF-7	breast:	n/a	chr14:35521070-35521081
8	FOXA2	chr14:35520932-35521341	HepG2	liver:	n/a	chr14:35521176-35521188
9	EP300	chr14:35521076-35521211	HepG2	liver:	n/a	chr14:35521179-35521189
10	CEBPB	chr14:35521005-35521215	HepG2	liver:	n/a	chr14:35521070-35521081
11	GATA3	chr14:35520912-35521322	MCF-7	breast:	n/a	chr14:35521093-35521109
12	RFX5	chr14:35521028-35521141	K562	blood:	n/a	n/a
13	JUND	chr14:35521052-35521245	HepG2	liver:	n/a	n/a
14	TEAD4	chr14:35520799-35521445	HepG2	liver:	n/a	n/a
15	TCF7L2	chr14:35520965-35521299	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:35515994..35521853-chr14:35871391..35874738,9	MCF-7	breast:
2	chr14:35520110..35522080-chr14:35529783..35531632,2	MCF-7	breast:
3	chr14:35519987..35522404-chr14:35523498..35526576,3	K562	blood:
4	chr14:35519480..35523190-chr14:35588742..35592990,5	MCF-7	breast:
5	chr14:35515170..35517585-chr14:35518270..35521794,5	K562	blood:
6	chr14:35513511..35517056-chr14:35517636..35522677,6	K562	blood:
7	chr14:35520311..35523520-chr14:35872932..35875311,3	MCF-7	breast:
8	chr14:35519616..35521249-chr14:35528506..35531084,2	MCF-7	breast:

Variant related genes	Relation type
FAM177A1	TF binding region
ENSG00000100906	Chromatin interaction
ENSG00000100890	Chromatin interaction
ENSG00000151327	Chromatin interaction
ENSG00000258790	Chromatin interaction
ENSG00000092020	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10140974	0.86[EUR][1000 genomes]
rs11555795	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12878409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879990	0.86[EUR][1000 genomes]
rs12884879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28498415	0.86[EUR][1000 genomes]
rs2891299	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34345349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34349910	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34482760	0.82[EUR][1000 genomes]
rs35279146	0.95[EUR][1000 genomes]
rs35447952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55775137	1.00[EUR][1000 genomes]
rs55831988	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56228866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71421928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72664833	0.86[EUR][1000 genomes]
rs72680611	0.85[ASN][1000 genomes]
rs72680628	0.89[ASN][1000 genomes]
rs72680630	0.89[ASN][1000 genomes]
rs72680637	0.96[ASN][1000 genomes]
rs72680642	0.96[ASN][1000 genomes]
rs72680647	0.96[ASN][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	chr14:35516400-35522200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:35516400-35527800	Weak transcription	Esophagus	oesophagus
3	chr14:35516400-35531000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:35516400-35531000	Weak transcription	Gastric	stomach
5	chr14:35516400-35537600	Weak transcription	Ovary	ovary
6	chr14:35516400-35552600	Weak transcription	Spleen	Spleen
7	chr14:35516600-35528400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:35516600-35529800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr14:35516600-35530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:35516600-35537400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr14:35516800-35523000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:35516800-35523800	Weak transcription	Thymus	Thymus
13	chr14:35516800-35527000	Weak transcription	Brain Germinal Matrix	brain
14	chr14:35516800-35527800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:35516800-35527800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr14:35516800-35530800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:35516800-35536800	Weak transcription	Fetal Kidney	kidney
18	chr14:35516800-35537200	Weak transcription	Fetal Brain Male	brain
19	chr14:35516800-35537600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:35516800-35551200	Weak transcription	Right Ventricle	heart
21	chr14:35516800-35552200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:35517000-35531000	Weak transcription	Pancreas	Pancrea
23	chr14:35517200-35521200	Weak transcription	Adipose Nuclei	Adipose
24	chr14:35517200-35522000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr14:35517200-35524600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:35517200-35527400	Weak transcription	Colonic Mucosa	Colon
27	chr14:35517200-35527800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:35517200-35547200	Weak transcription	Brain Anterior Caudate	brain
29	chr14:35517400-35522000	Weak transcription	NHEK	skin
30	chr14:35517400-35524600	Weak transcription	Fetal Lung	lung
31	chr14:35517400-35527600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:35517400-35528200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:35517400-35530200	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:35517400-35530200	Weak transcription	HMEC	breast
35	chr14:35517400-35530200	Weak transcription	NH-A	brain
36	chr14:35517400-35537600	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:35517400-35544000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr14:35517400-35578800	Weak transcription	Stomach Mucosa	stomach
39	chr14:35517600-35522600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:35517600-35523000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:35517600-35523000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:35517600-35524600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:35517600-35524600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr14:35517600-35524800	Weak transcription	Brain Substantia Nigra	brain
45	chr14:35517600-35530200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:35517600-35536400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:35517600-35537600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr14:35517600-35537600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:35517600-35545800	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:35517600-35554400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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