Variant report

Variant	rs10184342
Chromosome Location	chr2:64280058-64280059
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64277797..64280331-chr2:64538007..64540114,2	MCF-7	breast:
2	chr2:64279851..64282234-chr2:64282895..64285369,2	K562	blood:
3	chr2:64276818..64280771-chr2:64542300..64544663,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10167126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10207972	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13392513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13412867	0.92[EUR][1000 genomes]
rs1440005	0.86[EUR][1000 genomes]
rs17028348	0.81[EUR][1000 genomes]
rs1975295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1975296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2422112	1.00[EUR][1000 genomes]
rs2901644	1.00[EUR][1000 genomes]
rs35121160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4507090	1.00[EUR][1000 genomes]
rs61389158	1.00[EUR][1000 genomes]
rs73935051	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
6	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64277400-64280600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:64277400-64281200	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:64277400-64281400	Weak transcription	Lung	lung
4	chr2:64277400-64281600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:64277400-64282600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:64277400-64291200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:64278400-64280200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:64278600-64282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr2:64278600-64282600	Enhancers	Primary T cells from cord blood	blood
10	chr2:64278600-64285400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:64278800-64282000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:64278800-64283400	Enhancers	Fetal Thymus	thymus
13	chr2:64279000-64280200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:64279000-64280600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:64279000-64281400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:64279000-64282000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr2:64279000-64282600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr2:64279000-64282800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:64279000-64282800	Enhancers	Thymus	Thymus
20	chr2:64279200-64280200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr2:64279200-64280200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:64279400-64280200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:64279400-64281000	Enhancers	GM12878-XiMat	blood
24	chr2:64279400-64282200	Enhancers	Dnd41	blood
25	chr2:64279600-64281200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:64279600-64285400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:64279800-64280200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:64279800-64280200	Flanking Active TSS	HUVEC	blood vessel
29	chr2:64279800-64280400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:64279800-64281200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:64279800-64281200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:64279800-64281400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr2:64279800-64281400	Weak transcription	HMEC	breast
34	chr2:64279800-64282000	Weak transcription	NHEK	skin
35	chr2:64279800-64282400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:64279800-64282600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:64279800-64282600	Weak transcription	Placenta	Placenta
38	chr2:64280000-64281000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:64280000-64281200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:64280000-64281200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:64280000-64283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:64280000-64283200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:64280000-64285400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:64280000-64290600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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