Variant report

Variant	rs60519998
Chromosome Location	chr2:48610373-48610374
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:48601929..48604341-chr2:48608996..48611918,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10180074	1.00[EUR][1000 genomes]
rs13394813	1.00[EUR][1000 genomes]
rs28581888	1.00[EUR][1000 genomes]
rs56739727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57960206	1.00[EUR][1000 genomes]
rs58619347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59217824	1.00[EUR][1000 genomes]
rs61592994	0.89[EUR][1000 genomes]
rs6757714	1.00[EUR][1000 genomes]
rs72889649	1.00[EUR][1000 genomes]
rs72889654	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48598600-48612800	Weak transcription	Fetal Stomach	stomach
2	chr2:48602600-48612000	Weak transcription	Lung	lung
3	chr2:48602600-48612800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:48602600-48613400	Weak transcription	Left Ventricle	heart
5	chr2:48602800-48612800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:48603800-48614800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:48605200-48615000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:48605800-48615800	Weak transcription	Dnd41	blood
9	chr2:48607200-48611800	Weak transcription	Adipose Nuclei	Adipose
10	chr2:48607400-48611600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:48607800-48612800	Weak transcription	HUVEC	blood vessel
12	chr2:48608400-48610400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:48608400-48613200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:48608400-48618000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:48609600-48611000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr2:48610000-48610600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:48610200-48610400	Enhancers	Primary B cells from cord blood	blood
18	chr2:48610200-48610400	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:48610200-48610600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr2:48610200-48610600	Enhancers	Primary B cells from peripheral blood	blood
21	chr2:48610200-48610600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:48610200-48610600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:48610200-48610800	Enhancers	Primary hematopoietic stem cells	blood

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