Variant report

Variant	rs152621
Chromosome Location	chr5:14583006-14583007
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14582585..14585698-chr5:14586097..14589501,3	MCF-7	breast:
2	chr5:14582227..14584118-chr5:14585804..14588637,2	K562	blood:
3	chr5:14582284..14584528-chr5:14622359..14624603,2	MCF-7	breast:
4	chr5:14487528..14489858-chr5:14581341..14583372,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13172589	1.00[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs152619	0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs152765	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs25959	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs25960	0.86[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs25961	1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap]
rs26172	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs26177	0.89[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs26179	0.86[ASN][1000 genomes]
rs31971	0.90[ASN][1000 genomes]
rs31972	0.88[ASN][1000 genomes]
rs31974	1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs31975	0.93[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs31976	0.93[ASN][1000 genomes]
rs36103605	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv1793651	chr5:14575698-14584695	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1839029	chr5:14581556-14584695	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv1837510	chr5:14581556-14591004	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv1817801	chr5:14581766-14583006	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv1848779	chr5:14581766-14583006	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv597247	chr5:14581766-14583006	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs152621	FAM105B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14580800-14583400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:14580800-14583400	Active TSS	Colonic Mucosa	Colon
3	chr5:14581000-14583200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr5:14581000-14583400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:14581200-14583200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr5:14581200-14583200	Active TSS	Brain Anterior Caudate	brain
7	chr5:14581200-14583200	Active TSS	Fetal Brain Female	brain
8	chr5:14581200-14583400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr5:14581200-14583400	Active TSS	Brain Angular Gyrus	brain
10	chr5:14581400-14583200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
11	chr5:14581400-14583200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr5:14581400-14583200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:14581400-14583200	Active TSS	Fetal Kidney	kidney
14	chr5:14581400-14583400	Active TSS	Brain Cingulate Gyrus	brain
15	chr5:14581400-14583400	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr5:14581400-14584000	Active TSS	Rectal Smooth Muscle	rectum
17	chr5:14581400-14584400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr5:14581600-14583400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr5:14581600-14585200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr5:14581800-14583200	Bivalent/Poised TSS	Osteobl	bone
21	chr5:14582200-14583200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:14582200-14583200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:14582200-14583200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr5:14582200-14583200	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr5:14582200-14583200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
26	chr5:14582200-14583200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr5:14582200-14583200	Flanking Active TSS	Placenta	Placenta
28	chr5:14582400-14583200	Bivalent/Poised TSS	Stomach Mucosa	stomach
29	chr5:14582600-14583200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:14582600-14583200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr5:14582600-14583200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr5:14582600-14583200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:14582600-14583200	Enhancers	Fetal Lung	lung
34	chr5:14582600-14583200	Flanking Active TSS	Fetal Thymus	thymus
35	chr5:14582600-14583200	Enhancers	Spleen	Spleen
36	chr5:14582600-14583400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr5:14582600-14583400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr5:14582600-14583400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr5:14582600-14583400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:14582600-14583600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr5:14582600-14583800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr5:14582600-14583800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr5:14582800-14583200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:14582800-14583200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:14582800-14583200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr5:14582800-14583200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr5:14582800-14583200	Enhancers	Liver	Liver
48	chr5:14582800-14583200	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr5:14582800-14583200	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr5:14582800-14583200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine

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