Variant report

Variant	rs4273173
Chromosome Location	chr2:213400982-213400983
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212742372..212744206-chr2:213400637..213402216,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16848519	1.00[AMR][1000 genomes]
rs16848567	1.00[AMR][1000 genomes]
rs16848719	1.00[AMR][1000 genomes]
rs6435703	1.00[AMR][1000 genomes]
rs6435710	1.00[AMR][1000 genomes]
rs6727289	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213398800-213401000	Bivalent/Poised TSS	Fetal Brain Female	brain
2	chr2:213398800-213402600	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr2:213399200-213403800	Active TSS	Fetal Heart	heart
4	chr2:213400000-213404400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
5	chr2:213400200-213401000	Active TSS	Brain Angular Gyrus	brain
6	chr2:213400200-213401200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:213400400-213401000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:213400400-213403200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
9	chr2:213400400-213404200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr2:213400400-213404600	Active TSS	Aorta	Aorta
11	chr2:213400600-213401000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
12	chr2:213400600-213401000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:213400600-213401000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
14	chr2:213400600-213401000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:213400600-213401200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr2:213400600-213401200	Active TSS	Right Ventricle	heart
17	chr2:213400600-213401600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr2:213400600-213402200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:213400600-213402400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
20	chr2:213400600-213403200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:213400600-213404400	Active TSS	Brain Substantia Nigra	brain
22	chr2:213400600-213404600	Active TSS	Right Atrium	heart
23	chr2:213400800-213401000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
24	chr2:213400800-213401000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
25	chr2:213400800-213401000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:213400800-213401000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr2:213400800-213401000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
28	chr2:213400800-213401000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
29	chr2:213400800-213401000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:213400800-213401000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:213400800-213401000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
32	chr2:213400800-213401000	Enhancers	Pancreas	Pancrea
33	chr2:213400800-213401000	Enhancers	Psoas Muscle	Psoas
34	chr2:213400800-213401000	Bivalent/Poised TSS	NH-A	brain
35	chr2:213400800-213401000	Bivalent/Poised TSS	NHEK	skin
36	chr2:213400800-213401200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:213400800-213401200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:213400800-213401200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
39	chr2:213400800-213401200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:213400800-213401200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:213400800-213401200	Bivalent Enhancer	Fetal Intestine Small	intestine
42	chr2:213400800-213401200	Bivalent Enhancer	Fetal Lung	lung
43	chr2:213400800-213401200	Bivalent Enhancer	Fetal Stomach	stomach
44	chr2:213400800-213401200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr2:213400800-213401200	Bivalent Enhancer	HSMMtube	muscle
46	chr2:213400800-213401400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:213400800-213401400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:213400800-213401400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr2:213400800-213401400	Bivalent/Poised TSS	Left Ventricle	heart
50	chr2:213400800-213401400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion

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