Variant report

Variant	rs7834481
Chromosome Location	chr8:55078217-55078218
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:55051494..55052804-chr8:55078053..55079182,7	MCF-7	breast:
2	chr8:54933839..54936004-chr8:55076610..55079390,2	MCF-7	breast:
3	chr8:55051516..55052282-chr8:55078096..55078910,2	K562	blood:
4	chr8:55063976..55066123-chr8:55076521..55079309,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251835	Chromatin interaction
ENSG00000187735	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11985706	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11996919	0.81[ASN][1000 genomes]
rs13275258	0.82[MEX][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs2137955	0.82[ASN][1000 genomes]
rs2375695	0.82[ASN][1000 genomes]
rs4737503	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4738692	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs4738693	0.82[ASN][1000 genomes]
rs57136957	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66939651	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68108832	0.82[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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv429918	chr8:55069061-55124075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7834481	MRPL15	cis	lymphoblastoid	seeQTL
rs7834481	TCEA1	cis	lymphoblastoid	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55061600-55078400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:55062200-55078400	Weak transcription	Right Atrium	heart
3	chr8:55063400-55078400	Weak transcription	Ovary	ovary
4	chr8:55064600-55078400	Weak transcription	Fetal Muscle Leg	muscle
5	chr8:55067200-55078400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:55071800-55078400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:55072200-55078400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:55077400-55078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:55077800-55078400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:55078000-55078400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:55078000-55078400	Enhancers	Fetal Intestine Large	intestine
12	chr8:55078000-55078400	Enhancers	Fetal Intestine Small	intestine
13	chr8:55078000-55078400	Enhancers	HSMMtube	muscle
14	chr8:55078000-55078400	Enhancers	NHLF	lung
15	chr8:55078000-55078800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:55078200-55078400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr8:55078200-55078400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:55078200-55078400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:55078200-55078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:55078200-55078400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:55078200-55078400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr8:55078200-55078400	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:55078200-55078400	Enhancers	Primary T cells from cord blood	blood
24	chr8:55078200-55078400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:55078200-55078400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:55078200-55078400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:55078200-55078400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:55078200-55078400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:55078200-55078400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:55078200-55078400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:55078200-55078400	Active TSS	Adipose Nuclei	Adipose
32	chr8:55078200-55078400	Enhancers	Liver	Liver
33	chr8:55078200-55078400	Enhancers	Brain Anterior Caudate	brain
34	chr8:55078200-55078400	Enhancers	Brain Cingulate Gyrus	brain
35	chr8:55078200-55078400	Flanking Active TSS	Brain Substantia Nigra	brain
36	chr8:55078200-55078400	Enhancers	Colonic Mucosa	Colon
37	chr8:55078200-55078400	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:55078200-55078400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr8:55078200-55078400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:55078200-55078400	Enhancers	Fetal Brain Female	brain
41	chr8:55078200-55078400	Enhancers	Fetal Lung	lung
42	chr8:55078200-55078400	Enhancers	Left Ventricle	heart
43	chr8:55078200-55078400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:55078200-55078400	Enhancers	Rectal Smooth Muscle	rectum
45	chr8:55078200-55078400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr8:55078200-55078400	Enhancers	Dnd41	blood
47	chr8:55078200-55078400	Flanking Active TSS	HepG2	liver
48	chr8:55078200-55078400	Enhancers	NHEK	skin
49	chr8:55078200-55078400	Enhancers	Osteobl	bone
50	chr8:55078200-55078600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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