Variant report

Variant	rs3784115
Chromosome Location	chr14:68846822-68846823
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	chr14:68830853..68833594-chr14:68845594..68847240,2	MCF-7	breast:
2	chr14:68845018..68847710-chr14:69258981..69260905,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11158732	0.88[CEU][hapmap]
rs11625452	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs11627490	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628653	0.85[CEU][hapmap]
rs1885014	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1956537	0.86[CHD][hapmap]
rs1977211	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2009721	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2025009	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[ASN][1000 genomes]
rs2208396	0.91[EUR][1000 genomes]
rs2331693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877461	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784120	0.86[CHD][hapmap]
rs3950069	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55749276	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58339869	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59993918	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61039700	0.83[EUR][1000 genomes]
rs61986905	0.92[EUR][1000 genomes]
rs61986906	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61986910	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013236	0.80[CEU][hapmap]
rs8014025	0.89[CEU][hapmap];0.91[TSI][hapmap]
rs8014234	0.88[CEU][hapmap]
rs8018477	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8021199	1.00[CEU][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs927221	0.83[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3784115	DCAF5	cis	parietal	SCAN
rs3784115	CHURC1	cis	parietal	SCAN
rs3784115	MED6	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68832000-68851600	Weak transcription	Lung	lung
2	chr14:68836400-68847000	Weak transcription	Aorta	Aorta
3	chr14:68839800-68850600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:68840600-68847600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr14:68840600-68847800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:68840800-68847400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr14:68840800-68847400	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr14:68840800-68847600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr14:68840800-68847600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:68841400-68847200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:68842400-68850400	Weak transcription	Pancreas	Pancrea
12	chr14:68843400-68850000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:68843600-68850600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr14:68843800-68847400	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr14:68844000-68850000	Weak transcription	Right Ventricle	heart
16	chr14:68844200-68848800	Weak transcription	Psoas Muscle	Psoas
17	chr14:68844400-68850000	Weak transcription	Right Atrium	heart
18	chr14:68844600-68847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:68844600-68847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:68844600-68847200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:68844600-68847200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr14:68844600-68847200	Weak transcription	NHEK	skin
23	chr14:68844600-68847800	Enhancers	Adipose Nuclei	Adipose
24	chr14:68844600-68850000	Weak transcription	Fetal Thymus	thymus
25	chr14:68844600-68850000	Weak transcription	Left Ventricle	heart
26	chr14:68844600-68850000	Weak transcription	Ovary	ovary
27	chr14:68844600-68850000	Weak transcription	Small Intestine	intestine
28	chr14:68844600-68850600	Weak transcription	A549	lung
29	chr14:68844600-68851000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr14:68844600-68851000	Weak transcription	NHLF	lung
31	chr14:68844600-68851200	Weak transcription	Spleen	Spleen
32	chr14:68844600-68851400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:68844600-68858000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:68844600-68859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:68844800-68850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:68844800-68853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:68845000-68850200	Weak transcription	Fetal Kidney	kidney
38	chr14:68845000-68850200	Weak transcription	HepG2	liver
39	chr14:68845000-68850400	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr14:68845000-68850400	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:68845000-68850400	Weak transcription	Fetal Intestine Small	intestine
42	chr14:68845200-68849400	Weak transcription	Brain Hippocampus Middle	brain
43	chr14:68845200-68849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:68845200-68850000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr14:68845200-68850000	Weak transcription	Primary B cells from peripheral blood	blood
46	chr14:68845200-68850000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:68845200-68850000	Weak transcription	Brain Substantia Nigra	brain
48	chr14:68845200-68850200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:68845200-68850200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:68845200-68853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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