Variant report

Variant	rs72877003
Chromosome Location	chr2:47309954-47309955
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	chr2:47295023..47298657-chr2:47300855..47310213,9	MCF-7	breast:
2	chr2:47308385..47311551-chr2:47313858..47316379,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17036223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57047194	1.00[AMR][1000 genomes]
rs57558077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57590657	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58098113	1.00[AMR][1000 genomes]
rs59510879	1.00[AMR][1000 genomes]
rs72875111	1.00[AMR][1000 genomes]
rs72875114	1.00[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv873998	chr2:47273732-47313624	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47300600-47310400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:47304200-47310800	Weak transcription	Primary B cells from cord blood	blood
3	chr2:47305200-47310000	Weak transcription	HMEC	breast
4	chr2:47305800-47310200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:47307000-47310200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:47307200-47310200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:47307200-47310800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:47307200-47311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:47307200-47312200	Weak transcription	K562	blood
10	chr2:47307200-47313000	Weak transcription	Esophagus	oesophagus
11	chr2:47307200-47315800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:47307200-47323000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:47307400-47310000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:47307400-47310200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:47307400-47310400	Weak transcription	Fetal Thymus	thymus
16	chr2:47307400-47312200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:47307400-47312400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:47307400-47312400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:47307400-47312400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:47307400-47312400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:47307400-47316200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:47307600-47310000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:47307600-47310000	Weak transcription	Fetal Muscle Leg	muscle
24	chr2:47307600-47310000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:47307600-47310200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:47307600-47310200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:47307600-47310200	Weak transcription	Fetal Lung	lung
28	chr2:47307600-47310200	Weak transcription	Right Ventricle	heart
29	chr2:47307600-47310400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:47307600-47310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:47307600-47310400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:47307600-47310400	Weak transcription	Brain Substantia Nigra	brain
33	chr2:47307600-47310800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:47307600-47310800	Weak transcription	Fetal Stomach	stomach
35	chr2:47307600-47310800	Weak transcription	Small Intestine	intestine
36	chr2:47307600-47310800	Weak transcription	Thymus	Thymus
37	chr2:47307600-47310800	Weak transcription	HUVEC	blood vessel
38	chr2:47307600-47310800	Weak transcription	NHLF	lung
39	chr2:47307600-47310800	Weak transcription	Osteobl	bone
40	chr2:47307600-47311000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:47307600-47311000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:47307600-47311000	Weak transcription	NH-A	brain
43	chr2:47307600-47312200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:47307600-47312400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:47307600-47312400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:47307600-47312400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:47307600-47312400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr2:47307600-47312600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:47307600-47312600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:47307600-47313200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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