Variant report

Variant	rs17045866
Chromosome Location	chr2:54643106-54643107
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	chr2:54641076..54644026-chr2:54655042..54656989,2	MCF-7	breast:
2	chr2:54642015..54644746-chr2:54651022..54653356,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11892709	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17045857	0.88[EUR][1000 genomes]
rs17045859	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35821147	0.88[EUR][1000 genomes]
rs62140272	1.00[ASN][1000 genomes]
rs62140273	1.00[ASN][1000 genomes]
rs62140299	1.00[ASN][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	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54618600-54647200	Weak transcription	Left Ventricle	heart
2	chr2:54631200-54647000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:54632200-54643400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:54637600-54646600	Weak transcription	Brain Substantia Nigra	brain
5	chr2:54639000-54643200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:54639400-54644000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:54639400-54644400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:54639400-54657200	Weak transcription	Brain Anterior Caudate	brain
9	chr2:54641200-54647800	Enhancers	HUVEC	blood vessel
10	chr2:54641800-54647600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:54642000-54644400	Enhancers	Right Atrium	heart
12	chr2:54642200-54644200	Enhancers	Adipose Nuclei	Adipose
13	chr2:54642600-54645600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:54642800-54644200	Enhancers	Ovary	ovary
15	chr2:54643000-54643200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:54643000-54643200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:54643000-54643200	Bivalent Enhancer	HepG2	liver
18	chr2:54643000-54643200	Flanking Active TSS	NHEK	skin
19	chr2:54643000-54643400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:54643000-54643400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:54643000-54643600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:54643000-54643800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:54643000-54643800	Enhancers	Lung	lung
24	chr2:54643000-54644000	Enhancers	Esophagus	oesophagus
25	chr2:54643000-54644000	Enhancers	Fetal Lung	lung
26	chr2:54643000-54644000	Enhancers	Spleen	Spleen
27	chr2:54643000-54644000	Enhancers	K562	blood
28	chr2:54643000-54644200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:54643000-54644400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:54643000-54644400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:54643000-54644400	Enhancers	Right Ventricle	heart
32	chr2:54643000-54644800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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