Variant report

Variant	rs8034167
Chromosome Location	chr15:52340222-52340223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:52309859..52315433-chr15:52338782..52357079,28	MCF-7	breast:
2	chr15:52331526..52333859-chr15:52340163..52342919,2	K562	blood:
3	chr15:52339219..52341051-chr15:52343518..52345839,3	MCF-7	breast:
4	chr15:52327906..52330801-chr15:52336087..52340276,6	MCF-7	breast:
5	chr15:52339448..52341029-chr15:52351279..52354022,2	MCF-7	breast:
6	chr15:52339947..52342319-chr15:52368984..52372783,3	MCF-7	breast:
7	chr15:52311160..52314129-chr15:52338657..52341063,3	MCF-7	breast:
8	chr15:52294207..52297195-chr15:52339559..52341402,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259438	Chromatin interaction
ENSG00000069956	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10518674	0.81[CHD][hapmap];0.90[GIH][hapmap]
rs10851507	0.91[CHB][hapmap];0.92[GIH][hapmap]
rs11070875	0.80[JPT][hapmap]
rs11070877	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636443	0.81[CHD][hapmap]
rs2017974	0.94[EUR][1000 genomes]
rs2414127	0.83[CHB][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2414128	0.95[JPT][hapmap]
rs2959283	0.83[GIH][hapmap]
rs4542605	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627278	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4775999	0.88[GIH][hapmap]
rs7163418	0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs7166425	0.97[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	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8034167	EID1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
3	chr15:52325800-52342200	Weak transcription	HUVEC	blood vessel
4	chr15:52326800-52342800	Weak transcription	Fetal Brain Female	brain
5	chr15:52327000-52340600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:52332400-52348200	Weak transcription	Colonic Mucosa	Colon
7	chr15:52332600-52340400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:52332600-52342400	Weak transcription	NHDF-Ad	bronchial
9	chr15:52332600-52349000	Weak transcription	Esophagus	oesophagus
10	chr15:52332600-52349400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr15:52332600-52350800	Weak transcription	Aorta	Aorta
12	chr15:52332600-52361800	Weak transcription	Gastric	stomach
13	chr15:52332800-52340400	Weak transcription	Brain Germinal Matrix	brain
14	chr15:52332800-52340400	Weak transcription	Placenta	Placenta
15	chr15:52332800-52344400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr15:52333000-52340400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:52333000-52341000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:52333000-52341000	Weak transcription	HSMM	muscle
19	chr15:52333000-52344200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:52333000-52344400	Weak transcription	Left Ventricle	heart
21	chr15:52333000-52345400	Weak transcription	Lung	lung
22	chr15:52333000-52348200	Weak transcription	HSMMtube	muscle
23	chr15:52333000-52350800	Weak transcription	Right Ventricle	heart
24	chr15:52333000-52351000	Weak transcription	Spleen	Spleen
25	chr15:52333200-52340800	Weak transcription	Adipose Nuclei	Adipose
26	chr15:52333200-52342800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr15:52333200-52348600	Weak transcription	Colon Smooth Muscle	Colon
28	chr15:52334000-52361400	Weak transcription	Small Intestine	intestine
29	chr15:52334200-52343800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:52334400-52343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:52334600-52340400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr15:52334600-52344200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr15:52334600-52344200	Weak transcription	Fetal Kidney	kidney
34	chr15:52334600-52357200	Weak transcription	Fetal Heart	heart
35	chr15:52334800-52350200	Weak transcription	Psoas Muscle	Psoas
36	chr15:52335000-52340400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:52335000-52344200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr15:52335000-52344200	Weak transcription	Hela-S3	cervix
39	chr15:52335000-52348000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:52335400-52341800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:52335400-52344200	Weak transcription	Ovary	ovary
42	chr15:52335400-52350800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr15:52335400-52350800	Weak transcription	Pancreas	Pancrea
44	chr15:52336400-52340800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:52337400-52341600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:52337600-52344000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr15:52337600-52360600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:52337800-52341400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:52337800-52357000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:52338000-52344200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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