Variant report

Variant	rs2595396
Chromosome Location	chr2:187591858-187591859
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	chr2:187586395..187588666-chr2:187589274..187592197,2	K562	blood:
2	chr2:187584327..187587895-chr2:187590240..187593578,4	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2122178	1.00[AFR][1000 genomes]
rs2594705	1.00[AFR][1000 genomes]
rs2595374	0.86[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428069	chr2:187575692-187766209	ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187584600-187596000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:187590200-187592400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:187590400-187592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:187590600-187592000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:187590600-187592400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:187590600-187592400	Enhancers	Brain Germinal Matrix	brain
7	chr2:187590600-187594600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:187590800-187592000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:187590800-187592200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:187590800-187594000	Weak transcription	Fetal Brain Female	brain
11	chr2:187590800-187594400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:187590800-187597800	Weak transcription	Brain Substantia Nigra	brain
13	chr2:187591000-187592200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:187591000-187592200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:187591400-187592400	Enhancers	Brain Cingulate Gyrus	brain
16	chr2:187591400-187592400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:187591400-187592400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:187591600-187592000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr2:187591600-187592000	Enhancers	HSMMtube	muscle
20	chr2:187591600-187592000	Enhancers	NHDF-Ad	bronchial
21	chr2:187591600-187592200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:187591600-187592200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:187591600-187592200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:187591600-187592200	Enhancers	NH-A	brain
25	chr2:187591600-187592200	Enhancers	Osteobl	bone
26	chr2:187591600-187592400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:187591600-187594600	Enhancers	Brain Anterior Caudate	brain
28	chr2:187591800-187592200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr2:187591800-187592200	Enhancers	Fetal Brain Male	brain
30	chr2:187591800-187592400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:187591800-187592400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr2:187591800-187592400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:187591800-187592400	Enhancers	Brain Angular Gyrus	brain
34	chr2:187591800-187595400	Enhancers	Cortex derived primary cultured neurospheres	brain

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