Variant report

Variant	rs12510975
Chromosome Location	chr4:47461051-47461052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47460857..47463494-chr4:47464329..47466944,2	MCF-7	breast:
2	chr4:47460523..47463508-chr4:47463640..47467389,5	MCF-7	breast:
3	chr4:47397863..47399973-chr4:47459020..47461928,2	K562	blood:

Variant related genes	Relation type
ENSG00000169019	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10016916	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10017560	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028945	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10470771	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11934717	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11940241	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13434696	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16860198	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4130363	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4403019	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4635794	0.81[EUR][1000 genomes]
rs62297852	0.91[ASN][1000 genomes]
rs62297855	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297856	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62297858	0.94[ASN][1000 genomes]
rs62300077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62300078	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234555	0.94[ASN][1000 genomes]
rs73234578	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234586	0.88[ASN][1000 genomes]
rs73234587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7436716	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672333	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678771	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7679148	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7693987	0.81[EUR][1000 genomes]
rs9998407	0.81[EUR][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	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47436800-47465000	Weak transcription	Gastric	stomach
2	chr4:47438600-47464200	Weak transcription	Small Intestine	intestine
3	chr4:47442200-47464000	Weak transcription	Left Ventricle	heart
4	chr4:47443600-47464000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:47445400-47465000	Weak transcription	Lung	lung
6	chr4:47445600-47464000	Weak transcription	Pancreas	Pancrea
7	chr4:47445600-47464200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:47445600-47464200	Weak transcription	Thymus	Thymus
9	chr4:47445800-47465000	Weak transcription	Aorta	Aorta
10	chr4:47446000-47465000	Weak transcription	Esophagus	oesophagus
11	chr4:47446600-47463000	Weak transcription	Brain Anterior Caudate	brain
12	chr4:47447000-47461400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:47449600-47464200	Weak transcription	Fetal Brain Male	brain
14	chr4:47449800-47465000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:47450600-47464400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:47450600-47464600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:47450600-47464800	Weak transcription	Colonic Mucosa	Colon
18	chr4:47450600-47464800	Weak transcription	A549	lung
19	chr4:47450800-47463600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr4:47451000-47464400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:47451400-47462400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:47451400-47464000	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:47451800-47461800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr4:47451800-47462200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr4:47451800-47464600	Weak transcription	Hela-S3	cervix
26	chr4:47452000-47461600	Strong transcription	Primary B cells from cord blood	blood
27	chr4:47452000-47464600	Weak transcription	K562	blood
28	chr4:47452400-47463600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr4:47452400-47464000	Weak transcription	HepG2	liver
30	chr4:47452400-47464800	Weak transcription	Right Ventricle	heart
31	chr4:47452400-47465000	Weak transcription	Psoas Muscle	Psoas
32	chr4:47452600-47464400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:47452600-47465200	Weak transcription	Spleen	Spleen
34	chr4:47453800-47464200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:47453800-47464800	Weak transcription	HSMMtube	muscle
36	chr4:47454000-47463400	Weak transcription	Brain Substantia Nigra	brain
37	chr4:47454000-47463800	Weak transcription	Brain Angular Gyrus	brain
38	chr4:47454000-47465000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:47454200-47462800	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:47454200-47463000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr4:47454200-47464600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:47454200-47464800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr4:47454200-47465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr4:47454400-47463800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:47454600-47463000	Weak transcription	GM12878-XiMat	blood
46	chr4:47454600-47463200	Weak transcription	Fetal Heart	heart
47	chr4:47454600-47464800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr4:47454600-47465000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr4:47455200-47464000	Weak transcription	Brain Germinal Matrix	brain
50	chr4:47455200-47464400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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