Variant report

Variant	rs17097669
Chromosome Location	chr14:31497243-31497244
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	GATA3	chr14:31496898-31497534	SK-N-SH	brain:	n/a	n/a
2	EP300	chr14:31497108-31497324	SK-N-SH_RA	brain:	n/a	chr14:31497239-31497253
3	YY1	chr14:31497158-31497417	SK-N-SH_RA	brain:	n/a	chr14:31497302-31497311 chr14:31497300-31497310
4	POLR2A	chr14:31497087-31497356	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr14:31497159-31497365	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr14:31496978-31497373	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF12	chr14:31497015-31497396	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr14:31496964-31497515	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:31480033..31485916-chr14:31491801..31497532,12	MCF-7	breast:
2	chr14:31482144..31489136-chr14:31492335..31498565,14	MCF-7	breast:
3	chr14:31495964..31498060-chr14:31518106..31520616,2	MCF-7	breast:
4	chr14:31495841..31497461-chr21:46493757..46496010,2	K562	blood:
5	chr14:31495967..31497568-chr14:31552055..31553964,2	K562	blood:
6	chr14:31495967..31497568-chr14:31552055..31553964,3	K562	blood:

Variant related genes	Relation type
STRN3	TF binding region
ENSG00000235374	Chromatin interaction
ENSG00000258968	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000207952	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11622687	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17097675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179724	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179727	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58011377	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17097669	ENSG00000196792	cis	multi-tissue	Pritchard

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31492400-31497400	Active TSS	K562	blood
2	chr14:31493400-31497400	Active TSS	NHDF-Ad	bronchial
3	chr14:31494200-31497600	Active TSS	Duodenum Mucosa	Duodenum
4	chr14:31494400-31497400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr14:31495400-31497400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:31495600-31497600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:31496200-31500800	Weak transcription	Small Intestine	intestine
8	chr14:31496600-31497400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:31496600-31500800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:31496600-31500800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:31496600-31500800	Weak transcription	Stomach Mucosa	stomach
12	chr14:31496600-31505800	Weak transcription	Primary T cells from cord blood	blood
13	chr14:31496600-31507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:31496600-31509800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
16	chr14:31496800-31497400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:31496800-31497600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:31496800-31498800	Enhancers	GM12878-XiMat	blood
19	chr14:31496800-31499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr14:31496800-31500800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr14:31496800-31500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:31496800-31500800	Weak transcription	Gastric	stomach
23	chr14:31496800-31500800	Weak transcription	NH-A	brain
24	chr14:31496800-31501800	Weak transcription	Pancreas	Pancrea
25	chr14:31496800-31502400	Weak transcription	Ovary	ovary
26	chr14:31496800-31505800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr14:31496800-31507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:31496800-31507600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:31496800-31508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:31496800-31508600	Weak transcription	Lung	lung
31	chr14:31496800-31511200	Weak transcription	Brain Anterior Caudate	brain
32	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
33	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
34	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
36	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr14:31497000-31497600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:31497000-31497600	Enhancers	Fetal Intestine Large	intestine
39	chr14:31497000-31497600	Enhancers	Fetal Intestine Small	intestine
40	chr14:31497000-31497600	Enhancers	Fetal Muscle Trunk	muscle
41	chr14:31497000-31497600	Enhancers	Hela-S3	cervix
42	chr14:31497000-31497600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr14:31497000-31497800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr14:31497000-31499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr14:31497000-31499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:31497000-31499600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:31497000-31499600	Weak transcription	Fetal Lung	lung
48	chr14:31497000-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr14:31497000-31500800	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:31497000-31500800	Weak transcription	Placenta Amnion	Placenta Amnion

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