Variant report

Variant	rs8015972
Chromosome Location	chr14:81976465-81976466
allele	C/T
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	GATA3	chr14:81975872-81976609	MCF-7	breast:	n/a	n/a
2	GATA3	chr14:81975952-81976556	T-47D	breast:	n/a	n/a
3	CTCF	chr14:81976360-81976510	HCFaa	heart:	n/a	n/a
4	NR2F2	chr14:81976014-81976601	MCF-7	breast:	n/a	n/a
5	JUND	chr14:81975958-81976577	T-47D	breast:	n/a	n/a
6	TCF7L2	chr14:81976195-81976590	MCF-7	breast:	n/a	chr14:81976381-81976395
7	FOXP2	chr14:81976258-81976519	SK-N-MC	brain:	n/a	n/a
8	FOXA1	chr14:81975941-81976470	T-47D	breast:	n/a	chr14:81976157-81976172
9	FOXA1	chr14:81975951-81976521	T-47D	breast:	n/a	chr14:81976157-81976172
10	GATA3	chr14:81975789-81976687	MCF-7	breast:	n/a	n/a
11	GATA3	chr14:81975973-81976588	T-47D	breast:	n/a	n/a
12	TCF7L2	chr14:81976093-81976847	HEK293	kidney:	n/a	chr14:81976381-81976395

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81970719..81974243-chr14:81975754..81978967,3	K562	blood:
2	chr14:81931312..81933457-chr14:81974690..81977419,2	K562	blood:

Variant related genes	Relation type
SEL1L	TF binding region
ENSG00000071537	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11844307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11846697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7147799	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010569	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	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81938400-81977000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr14:81938800-81977600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:81941800-81985600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:81942000-81976600	Strong transcription	Primary T helper cells PMA-I stimulated	--
5	chr14:81943600-81977000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:81948800-81977800	Strong transcription	Primary B cells from cord blood	blood
7	chr14:81960200-81983600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:81960400-81985800	Weak transcription	Stomach Mucosa	stomach
9	chr14:81962600-81977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr14:81964000-81980000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:81964200-81985200	Weak transcription	K562	blood
12	chr14:81964400-81983000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:81970400-81983200	Weak transcription	Hela-S3	cervix
15	chr14:81970800-81983200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:81971200-81983600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:81971400-81977200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:81971400-81978600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:81971400-81978800	Weak transcription	Fetal Stomach	stomach
20	chr14:81972400-81977600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr14:81972600-81978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:81972600-81979600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:81972600-81979800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:81972600-81980200	Weak transcription	Colonic Mucosa	Colon
25	chr14:81972600-81983600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:81972600-81987000	Weak transcription	NH-A	brain
27	chr14:81972600-81989800	Weak transcription	HMEC	breast
28	chr14:81972800-81977600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:81972800-81982600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:81972800-81983200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr14:81973000-81979400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:81973200-81977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:81973200-81983000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:81973400-81977400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr14:81973400-81980000	Weak transcription	Right Ventricle	heart
36	chr14:81973400-81980800	Weak transcription	Pancreas	Pancrea
37	chr14:81973400-81982400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:81973600-81979600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:81973800-81977200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr14:81973800-81977600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr14:81973800-81977600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr14:81973800-81977800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr14:81973800-81977800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr14:81973800-81978600	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:81973800-81978600	Weak transcription	Thymus	Thymus
46	chr14:81973800-81979800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr14:81973800-81982400	Weak transcription	Fetal Thymus	thymus
48	chr14:81973800-81983200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:81973800-81988800	Weak transcription	Spleen	Spleen
50	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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