Variant report

Variant	rs7145856
Chromosome Location	chr14:39589811-39589812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39582313..39585252-chr14:39588734..39592875,3	K562	blood:
2	chr14:39582595..39584912-chr14:39586260..39591171,5	MCF-7	breast:
3	chr14:39587019..39590328-chr14:39638099..39641680,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092208	Chromatin interaction
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12883114	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs17616347	1.00[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs17617123	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs17617289	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17679493	1.00[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1884383	1.00[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.92[GIH][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs1950508	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs1980612	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1980613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2038359	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2144527	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs2273315	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2415533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2753596	0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.84[TSI][hapmap]
rs7140282	1.00[ASW][hapmap];0.88[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]
rs715267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs8007240	0.88[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs8011244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8011494	1.00[CEU][hapmap]
rs8020013	0.88[CEU][hapmap];0.90[CHB][hapmap]
rs8020321	0.92[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7145856	TRAPPC6B	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39590000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:39584000-39595000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
5	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
6	chr14:39584200-39592000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
9	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:39584400-39591400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr14:39584400-39591800	Weak transcription	Right Ventricle	heart
12	chr14:39584400-39592000	Weak transcription	Brain Substantia Nigra	brain
13	chr14:39584400-39592000	Weak transcription	Fetal Kidney	kidney
14	chr14:39584400-39593400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
16	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
17	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
18	chr14:39584600-39590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr14:39584600-39590200	Weak transcription	Fetal Intestine Small	intestine
20	chr14:39584600-39590200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:39584600-39590200	Weak transcription	HUVEC	blood vessel
22	chr14:39584600-39590400	Weak transcription	Thymus	Thymus
23	chr14:39584600-39592400	Weak transcription	NHLF	lung
24	chr14:39584600-39597600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:39584600-39597800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:39584600-39597800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:39584600-39603600	Weak transcription	K562	blood
28	chr14:39584600-39604600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:39585200-39608200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:39585800-39594600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:39585800-39595000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:39585800-39608200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:39586000-39594800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:39586000-39595000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:39586000-39595000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:39586000-39595600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:39586000-39608000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr14:39586000-39608400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:39586000-39608600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:39586000-39608800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:39586200-39598600	Strong transcription	Dnd41	blood
44	chr14:39586600-39590800	Strong transcription	Adipose Nuclei	Adipose
45	chr14:39586600-39599800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr14:39586600-39610600	Strong transcription	HepG2	liver
47	chr14:39586800-39594800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:39586800-39594800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:39586800-39595200	Strong transcription	Fetal Thymus	thymus
50	chr14:39586800-39599400	Strong transcription	Primary B cells from peripheral blood	blood

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