Variant report

Variant	rs4897082
Chromosome Location	chr6:149437146-149437147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr6:149436902-149437301	HL-60	blood:	n/a	n/a
2	SPI1	chr6:149436877-149437205	GM12891	blood:	n/a	n/a
3	SPI1	chr6:149436794-149437193	GM12891	blood:	n/a	n/a
4	SPI1	chr6:149436703-149437513	GM12878	blood:	n/a	n/a
5	ZNF384	chr6:149436206-149437195	K562	blood:	n/a	n/a
6	SPI1	chr6:149436942-149437272	HL-60	blood:	n/a	n/a
7	SPI1	chr6:149436877-149437170	GM12878	blood:	n/a	n/a
8	SPI1	chr6:149436886-149437159	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149430916..149432459-chr6:149435133..149437289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219487	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11155625	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11756915	0.94[EUR][1000 genomes]
rs12191264	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12191441	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12196468	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12196841	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12197043	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12198786	0.94[EUR][1000 genomes]
rs12200486	0.93[EUR][1000 genomes]
rs12210293	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12210437	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12210478	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12212173	0.93[EUR][1000 genomes]
rs12212622	0.93[EUR][1000 genomes]
rs12216302	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2069314	0.94[EUR][1000 genomes]
rs28641142	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35030564	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35372633	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35426452	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3934770	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3935038	0.94[EUR][1000 genomes]
rs4243485	0.94[EUR][1000 genomes]
rs4243486	0.94[EUR][1000 genomes]
rs4283906	0.94[EUR][1000 genomes]
rs4355632	0.94[EUR][1000 genomes]
rs4385337	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4415179	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4495293	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4544932	0.94[EUR][1000 genomes]
rs4624897	0.94[EUR][1000 genomes]
rs4895778	0.81[ASN][1000 genomes]
rs4895779	0.94[EUR][1000 genomes]
rs4897081	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897083	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897087	0.94[EUR][1000 genomes]
rs5013008	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55794530	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55855829	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55953746	0.94[EUR][1000 genomes]
rs55991942	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56260426	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56328446	0.94[EUR][1000 genomes]
rs56396328	0.94[EUR][1000 genomes]
rs56883363	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56924759	0.94[EUR][1000 genomes]
rs57292049	0.94[EUR][1000 genomes]
rs57478974	0.94[EUR][1000 genomes]
rs57596511	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57937779	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58571272	0.94[EUR][1000 genomes]
rs61228112	0.94[EUR][1000 genomes]
rs61462811	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61660880	0.94[EUR][1000 genomes]
rs62425896	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6570941	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6570942	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6570943	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6909824	0.94[EUR][1000 genomes]
rs6934263	0.94[EUR][1000 genomes]
rs7741894	0.94[EUR][1000 genomes]
rs7743161	0.93[EUR][1000 genomes]
rs7749723	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7749728	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7767040	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9377192	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9386246	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9390658	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9688704	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9766171	0.94[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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149429200-149437200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:149430200-149437200	Weak transcription	Brain Substantia Nigra	brain
3	chr6:149430600-149437200	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:149433200-149443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:149433800-149444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:149435000-149439400	Weak transcription	Aorta	Aorta
7	chr6:149435400-149440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:149436200-149440000	Enhancers	K562	blood
9	chr6:149436400-149437600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:149436400-149437600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr6:149436400-149437800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:149436400-149437800	Enhancers	Dnd41	blood
13	chr6:149436400-149442600	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:149436600-149437200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr6:149436600-149437400	Enhancers	Primary T cells from cord blood	blood
16	chr6:149436600-149437400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:149436600-149437600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:149437000-149437200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:149437000-149437200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:149437000-149437400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:149437000-149437400	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr6:149437000-149437600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr6:149437000-149438000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr6:149437000-149438800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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