Variant report

Variant	rs3784116
Chromosome Location	chr14:68851441-68851442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:68851022-68851548	A549	lung:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
2	CEBPB	chr14:68851075-68851651	MCF-7	breast:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
3	CEBPB	chr14:68851162-68851494	A549	lung:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
4	CEBPB	chr14:68851146-68851498	HepG2	liver:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
5	CEBPB	chr14:68851171-68851524	K562	blood:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
6	CEBPB	chr14:68851120-68851524	IMR90	lung:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
7	MYC	chr14:68851272-68851448	NB4	blood:	n/a	n/a
8	CEBPB	chr14:68851075-68851567	MCF-7	breast:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
9	CEBPB	chr14:68851154-68851536	ECC-1	luminal epithelium:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
10	CEBPB	chr14:68851174-68851443	H1-hESC	embryonic stem cell:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339
11	CEBPB	chr14:68851199-68851501	Hela-S3	cervix:	n/a	chr14:68851330-68851341 chr14:68851330-68851339 chr14:68851328-68851339

No.	Distal block	Cell Line	Cell type
1	chr14:68848862..68851704-chr14:68911488..68914021,2	MCF-7	breast:
2	chr14:68850472..68852853-chr14:69251979..69254595,2	MCF-7	breast:
3	chr14:68850065..68853028-chr14:68854174..68855948,2	MCF-7	breast:
4	chr14:68846943..68849036-chr14:68850904..68853238,2	MCF-7	breast:
5	chr14:68849279..68853036-chr14:68925939..68929072,3	MCF-7	breast:
6	chr14:68850229..68852083-chr14:68852247..68855220,2	MCF-7	breast:

Variant related genes	Relation type
RAD51B	TF binding region
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1006816	0.86[JPT][hapmap]
rs11158733	0.83[ASN][1000 genomes]
rs12889666	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12889770	0.90[CHD][hapmap];0.95[JPT][hapmap]
rs12898087	0.84[ASN][1000 genomes]
rs1885014	0.81[LWK][hapmap]
rs1956537	0.86[JPT][hapmap]
rs3784117	0.82[CHD][hapmap];0.87[JPT][hapmap]
rs3784120	0.86[JPT][hapmap]
rs3950069	0.83[JPT][hapmap]
rs4902574	0.89[CEU][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap]
rs4902576	0.95[JPT][hapmap]
rs4902577	0.95[JPT][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3784116	MED6	cis	cerebellum	SCAN
rs3784116	ACTN1	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68832000-68851600	Weak transcription	Lung	lung
2	chr14:68844600-68858000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:68844600-68859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:68844800-68853000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:68845200-68853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:68845200-68853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:68845200-68858800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:68845800-68853200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr14:68847600-68859000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:68847600-68862600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68848000-68853800	Weak transcription	Osteobl	bone
12	chr14:68848200-68856600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:68848800-68857200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:68849400-68854600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:68849800-68851800	Enhancers	Primary B cells from cord blood	blood
16	chr14:68850000-68852000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr14:68850000-68852000	Enhancers	Left Ventricle	heart
18	chr14:68850000-68852200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr14:68850000-68852200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:68850000-68852200	Enhancers	Fetal Thymus	thymus
21	chr14:68850000-68852400	Enhancers	Fetal Muscle Leg	muscle
22	chr14:68850000-68852400	Enhancers	Right Atrium	heart
23	chr14:68850000-68852600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr14:68850000-68855800	Enhancers	Rectal Smooth Muscle	rectum
25	chr14:68850200-68851600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr14:68850200-68851800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:68850200-68851800	Enhancers	Fetal Kidney	kidney
28	chr14:68850200-68851800	Enhancers	Fetal Stomach	stomach
29	chr14:68850200-68852200	Enhancers	Adipose Nuclei	Adipose
30	chr14:68850200-68852200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:68850200-68852200	Enhancers	HepG2	liver
32	chr14:68850200-68852400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr14:68850200-68853800	Weak transcription	Liver	Liver
34	chr14:68850200-68861000	Enhancers	Colon Smooth Muscle	Colon
35	chr14:68850400-68851800	Enhancers	Fetal Intestine Large	intestine
36	chr14:68850400-68852000	Enhancers	Primary hematopoietic stem cells	blood
37	chr14:68850400-68852000	Enhancers	Fetal Intestine Small	intestine
38	chr14:68850400-68852000	Enhancers	Pancreas	Pancrea
39	chr14:68850400-68852200	Enhancers	Placenta	Placenta
40	chr14:68850400-68852400	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr14:68850400-68854000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr14:68850400-68854600	Enhancers	Fetal Heart	heart
43	chr14:68850400-68857600	Weak transcription	Small Intestine	intestine
44	chr14:68850600-68851600	Weak transcription	Psoas Muscle	Psoas
45	chr14:68850600-68851800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr14:68850600-68851800	Weak transcription	Fetal Brain Female	brain
47	chr14:68850600-68851800	Enhancers	Stomach Mucosa	stomach
48	chr14:68850600-68852000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:68850600-68852000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:68850600-68852000	Enhancers	Fetal Muscle Trunk	muscle

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