Variant report

Variant	rs912548
Chromosome Location	chr6:45201200-45201201
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	chr6:45200553..45203015-chr6:45211837..45214861,3	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12526462	0.83[AFR][1000 genomes]
rs12526807	0.92[AFR][1000 genomes]
rs12529907	1.00[YRI][hapmap]
rs1284960	1.00[AMR][1000 genomes]
rs1284964	0.82[YRI][hapmap];0.92[AFR][1000 genomes]
rs1285002	1.00[AMR][1000 genomes]
rs1285018	1.00[AMR][1000 genomes]
rs1285024	1.00[AMR][1000 genomes]
rs16873373	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs1748233	0.87[YRI][hapmap]
rs1886344	1.00[AMR][1000 genomes]
rs2057552	0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs4330533	1.00[AMR][1000 genomes]
rs4521586	0.92[AFR][1000 genomes]
rs4521587	0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs4714840	1.00[AMR][1000 genomes]
rs55701611	1.00[AMR][1000 genomes]
rs55951053	1.00[AMR][1000 genomes]
rs56175185	0.92[AFR][1000 genomes]
rs58861889	1.00[AMR][1000 genomes]
rs59029804	1.00[AMR][1000 genomes]
rs60512318	1.00[AMR][1000 genomes]
rs6458435	0.82[YRI][hapmap];0.92[AFR][1000 genomes]
rs6909856	1.00[AMR][1000 genomes]
rs6917352	0.82[YRI][hapmap];0.95[AFR][1000 genomes]
rs6927456	1.00[AMR][1000 genomes]
rs6930090	1.00[AMR][1000 genomes]
rs6932926	0.82[YRI][hapmap];0.80[AFR][1000 genomes]
rs6935969	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6936475	0.87[YRI][hapmap];0.92[AFR][1000 genomes]
rs73735303	1.00[AMR][1000 genomes]
rs73735342	1.00[AMR][1000 genomes]
rs73735343	1.00[AMR][1000 genomes]
rs73735361	1.00[AMR][1000 genomes]
rs73735389	1.00[AMR][1000 genomes]
rs73735398	1.00[AMR][1000 genomes]
rs7747550	1.00[AMR][1000 genomes]
rs7757676	0.87[YRI][hapmap]
rs7771402	0.87[YRI][hapmap];1.00[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv492309	chr6:45020402-45233484	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1032906	chr6:45069368-45212863	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1028068	chr6:45169010-45246577	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2763550	chr6:45186825-45275593	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830652	chr6:45187467-45328983	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45196800-45207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:45199600-45201200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:45199600-45201400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr6:45199600-45201400	ZNF genes & repeats	Dnd41	blood
5	chr6:45199600-45201600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:45199800-45201200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr6:45199800-45201400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:45200000-45201200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:45200000-45201200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:45200000-45201200	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr6:45200200-45201600	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr6:45200400-45201200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:45200400-45201200	ZNF genes & repeats	Fetal Stomach	stomach
14	chr6:45200400-45201200	Strong transcription	Ovary	ovary
15	chr6:45200400-45201400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:45200400-45201400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:45200400-45201400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:45200600-45201200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:45200600-45201200	ZNF genes & repeats	Esophagus	oesophagus
20	chr6:45200600-45201200	ZNF genes & repeats	Lung	lung
21	chr6:45200800-45201200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:45200800-45201400	Strong transcription	Primary B cells from cord blood	blood
23	chr6:45201000-45201400	ZNF genes & repeats	Aorta	Aorta
24	chr6:45201000-45201400	ZNF genes & repeats	Fetal Heart	heart
25	chr6:45201000-45201600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:45201000-45203400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr6:45201200-45201800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:45201200-45203400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:45201200-45203800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:45201200-45204800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr6:45201200-45210000	Weak transcription	Ovary	ovary

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