Variant report

Variant	rs10504060
Chromosome Location	chr8:48281478-48281479
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	chr8:48280382..48283263-chr8:48648122..48652692,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11780811	0.86[AFR][1000 genomes]
rs11782572	0.83[LWK][hapmap]
rs6982620	1.00[LWK][hapmap]
rs72646306	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646320	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1034660	chr8:48265109-48411279	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10504060	KIAA0146	cis	cerebellum	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
2	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:48262400-48309600	Weak transcription	Fetal Stomach	stomach
4	chr8:48263200-48297200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr8:48266600-48297200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:48266800-48290200	Weak transcription	HSMMtube	muscle
7	chr8:48266800-48297000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:48267000-48295400	Weak transcription	HSMM	muscle
9	chr8:48267800-48295000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:48270000-48282000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr8:48272400-48281800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:48274200-48282400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:48274800-48281600	Weak transcription	GM12878-XiMat	blood
14	chr8:48276200-48283000	Enhancers	Fetal Lung	lung
15	chr8:48277200-48285600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:48277600-48281800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:48277800-48282000	Weak transcription	Right Atrium	heart
18	chr8:48277800-48282600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:48278200-48281600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:48278600-48281800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:48278800-48281600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:48278800-48309000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr8:48279000-48281600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:48279000-48281600	Weak transcription	K562	blood
25	chr8:48279000-48281800	Weak transcription	NHEK	skin
26	chr8:48279000-48282000	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:48279000-48282000	Weak transcription	Placenta	Placenta
28	chr8:48279000-48282000	Weak transcription	Psoas Muscle	Psoas
29	chr8:48279000-48291800	Weak transcription	Esophagus	oesophagus
30	chr8:48279000-48299600	Weak transcription	Spleen	Spleen
31	chr8:48279000-48310200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:48279200-48284600	Enhancers	Hela-S3	cervix
33	chr8:48279200-48290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:48279400-48282000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:48279600-48281600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:48280000-48282200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr8:48280400-48281600	Weak transcription	Fetal Intestine Large	intestine
38	chr8:48280400-48281600	Weak transcription	Stomach Mucosa	stomach
39	chr8:48280400-48281800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:48280400-48282800	Enhancers	Adipose Nuclei	Adipose
41	chr8:48280400-48283400	Weak transcription	Lung	lung
42	chr8:48280400-48284000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr8:48280400-48284400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr8:48280400-48289800	Weak transcription	Small Intestine	intestine
45	chr8:48280600-48281600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:48280600-48282400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr8:48280600-48311200	Weak transcription	Aorta	Aorta
48	chr8:48280800-48281600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:48280800-48282000	Weak transcription	Pancreas	Pancrea
50	chr8:48280800-48282800	Enhancers	Dnd41	blood

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