Variant report

Variant	rs2287088
Chromosome Location	chr2:39712169-39712170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39692371..39695353-chr2:39710610..39713558,3	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13420425	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17531732	0.91[ASN][1000 genomes]
rs4670940	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58177306	0.91[ASN][1000 genomes]
rs59109595	0.91[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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39697200-39713200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:39697400-39715400	Weak transcription	Pancreas	Pancrea
3	chr2:39697400-39722000	Weak transcription	Fetal Stomach	stomach
4	chr2:39697400-39722000	Weak transcription	Right Ventricle	heart
5	chr2:39697400-39724200	Weak transcription	Gastric	stomach
6	chr2:39697600-39714600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:39697600-39714600	Weak transcription	Fetal Kidney	kidney
8	chr2:39702200-39726000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:39703400-39713200	Weak transcription	HSMMtube	muscle
10	chr2:39705400-39719400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:39705600-39713000	Weak transcription	Placenta	Placenta
12	chr2:39705600-39715200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:39705600-39719000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:39705600-39721600	Weak transcription	Psoas Muscle	Psoas
15	chr2:39705800-39713400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:39706000-39714400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:39706200-39715400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:39707400-39724200	Weak transcription	Fetal Brain Male	brain
19	chr2:39708200-39715400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:39709200-39713200	Weak transcription	NHDF-Ad	bronchial
21	chr2:39709200-39714400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:39709800-39714000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:39710000-39712600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:39710200-39715200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:39710400-39712200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:39710400-39712400	Enhancers	Fetal Heart	heart
27	chr2:39710600-39712600	Enhancers	Adipose Nuclei	Adipose
28	chr2:39710600-39713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:39710600-39716400	Enhancers	A549	lung
30	chr2:39710800-39712400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:39710800-39712600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr2:39710800-39717800	Weak transcription	Primary B cells from cord blood	blood
33	chr2:39711000-39712400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:39711000-39712800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:39711200-39712600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:39711200-39712600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:39711200-39712800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr2:39711200-39714400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:39711400-39712200	Enhancers	Brain Angular Gyrus	brain
40	chr2:39711400-39712200	Enhancers	Brain Hippocampus Middle	brain
41	chr2:39711400-39712400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:39711400-39712800	Enhancers	HUVEC	blood vessel
43	chr2:39711400-39714600	Weak transcription	NH-A	brain
44	chr2:39711400-39714600	Weak transcription	Osteobl	bone
45	chr2:39711400-39714800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr2:39711400-39717400	Weak transcription	Stomach Mucosa	stomach
47	chr2:39711400-39718800	Weak transcription	K562	blood
48	chr2:39711600-39712400	Enhancers	Colon Smooth Muscle	Colon
49	chr2:39711600-39712600	Weak transcription	HSMM	muscle
50	chr2:39711600-39713000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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