Variant report

Variant	rs12547540
Chromosome Location	chr8:131200745-131200746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131194316..131196588-chr8:131199772..131201320,2	MCF-7	breast:
2	chr8:131192568..131195511-chr8:131198204..131200950,2	K562	blood:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10109236	0.80[EUR][1000 genomes]
rs10505548	0.83[ASN][1000 genomes]
rs10505549	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10956513	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956515	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10956517	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11781752	0.93[ASN][1000 genomes]
rs12541083	0.80[EUR][1000 genomes]
rs12542411	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12545910	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12546603	0.81[ASN][1000 genomes]
rs12547397	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12675390	0.92[ASN][1000 genomes]
rs12675543	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12676836	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12681954	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12681955	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1469286	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549455	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893271	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16904204	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs16904208	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16904212	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16904219	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16904223	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16904231	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16904239	0.85[EUR][1000 genomes]
rs16904241	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16904242	0.80[EUR][1000 genomes]
rs16904249	0.80[AMR][1000 genomes]
rs1960661	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1974313	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2305511	0.91[ASN][1000 genomes]
rs36004574	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3812476	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4733569	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4733573	0.83[EUR][1000 genomes]
rs4733771	0.84[AMR][1000 genomes]
rs4733772	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733782	0.85[EUR][1000 genomes]
rs4733783	0.80[AMR][1000 genomes]
rs55759245	0.88[ASN][1000 genomes]
rs55993168	0.89[ASN][1000 genomes]
rs57198371	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59297824	0.81[ASN][1000 genomes]
rs62524627	0.81[ASN][1000 genomes]
rs62524628	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs62524632	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs62524635	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62524643	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62524644	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62524647	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62524649	0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62525884	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62525885	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62525888	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525889	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525921	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62525922	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62525927	0.85[EUR][1000 genomes]
rs62525928	0.85[EUR][1000 genomes]
rs6415511	0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6470813	0.82[AFR][1000 genomes]
rs6991714	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996106	0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs6996469	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7006336	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs716077	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs72722330	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs72722366	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72722371	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72724420	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72724433	0.81[EUR][1000 genomes]
rs7462286	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs754021	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv831461	chr8:131159819-131302900	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131146600-131206000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:131155200-131206800	Weak transcription	Psoas Muscle	Psoas
3	chr8:131171000-131208600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:131172200-131211600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:131172600-131206800	Weak transcription	Esophagus	oesophagus
6	chr8:131172800-131210800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:131173600-131206600	Weak transcription	Dnd41	blood
8	chr8:131175400-131206000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr8:131179000-131208600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:131179200-131208600	Weak transcription	Fetal Brain Female	brain
11	chr8:131179600-131218400	Weak transcription	Thymus	Thymus
12	chr8:131179800-131205000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:131179800-131206800	Weak transcription	Fetal Thymus	thymus
14	chr8:131179800-131207800	Weak transcription	Brain Germinal Matrix	brain
15	chr8:131180000-131206000	Weak transcription	K562	blood
16	chr8:131180200-131207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:131181000-131208600	Weak transcription	Right Ventricle	heart
18	chr8:131181000-131224600	Weak transcription	Hela-S3	cervix
19	chr8:131181200-131206000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:131181200-131229000	Weak transcription	Aorta	Aorta
21	chr8:131184400-131206800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:131186000-131206800	Weak transcription	Gastric	stomach
23	chr8:131187800-131209000	Weak transcription	Fetal Stomach	stomach
24	chr8:131188400-131206000	Weak transcription	HSMMtube	muscle
25	chr8:131189400-131203800	Weak transcription	HMEC	breast
26	chr8:131191400-131205800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:131191600-131206000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:131191800-131206400	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:131193200-131206000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:131194800-131204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:131195000-131204800	Weak transcription	Ovary	ovary
32	chr8:131195000-131206000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr8:131195000-131206000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:131195000-131206000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:131195000-131206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:131195000-131224200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:131195200-131203600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:131195200-131203800	Weak transcription	Primary hematopoietic stem cells	blood
39	chr8:131195200-131212400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:131195600-131202200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:131195600-131206200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:131195600-131206800	Weak transcription	NHDF-Ad	bronchial
43	chr8:131196400-131201200	Strong transcription	HSMM	muscle
44	chr8:131196800-131206200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:131197000-131203800	Weak transcription	Brain Substantia Nigra	brain
46	chr8:131197200-131200800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr8:131197600-131200800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:131197600-131205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr8:131198200-131200800	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr8:131198400-131200800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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