Variant report

Variant	rs58527922
Chromosome Location	chr2:149828844-149828845
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149828004..149830318-chr2:149837583..149839438,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28703820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34444151	1.00[AMR][1000 genomes]
rs57056083	1.00[AMR][1000 genomes]
rs57884131	1.00[AMR][1000 genomes]
rs58648788	1.00[AMR][1000 genomes]
rs6716666	1.00[AMR][1000 genomes]
rs7588725	1.00[AMR][1000 genomes]
rs7600923	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834407	chr2:149802974-149955205	Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149789400-149838600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:149790400-149854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:149791200-149829600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:149808600-149830200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:149809200-149840800	Weak transcription	Aorta	Aorta
6	chr2:149809800-149829800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:149812600-149835000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:149818600-149859400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:149820600-149830000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:149823200-149837800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr2:149823600-149831800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:149823600-149832200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr2:149823800-149829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:149823800-149829800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:149823800-149829800	Weak transcription	Brain Anterior Caudate	brain
16	chr2:149824200-149829800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:149824200-149830200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:149824400-149830800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:149824600-149829800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr2:149825000-149830400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:149825200-149829200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:149825200-149829400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:149825400-149830000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:149825600-149829000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:149825600-149829600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:149826000-149836000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:149826400-149837800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:149826600-149829600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:149826800-149832000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr2:149827200-149829000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr2:149827200-149829000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:149827200-149829000	Enhancers	GM12878-XiMat	blood
33	chr2:149827200-149829200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:149827200-149856000	Weak transcription	Fetal Stomach	stomach
35	chr2:149827400-149829400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr2:149827400-149829800	Weak transcription	Brain Angular Gyrus	brain
37	chr2:149827600-149829000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:149827600-149829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:149827600-149829600	Weak transcription	Fetal Brain Female	brain
40	chr2:149827600-149832000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:149827800-149831800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:149828000-149832400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:149828200-149832000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:149828200-149851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:149828400-149829000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:149828400-149831600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:149828800-149829400	Enhancers	Brain Hippocampus Middle	brain
48	chr2:149828800-149833800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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