Variant report

Variant	rs7154587
Chromosome Location	chr14:104022750-104022751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104022338..104024927-chr14:104181805..104183745,2	MCF-7	breast:
2	chr14:104002894..104005189-chr14:104020540..104022849,2	K562	blood:
3	chr14:104013569..104015477-chr14:104021457..104023719,2	K562	blood:
4	chr14:103991343..103994487-chr14:104021014..104023570,3	MCF-7	breast:
5	chr14:104022023..104026446-chr14:104027134..104030443,10	MCF-7	breast:
6	chr14:104021728..104024444-chr14:104089391..104091550,2	K562	blood:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction
ENSG00000126215	Chromatin interaction
ENSG00000100711	Chromatin interaction
ENSG00000166170	Chromatin interaction
ENSG00000256053	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10140410	0.89[EUR][1000 genomes]
rs10143293	0.90[EUR][1000 genomes]
rs10149249	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11621777	0.89[EUR][1000 genomes]
rs11626658	0.87[EUR][1000 genomes]
rs2274268	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2274269	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28513222	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28514618	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28660416	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28744517	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55864158	0.90[EUR][1000 genomes]
rs56017123	0.88[EUR][1000 genomes]
rs57447494	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59281218	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60802358	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61996716	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61996717	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61996718	0.86[ASN][1000 genomes]
rs61996721	0.89[EUR][1000 genomes]
rs7142883	0.88[EUR][1000 genomes]
rs7154948	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7693	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs942863	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
8	nsv902303	chr14:103979953-104034746	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
11	esv1839595	chr14:103987140-104034746	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7154587	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs7154587	MARK3	cis	Thyroid	GTEx
rs7154587	APOPT1	cis	Muscle Skeletal	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103996800-104023400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:104002800-104023400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr14:104007200-104024400	Weak transcription	Fetal Kidney	kidney
4	chr14:104009800-104023400	Weak transcription	Fetal Thymus	thymus
5	chr14:104010000-104023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr14:104010200-104023600	Weak transcription	Liver	Liver
7	chr14:104010400-104023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:104010600-104024200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:104010600-104025000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:104011400-104025000	Weak transcription	Ovary	ovary
11	chr14:104011400-104027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:104013200-104024600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:104013400-104023400	Weak transcription	Dnd41	blood
14	chr14:104013600-104023000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr14:104013600-104023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:104013600-104023400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:104013600-104023600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr14:104013600-104024200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:104013600-104027600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:104013800-104024600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:104014600-104023200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:104016400-104023400	Weak transcription	HUVEC	blood vessel
23	chr14:104017400-104022800	Weak transcription	Fetal Brain Female	brain
24	chr14:104017400-104023400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:104017400-104024400	Weak transcription	HepG2	liver
26	chr14:104017400-104024800	Weak transcription	GM12878-XiMat	blood
27	chr14:104017400-104025800	Weak transcription	Fetal Brain Male	brain
28	chr14:104017600-104023200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:104017600-104027200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr14:104017800-104023400	Weak transcription	Fetal Intestine Large	intestine
31	chr14:104017800-104024800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:104018200-104023400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:104018200-104023400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:104018200-104024400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:104018200-104026200	Weak transcription	Pancreas	Pancrea
36	chr14:104018200-104026400	Weak transcription	Small Intestine	intestine
37	chr14:104018600-104023200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:104018600-104023600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:104018600-104024400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:104018800-104023200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr14:104018800-104023400	Weak transcription	Brain Hippocampus Middle	brain
42	chr14:104018800-104023400	Weak transcription	Fetal Lung	lung
43	chr14:104018800-104023400	Weak transcription	Placenta	Placenta
44	chr14:104019000-104023200	Weak transcription	Brain Angular Gyrus	brain
45	chr14:104019000-104023400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:104019000-104026800	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:104019200-104023200	Weak transcription	Brain Anterior Caudate	brain
48	chr14:104019200-104023200	Weak transcription	Brain Substantia Nigra	brain
49	chr14:104019200-104023400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr14:104019200-104023400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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