Variant report

Variant	rs2268976
Chromosome Location	chr14:69419042-69419043
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	TCF12	chr14:69418891-69420191	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr14:69418940-69419090	SK-N-SH_RA	brain:	n/a	n/a
3	MAX	chr14:69417475-69419682	A549	lung:	n/a	n/a
4	TCF12	chr14:69418791-69420417	SK-N-SH	brain:	n/a	n/a
5	FOXA2	chr14:69419029-69419274	HepG2	liver:	n/a	n/a
6	YY1	chr14:69419022-69419517	SK-N-SH_RA	brain:	n/a	n/a
7	MAZ	chr14:69417497-69420407	IMR90	lung:	n/a	chr14:69420282-69420291
8	EP300	chr14:69419003-69420000	SK-N-SH_RA	brain:	n/a	chr14:69419149-69419159
9	POLR2A	chr14:69419042-69419250	A549	lung:	n/a	n/a
10	GATA3	chr14:69419003-69420371	SK-N-SH	brain:	n/a	chr14:69420143-69420150 chr14:69420143-69420150 chr14:69420143-69420152 chr14:69420144-69420161 chr14:69420143-69420150
11	GATA3	chr14:69419039-69420190	SK-N-SH	brain:	n/a	chr14:69420143-69420150 chr14:69420143-69420150 chr14:69420143-69420152 chr14:69420144-69420161 chr14:69420143-69420150
12	POLR2A	chr14:69417476-69420393	U87	brain:	n/a	n/a
13	TCF12	chr14:69417363-69419764	A549	lung:	n/a	chr14:69417789-69417799
14	EP300	chr14:69418976-69420103	SK-N-SH	brain:	n/a	chr14:69420049-69420062 chr14:69419149-69419159
15	EP300	chr14:69418984-69419988	SK-N-SH_RA	brain:	n/a	chr14:69419149-69419159
16	NFIC	chr14:69418955-69420001	SK-N-SH	brain:	n/a	chr14:69419732-69419760
17	POLR2A	chr14:69418806-69420288	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
2	chr14:69417733..69419783-chr14:69424875..69426386,2	MCF-7	breast:
3	chr14:69416728..69419632-chr14:69444085..69445765,2	K562	blood:
4	chr14:69417161..69420849-chr14:69420995..69424800,5	MCF-7	breast:
5	chr14:69416508..69419885-chr14:69443178..69447156,6	MCF-7	breast:
6	chr14:69404437..69408069-chr14:69415844..69420142,4	MCF-7	breast:

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1009145	0.88[CHB][hapmap]
rs10141794	0.88[CHB][hapmap]
rs12588423	0.84[CHB][hapmap]
rs2268975	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2268977	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2268978	0.84[CHB][hapmap]
rs2268980	0.89[CHB][hapmap];0.82[ASN][1000 genomes]
rs2268982	0.88[CHB][hapmap];0.84[AMR][1000 genomes]
rs2268983	0.88[CHB][hapmap]
rs2268985	0.88[CHB][hapmap]
rs2268986	0.83[CHB][hapmap]
rs2300878	0.84[CHB][hapmap]
rs3742897	0.88[CHB][hapmap]
rs3784140	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs4902672	0.88[CHB][hapmap]
rs72733546	0.83[ASN][1000 genomes]
rs8010464	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8010531	0.95[ASN][1000 genomes]
rs8010912	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8011150	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs8011633	0.95[ASN][1000 genomes]
rs8011650	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv564964	chr14:69392264-69423164	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69387400-69420400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr14:69394200-69422200	Weak transcription	Dnd41	blood
3	chr14:69399000-69423200	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr14:69400800-69420400	Enhancers	Fetal Lung	lung
5	chr14:69402000-69426200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr14:69402200-69425200	Enhancers	Right Atrium	heart
7	chr14:69402400-69423600	Enhancers	Fetal Heart	heart
8	chr14:69402400-69427000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:69403600-69420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:69407000-69419600	Weak transcription	Fetal Brain Male	brain
11	chr14:69409800-69434400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr14:69410200-69420200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr14:69411200-69442600	Weak transcription	Fetal Brain Female	brain
14	chr14:69412000-69419200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:69412200-69420400	Enhancers	Placenta	Placenta
16	chr14:69412400-69420400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:69412800-69419400	Weak transcription	Fetal Kidney	kidney
18	chr14:69413000-69419200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr14:69413400-69423800	Enhancers	HUVEC	blood vessel
20	chr14:69413800-69419800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:69414800-69428800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:69415000-69419200	Genic enhancers	Osteobl	bone
23	chr14:69415000-69419400	Genic enhancers	NHEK	skin
24	chr14:69415200-69423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:69416000-69419600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:69416200-69419400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:69416200-69419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:69416200-69419400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr14:69416200-69420000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:69416400-69419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:69416400-69422200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:69416400-69423200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:69416600-69419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:69416600-69419400	Weak transcription	Brain Angular Gyrus	brain
35	chr14:69416600-69419800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:69417400-69419200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:69417400-69420000	Enhancers	Stomach Mucosa	stomach
38	chr14:69417400-69420200	Enhancers	Esophagus	oesophagus
39	chr14:69417400-69420400	Enhancers	Fetal Muscle Trunk	muscle
40	chr14:69417400-69420400	Enhancers	Right Ventricle	heart
41	chr14:69417400-69429200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:69417600-69419200	Enhancers	Spleen	Spleen
43	chr14:69417600-69419600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:69417600-69419600	Genic enhancers	Fetal Intestine Small	intestine
45	chr14:69417600-69419800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69417600-69420200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:69417600-69420200	Enhancers	Fetal Thymus	thymus
48	chr14:69417600-69420200	Enhancers	Psoas Muscle	Psoas
49	chr14:69417600-69420400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:69417600-69420400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast

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