Variant report

Variant	rs1255634
Chromosome Location	chr14:63972655-63972656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63970368..63973107-chr14:63976756..63979784,4	MCF-7	breast:
2	chr14:63971912..63974068-chr14:63985284..63988078,2	MCF-7	breast:
3	chr14:63972289..63974872-chr14:64009949..64011890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261242	Chromatin interaction
ENSG00000154001	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11851954	1.00[CHB][hapmap]
rs1255640	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs17101287	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2356463	0.89[JPT][hapmap]
rs28894732	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72714300	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716303	0.91[AMR][1000 genomes]
rs72716310	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72716311	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72716317	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72716321	0.83[EUR][1000 genomes]
rs72716326	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs1255634	FAM131C	trans	brain	seeQTL
rs1255634	CLCNKA	trans	brain	seeQTL
rs1255634	WSCD2	trans	brain	seeQTL
rs1255634	PCP2	trans	brain	seeQTL
rs1255634	ESPNL	trans	brain	seeQTL
rs1255634	KRT31	trans	brain	seeQTL
rs1255634	ZIC1	trans	brain	seeQTL
rs1255634	EOMES	trans	brain	seeQTL

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63939000-63976800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:63946200-63976800	Weak transcription	Small Intestine	intestine
3	chr14:63950600-63974800	Weak transcription	Gastric	stomach
4	chr14:63950800-63975200	Weak transcription	Thymus	Thymus
5	chr14:63951000-63974800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr14:63951000-64003200	Weak transcription	Ovary	ovary
7	chr14:63952000-63974600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:63952800-63974800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:63953600-63976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:63955000-63975000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:63955200-63973600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:63955200-63975000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr14:63955200-63977000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr14:63955200-63977800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr14:63955400-63973600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr14:63959000-63976800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:63959800-63973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:63960000-63978000	Weak transcription	NHLF	lung
19	chr14:63960000-63983400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:63960000-64005000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:63960200-63977000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:63960200-63983200	Weak transcription	NH-A	brain
23	chr14:63960200-64008600	Weak transcription	HSMMtube	muscle
24	chr14:63960400-63974600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:63960400-63974800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:63960400-63974800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:63960400-63974800	Weak transcription	Fetal Thymus	thymus
28	chr14:63960400-63976600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:63960400-63980200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr14:63960400-63980600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:63960400-63991000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:63960600-63973400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:63960600-63973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:63960600-63979800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr14:63960600-63987000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:63960800-63973400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:63961000-63976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:63961200-63974800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:63962200-63977000	Weak transcription	Dnd41	blood
40	chr14:63962800-63974600	Weak transcription	Spleen	Spleen
41	chr14:63962800-63990600	Weak transcription	Right Ventricle	heart
42	chr14:63963200-63977000	Weak transcription	Pancreas	Pancrea
43	chr14:63963200-63980400	Weak transcription	Psoas Muscle	Psoas
44	chr14:63963600-63977800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:63963800-63973200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:63963800-63977200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr14:63963800-63977800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:63964000-63990400	Weak transcription	Fetal Kidney	kidney
49	chr14:63964200-63981000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr14:63964400-63972800	Weak transcription	HUVEC	blood vessel

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