Variant report

Variant	rs6754580
Chromosome Location	chr2:174010450-174010451
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	chr2:173998706..174001151-chr2:174010395..174012464,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6727361	1.00[AMR][1000 genomes]
rs6745229	1.00[AMR][1000 genomes]
rs6758025	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568360	0.91[YRI][hapmap];1.00[AMR][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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173996600-174012800	Weak transcription	Ovary	ovary
2	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
3	chr2:174001600-174012800	Weak transcription	Left Ventricle	heart
4	chr2:174001600-174013200	Weak transcription	HUVEC	blood vessel
5	chr2:174002000-174010800	Weak transcription	NHLF	lung
6	chr2:174002000-174012800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:174002200-174012800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:174002200-174012800	Weak transcription	Osteobl	bone
9	chr2:174002200-174014600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:174002200-174014600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:174002800-174013000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:174005600-174012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:174006600-174014400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:174007800-174021000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:174007800-174021000	Weak transcription	Fetal Intestine Small	intestine
16	chr2:174008000-174013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:174008600-174010800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:174008600-174020800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:174009400-174013200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:174009800-174011200	Enhancers	NHEK	skin
21	chr2:174010000-174010600	Enhancers	A549	lung
22	chr2:174010200-174011400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:174010400-174010800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:174010400-174011600	Enhancers	HMEC	breast
25	chr2:174010400-174013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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