Variant report

Variant	rs34888281
Chromosome Location	chr7:65585771-65585772
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	chr7:65584865..65587409-chr7:66055875..66058310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232559	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35072105	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35510581	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4433015	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4636083	0.81[ASN][1000 genomes]
rs6968534	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs34888281	RP4-756H11.3	cis	Thyroid	GTEx
rs34888281	RP4-756H11.3	cis	Artery Aorta	GTEx
rs34888281	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs34888281	RP4-756H11.3	cis	Artery Tibial	GTEx
rs34888281	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs34888281	RP4-756H11.3	cis	lung	GTEx
rs34888281	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs34888281	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs34888281	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs34888281	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs34888281	RP4-756H11.3	cis	Muscle Skeletal	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65580600-65591000	Weak transcription	Ovary	ovary
2	chr7:65580600-65600600	Weak transcription	Aorta	Aorta
3	chr7:65580800-65606800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:65581000-65587400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:65581000-65589600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr7:65581000-65595600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:65581000-65595600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:65581000-65595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:65581000-65597000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:65581000-65617200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:65581200-65586200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:65581200-65590200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:65581200-65590600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:65581200-65596000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:65581400-65589600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:65581400-65590400	Weak transcription	Osteobl	bone
17	chr7:65581400-65595400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr7:65581400-65595800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:65581400-65596400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:65581600-65589400	Weak transcription	HSMMtube	muscle
21	chr7:65581600-65604800	Weak transcription	Colonic Mucosa	Colon
22	chr7:65581800-65589400	Weak transcription	HSMM	muscle
23	chr7:65581800-65589600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:65581800-65590200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:65581800-65595200	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:65581800-65595600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:65581800-65595800	Weak transcription	Stomach Smooth Muscle	stomach
28	chr7:65582000-65595200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:65582000-65595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:65582400-65589600	Weak transcription	NHDF-Ad	bronchial
31	chr7:65582400-65608200	Weak transcription	Fetal Brain Male	brain
32	chr7:65582600-65586400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:65582600-65595000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:65582600-65596400	Weak transcription	NH-A	brain
35	chr7:65582800-65586000	Enhancers	Adipose Nuclei	Adipose
36	chr7:65583000-65586800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr7:65583000-65586800	Weak transcription	Hela-S3	cervix
38	chr7:65583000-65589600	Weak transcription	Small Intestine	intestine
39	chr7:65583000-65594400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:65583000-65596000	Weak transcription	Thymus	Thymus
41	chr7:65583200-65592400	Weak transcription	Right Ventricle	heart
42	chr7:65583400-65592200	Weak transcription	Lung	lung
43	chr7:65583600-65593600	Weak transcription	Primary B cells from cord blood	blood
44	chr7:65583800-65589600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr7:65584200-65588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:65584400-65586400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:65584400-65586800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:65584400-65589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:65584400-65589800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr7:65584400-65590800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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