Variant report

Variant	rs4852999
Chromosome Location	chr2:74219306-74219307
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:74218371..74220942-chr2:74324790..74327724,2	MCF-7	breast:
2	chr2:74179680..74183242-chr2:74217767..74219837,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10166873	0.90[AMR][1000 genomes]
rs10197238	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10201998	0.83[EUR][1000 genomes]
rs10207365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10207954	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10208256	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10496194	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11903339	0.83[EUR][1000 genomes]
rs12328448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2272165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28421442	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6546883	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6705628	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6714060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74213400-74220400	Weak transcription	HSMMtube	muscle
2	chr2:74215400-74220200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr2:74215400-74220200	Weak transcription	NHLF	lung
4	chr2:74215600-74224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:74215800-74220000	Weak transcription	HSMM	muscle
6	chr2:74215800-74220200	Weak transcription	HUVEC	blood vessel
7	chr2:74215800-74220600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:74215800-74224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:74215800-74225000	Weak transcription	Brain Anterior Caudate	brain
10	chr2:74215800-74225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:74215800-74225600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:74215800-74226800	Weak transcription	Colonic Mucosa	Colon
13	chr2:74215800-74226800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:74215800-74226800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:74215800-74227000	Weak transcription	Right Atrium	heart
16	chr2:74215800-74227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:74216000-74219400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:74216000-74220000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:74216000-74225400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:74216000-74227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:74216000-74227000	Weak transcription	Small Intestine	intestine
23	chr2:74216400-74220200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:74216400-74220200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:74216400-74220200	Weak transcription	Placenta	Placenta
26	chr2:74216400-74222800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:74216400-74226600	Weak transcription	Fetal Heart	heart
28	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:74216600-74220800	Strong transcription	Fetal Stomach	stomach
30	chr2:74216600-74221400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:74216600-74222800	Weak transcription	Stomach Mucosa	stomach
32	chr2:74216600-74223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:74216600-74224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:74216600-74225200	Weak transcription	Fetal Lung	lung
35	chr2:74216600-74226800	Weak transcription	Fetal Kidney	kidney
36	chr2:74216600-74227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:74216800-74219400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:74216800-74220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:74216800-74220200	Weak transcription	Spleen	Spleen
40	chr2:74216800-74220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:74216800-74220400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:74216800-74220400	Strong transcription	K562	blood
43	chr2:74216800-74220600	Weak transcription	Left Ventricle	heart
44	chr2:74216800-74220800	Weak transcription	Fetal Brain Male	brain
45	chr2:74216800-74221800	Genic enhancers	Monocytes-CD14+_RO01746	blood
46	chr2:74216800-74226600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:74216800-74226800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:74217000-74219400	Strong transcription	Duodenum Mucosa	Duodenum
49	chr2:74217000-74219600	Weak transcription	Gastric	stomach
50	chr2:74217000-74220200	Weak transcription	Adipose Nuclei	Adipose

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