Variant report

Variant	rs62276414
Chromosome Location	chr3:142117061-142117062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142116420..142117922-chr3:142120653..142123536,2	K562	blood:
2	chr3:142115156..142117920-chr3:142121507..142123536,2	K562	blood:
3	chr3:142085151..142088133-chr3:142116626..142119405,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11920625	1.00[AFR][1000 genomes]
rs11927681	1.00[AFR][1000 genomes]
rs62276410	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62276413	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62276422	1.00[AFR][1000 genomes]
rs62276439	1.00[AFR][1000 genomes]
rs62276447	1.00[AFR][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv522549	chr3:141812759-142164735	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv877556	chr3:141898980-142331360	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv523945	chr3:141933649-142219542	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1000083	chr3:141956718-142172666	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv877557	chr3:142090402-142150204	Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142076000-142136400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:142076800-142120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:142076800-142138200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:142083600-142158600	Weak transcription	NHEK	skin
5	chr3:142105000-142151800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:142105600-142123000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:142105800-142136600	Strong transcription	Fetal Intestine Large	intestine
8	chr3:142106800-142123000	Weak transcription	Fetal Brain Male	brain
9	chr3:142106800-142150800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:142109200-142141800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:142112200-142117600	Strong transcription	Fetal Muscle Trunk	muscle
12	chr3:142112200-142118000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:142112200-142118600	Strong transcription	Fetal Thymus	thymus
14	chr3:142112200-142119400	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr3:142112200-142133200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr3:142112200-142145000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:142112200-142145400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:142112200-142151600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:142112200-142152000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr3:142112200-142152200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:142112200-142154600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:142112400-142117200	Strong transcription	Colonic Mucosa	Colon
23	chr3:142112400-142117600	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr3:142112400-142117600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:142112400-142117600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr3:142112400-142117600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:142112400-142117600	Strong transcription	Fetal Muscle Leg	muscle
28	chr3:142112400-142117600	Strong transcription	Left Ventricle	heart
29	chr3:142112400-142117600	Strong transcription	Thymus	Thymus
30	chr3:142112400-142117800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:142112400-142118000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr3:142112400-142118000	Strong transcription	Dnd41	blood
33	chr3:142112400-142118200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:142112400-142118400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:142112400-142118400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr3:142112400-142118600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr3:142112400-142119200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:142112400-142119200	Strong transcription	Primary B cells from cord blood	blood
39	chr3:142112400-142120200	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr3:142112400-142120800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:142112400-142142400	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr3:142112400-142146600	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr3:142112600-142141600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr3:142112600-142150600	Strong transcription	Placenta	Placenta
45	chr3:142112800-142121200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:142112800-142142800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:142113000-142119600	Strong transcription	Primary B cells from peripheral blood	blood
48	chr3:142113000-142152200	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:142113200-142117800	Strong transcription	Primary hematopoietic stem cells	blood
50	chr3:142113200-142119000	Strong transcription	GM12878-XiMat	blood

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