Variant report

Variant	rs4906355
Chromosome Location	chr14:104131033-104131034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104093982..104097724-chr14:104126716..104132803,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10047805	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10131067	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1054080	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11160756	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11850979	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12897511	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2403203	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2896489	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35015260	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35686878	0.81[ASN][1000 genomes]
rs3742463	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3742465	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3759586	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4318144	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs4561394	0.85[ASN][1000 genomes]
rs4900583	0.83[ASN][1000 genomes]
rs4900584	0.83[ASN][1000 genomes]
rs4900586	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4900589	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906342	0.80[AFR][1000 genomes]
rs4906348	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4906349	0.82[ASN][1000 genomes]
rs4906352	0.80[ASN][1000 genomes]
rs4906358	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55647815	0.83[ASN][1000 genomes]
rs61436277	0.89[ASN][1000 genomes]
rs709399	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7154572	0.85[ASN][1000 genomes]
rs7155511	0.84[ASN][1000 genomes]
rs7156832	0.85[ASN][1000 genomes]
rs729437	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8003289	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8007903	0.84[ASN][1000 genomes]
rs8007915	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8008451	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018214	0.85[ASN][1000 genomes]
rs8021904	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs861530	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs861537	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs861544	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs861545	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs861547	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8702	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1052010	chr14:104061472-104216267	Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv542201	chr14:104061472-104216267	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv456435	chr14:104061646-104198251	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
6	nsv566023	chr14:104061646-104198251	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv902308	chr14:104087209-104211180	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv1041329	chr14:104097750-104196346	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv542202	chr14:104097750-104196346	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1048866	chr14:104100862-104195896	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription 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	38 gene(s)	inside rSNPs	diseases
11	nsv542203	chr14:104113463-104143782	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4906355	BAG5	Cis_1M	lymphoblastoid	RTeQTL
rs4906355	ZFYVE21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104097400-104156600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:104117800-104157000	Strong transcription	Dnd41	blood
3	chr14:104117800-104176000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr14:104118800-104175600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:104119000-104132200	Strong transcription	Primary T cells from cord blood	blood
6	chr14:104119200-104145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:104119200-104155600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr14:104119200-104173000	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:104119400-104145000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr14:104119400-104147800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr14:104119400-104157000	Strong transcription	Fetal Thymus	thymus
12	chr14:104119400-104161800	Strong transcription	Fetal Intestine Small	intestine
13	chr14:104119400-104164600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr14:104119400-104175200	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:104120000-104131800	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr14:104120000-104145600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr14:104120000-104177000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr14:104120200-104132400	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr14:104120200-104149800	Strong transcription	Fetal Muscle Leg	muscle
20	chr14:104120200-104155000	Strong transcription	Fetal Brain Female	brain
21	chr14:104120200-104161400	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr14:104120200-104161800	Strong transcription	Fetal Intestine Large	intestine
23	chr14:104120400-104131800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr14:104120400-104134800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:104120400-104150000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr14:104120400-104157000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:104120400-104157000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr14:104120400-104161200	Strong transcription	Fetal Stomach	stomach
29	chr14:104120600-104143200	Strong transcription	Left Ventricle	heart
30	chr14:104120600-104155000	Strong transcription	Brain Germinal Matrix	brain
31	chr14:104120800-104131800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:104120800-104131800	Strong transcription	Fetal Lung	lung
33	chr14:104120800-104132200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr14:104120800-104132600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr14:104120800-104157200	Strong transcription	Thymus	Thymus
36	chr14:104121000-104131800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr14:104121000-104154200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:104121000-104154800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:104121000-104162000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:104121400-104132200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:104122600-104131400	Strong transcription	GM12878-XiMat	blood
42	chr14:104122800-104132200	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:104122800-104153000	Strong transcription	Liver	Liver
44	chr14:104123400-104131800	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr14:104123400-104144600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr14:104123400-104155200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:104124400-104131800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr14:104124400-104134000	Weak transcription	Fetal Heart	heart
49	chr14:104124600-104147800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:104124600-104169800	Strong transcription	Primary monocytes fromperipheralblood	blood

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